Paroxysmal myoclonic dystonia with vocalisations: new entity or variant of preexisting syndromes?

PubMed Central

Feinberg, T E; Shapiro, A K; Shapiro, E

1986-01-01

From among 1377 patients with movement disorders, four patients had an unusual movement disorder characterised by paroxysmal bursts of involuntary, regular, repetitive, rhythmic, bilateral, coordinated, simultaneous, stereotypic myoclonus and vocalisations, often associated with tonic symptoms, interference with voluntary functioning, presence of hyperactivity, attention and learning disabilities, and resistance to treatment with haloperidol and other drugs. This symptom complex may represent a new disease entity, referred to here as paroxysmal myoclonic dystonia with vocalisations or a variant or combination of other movement disorders such as Gilles de la Tourette, myoclonic, or dystonic syndromes. PMID:3457101

Evidence that non-dreamers do dream: a REM sleep behaviour disorder model.

PubMed

Herlin, Bastien; Leu-Semenescu, Smaranda; Chaumereuil, Charlotte; Arnulf, Isabelle

2015-12-01

To determine whether non-dreamers do not produce dreams or do not recall them, subjects were identified with no dream recall with dreamlike behaviours during rapid eye movement sleep behaviour disorder, which is typically characterised by dream-enacting behaviours congruent with sleep mentation. All consecutive patients with idiopathic rapid eye movement sleep behaviour disorder or rapid eye movement sleep behaviour disorder associated with Parkinson's disease who underwent a video-polysomnography were interviewed regarding the presence or absence of dream recall, retrospectively or upon spontaneous arousals. The patients with no dream recall for at least 10 years, and never-ever recallers were compared with dream recallers with rapid eye movement sleep behaviour disorder regarding their clinical, cognitive and sleep features. Of the 289 patients with rapid eye movement sleep behaviour disorder, eight (2.8%) patients had no dream recall, including four (1.4%) patients who had never ever recalled dreams, and four patients who had no dream recall for 10-56 years. All non-recallers exhibited, daily or almost nightly, several complex, scenic and dreamlike behaviours and speeches, which were also observed during rapid eye movement sleep on video-polysomnography (arguing, fighting and speaking). They did not recall a dream following sudden awakenings from rapid eye movement sleep. These eight non-recallers with rapid eye movement sleep behaviour disorder did not differ in terms of cognition, clinical, treatment or sleep measures from the 17 dreamers with rapid eye movement sleep behaviour disorder matched for age, sex and disease. The scenic dreamlike behaviours reported and observed during rapid eye movement sleep in the rare non-recallers with rapid eye movement sleep behaviour disorder (even in the never-ever recallers) provide strong evidence that non-recallers produce dreams, but do not recall them. Rapid eye movement sleep behaviour disorder provides a new model to evaluate cognitive processing during dreaming and subsequent recall. © 2015 European Sleep Research Society.

Proceedings of the workshop on Cerebellum, Basal Ganglia and Cortical Connections Unmasked in Health and Disorder held in Brno, Czech Republic, October 17th, 2013.

PubMed

Bareš, Martin; Apps, Richard; Kikinis, Zora; Timmann, Dagmar; Oz, Gulin; Ashe, James J; Loft, Michaela; Koutsikou, Stella; Cerminara, Nadia; Bushara, Khalaf O; Kašpárek, Tomáš

2015-04-01

The proceedings of the workshop synthesize the experimental, preclinical, and clinical data suggesting that the cerebellum, basal ganglia (BG), and their connections play an important role in pathophysiology of various movement disorders (like Parkinson's disease and atypical parkinsonian syndromes) or neurodevelopmental disorders (like autism). The contributions from individual distinguished speakers cover the neuroanatomical research of complex networks, neuroimaging data showing that the cerebellum and BG are connected to a wide range of other central nervous system structures involved in movement control. Especially, the cerebellum plays a more complex role in how the brain functions than previously thought.

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes.

PubMed

Pearson, Toni S

2016-01-01

The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, and are likely under-recognized. A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus). Involuntary movements occur in the majority of patients with ataxia-telangiectasia and AOA1, and less frequently in patients with AOA2, Friedreich ataxia, and ataxia with vitamin E deficiency. Clinical presentations with an isolated hyperkinetic movement disorder in the absence of ataxia include dystonia or dystonia with myoclonus with predominant upper limb and cervical involvement (ataxia-telangiectasia, ataxia with vitamin E deficiency), and generalized chorea (ataxia with oculomotor apraxia type 1, ataxia-telangiectasia). An awareness of atypical presentations facilitates early and accurate diagnosis in these challenging cases. Recognition of involuntary movements is important not only for diagnosis, but also because of the potential for effective targeted symptomatic treatment.

Auditory rhythmic cueing in movement rehabilitation: findings and possible mechanisms

PubMed Central

Schaefer, Rebecca S.

2014-01-01

Moving to music is intuitive and spontaneous, and music is widely used to support movement, most commonly during exercise. Auditory cues are increasingly also used in the rehabilitation of disordered movement, by aligning actions to sounds such as a metronome or music. Here, the effect of rhythmic auditory cueing on movement is discussed and representative findings of cued movement rehabilitation are considered for several movement disorders, specifically post-stroke motor impairment, Parkinson's disease and Huntington's disease. There are multiple explanations for the efficacy of cued movement practice. Potentially relevant, non-mutually exclusive mechanisms include the acceleration of learning; qualitatively different motor learning owing to an auditory context; effects of increased temporal skills through rhythmic practices and motivational aspects of musical rhythm. Further considerations of rehabilitation paradigm efficacy focus on specific movement disorders, intervention methods and complexity of the auditory cues. Although clinical interventions using rhythmic auditory cueing do not show consistently positive results, it is argued that internal mechanisms of temporal prediction and tracking are crucial, and further research may inform rehabilitation practice to increase intervention efficacy. PMID:25385780

[One of the approaches to psychological-pedagogical help to children with severe movement disorders].

PubMed

Levchenko, I Iu; Simonova, T N

2012-01-01

The objective of the study was to work out an effective model of complex help to children with severe movement disorders. We examined 440 preschoolers with children cerebral palsy with severe movement disorders and 70 children with mild movement disorders. Functions of motor, emotional-personal and cognitive spheres and independence status with determination of 5 levels were studied in 47 patients. Three groups (from the group without concomitant (sensor, intellectual etc) disorders to the group with most severe disorders) were singled out. The authors characterize the model as an open integral system of methods, tools and ways providing the adaptation of children in response to external circumstances and changes in the state of patients. The creation of a correction-developing environment, consisting of 3 components: spatial-objective, technological (methodological) and social, is discussed. We present results of the development of children, evaluated by the following indices: general technique, sensory perceptive development, social adaptation, anxiety, cognitive activity, from 1997 to 2008. The 15 year follow-up demonstrated the stability of achieved positive results.

Multiple forms of rhythmic movements in an adolescent boy with rhythmic movement disorder.

PubMed

Su, Changjun; Miao, Jianting; Liu, Yu; Liu, Rui; Lei, Gesheng; Zhang, Wei; Yang, Ting; Li, Zhuyi

2009-12-01

Rhythmic movement disorder (RMD) refers to a group of stereotyped, repetitive movements involving large muscles, usually occurring prior to the onset of sleep and persisting into sleep. RMD more commonly exhibits only one or two forms of rhythmic movements (RM) in most reported cases. However, multiple RM forms of RMD occurring in a patient in the same night have rarely been reported. In this report, we present the unique case of a 15-year-old boy with RMD affected by multiple forms of RM in the same night, including four known forms (i.e., body rocking, head banging, leg rolling, and rhythmic feet movements) and two new kinds of RM (bilateral rhythmic arm rocking and rhythmic hands movements). Two video-polysomnographic recordings were performed in this patient before starting pharmacologic treatment and after long-term oral clonazepam treatment (1.0mg nightly for 3 months). The characteristics of RMD with multiple RM forms and the effectiveness of clonazepam on the RM episodes and polysomnographic findings observed in our patient are discussed. This report raises the fact that a patient with RMD may present with multiple complex rhythmic movements disrupting sleep, which emphasizes that better understanding of the clinical features of complex rhythmic movements during sleep in primary care settings is essential for early clinical diagnosis and optimal management.

Is it a tic or Tourette's? Clues for differentiating simple from more complex tic disorders.

PubMed

Evidente, V G

2000-10-01

Tics are characterized by sterotyped, purposeless, and irregularly repetitive movements and usually can be classified as chronic motor or vocal tic disorders, transient tic disorders, or Tourette's syndrome. The latter is a complex disorder associated with multiple tics and often accompanied by other conditions, such as ADHD and obsessive-compulsive disorder. Treatment can be difficult, and drug therapy should begin with agents least likely to cause problems for the patient. Education of the patient and family and support from the physician and other care providers are essential elements of effective management.

Just a scary dream? A brief review of sleep terrors, nightmares, and rapid eye movement sleep behavior disorder.

PubMed

Haupt, Mark; Sheldon, Stephen H; Loghmanee, Darius

2013-10-01

The clinical spectrum of sleep disorders in children is broad, ranging from primary snoring and obstructive sleep apnea (OSA) syndrome to complex sleep-related behaviors and movement disorders. Although snoring and OSA typically receive significant attention and discussion, other biologically based sleep disorders are as common, if not more common, in children. A general pediatrician is frequently presented with the complaint of sleep talking, sleep walking, or abnormal movements during sleep. Even more alarming is the presentation of the child suddenly and explosively screaming during sleep. Such complaints fall under the category of parasomnias. Exclusive to sleep and wake-to-sleep transitions, these parasomnias include arousals with abnormal motor, behavioral, autonomic, or sensory symptoms. Parasomnias can be noticeably dissimilar in clinical manifestations, but most share biologic characteristics. Three parasomnias associated with loud vocalizations associated with sleep that can present to general practitioners include sleep terrors, nightmares, and rapid eye movement sleep behavior disorder (RBD). Although usually benign, these sleep disorders can be disruptive and even potentially dangerous to the patient and can often be threatening to quality of life. In this article, we describe the clinical features of some of these disorders and how to differentiate between their alarming presentations. Copyright 2013, SLACK Incorporated.

Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.

PubMed

Manzoor, Humera; Brüggemann, Norbert; Hussain, Hafiz Muhammad Jafar; Bäumer, Tobias; Hinrichs, Frauke; Wajid, Muhammad; Münchau, Alexander; Naz, Sadaf; Lohmann, Katja

2018-06-01

Neurological disorders comprise a large group of clinically and genetically heterogeneous disorders, many of which have a genetic cause. In addition to a detailed neurological examination, exome sequencing is being increasingly used as a complementary diagnostic tool to identify the underlying genetic cause in patients with unclear, supposedly genetically determined disorders. To identify the genetic cause of a complex movement disorder in five consanguineous Pakistani families. We included five consanguineous Pakistani families with complex recessively inherited movement disorders. Clinical investigation including videotaping was carried out in a total of 59 family members (4-21 per family) and MRI in six patients. Exome sequencing was performed in 4-5 family members per pedigree to explore the underlying genetic cause. Patients presented a wide spectrum of neurological symptoms including ataxia and/or dystonia. We identified three novel homozygous, segregating variants in ATCAY (p.Pro200Profs*20), MCOLN1 (p.Ile184Thr), and SACS (p.Asn3040Lysfs*4) in three of the families. Thus, we were able to identify the likely cause of the disease in a considerable number of families (60%) with the relatively simple and nowadays widely available method of exome sequencing. Of note, close collaboration of neurologists and geneticists was instrumental for proper data interpretation. We expand the phenotypic, genotypic, and ethnical spectrum of mutations in these genes. Our findings alert neurologists that rare genetic causes should be considered in complex phenotypes regardless of ethnicity. Copyright © 2018 Elsevier Ltd. All rights reserved.

How young adults with autism spectrum disorder watch and interpret pragmatically complex scenes.

PubMed

Lönnqvist, Linda; Loukusa, Soile; Hurtig, Tuula; Mäkinen, Leena; Siipo, Antti; Väyrynen, Eero; Palo, Pertti; Laukka, Seppo; Mämmelä, Laura; Mattila, Marja-Leena; Ebeling, Hanna

2017-11-01

The aim of the current study was to investigate subtle characteristics of social perception and interpretation in high-functioning individuals with autism spectrum disorders (ASDs), and to study the relation between watching and interpreting. As a novelty, we used an approach that combined moment-by-moment eye tracking and verbal assessment. Sixteen young adults with ASD and 16 neurotypical control participants watched a video depicting a complex communication situation while their eye movements were tracked. The participants also completed a verbal task with questions related to the pragmatic content of the video. We compared verbal task scores and eye movements between groups, and assessed correlations between task performance and eye movements. Individuals with ASD had more difficulty than the controls in interpreting the video, and during two short moments there were significant group differences in eye movements. Additionally, we found significant correlations between verbal task scores and moment-level eye movement in the ASD group, but not among the controls. We concluded that participants with ASD had slight difficulties in understanding the pragmatic content of the video stimulus and attending to social cues, and that the connection between pragmatic understanding and eye movements was more pronounced for participants with ASD than for neurotypical participants.

Evidence of embodied social competence during conversation in high functioning children with autism spectrum disorder

PubMed Central

Fitzpatrick, Paula; Roulier, Stephanie; Duncan, Amie; Richardson, Michael J.; Schmidt, R. C.

2018-01-01

Even high functioning children with Autism Spectrum Disorder (ASD) exhibit impairments that affect their ability to carry out and maintain effective social interactions in multiple contexts. One aspect of subtle nonverbal communication that might play a role in this impairment is the whole-body motor coordination that naturally arises between people during conversation. The current study aimed to measure the time-dependent, coordinated whole-body movements between children with ASD and a clinician during a conversational exchange using tools of nonlinear dynamics. Given the influence that subtle interpersonal coordination has on social interaction feelings, we expected there to be important associations between the dynamic motor movement measures introduced in the current study and the measures used traditionally to categorize ASD impairment (ADOS-2, joint attention and theory of mind). The study found that children with ASD coordinated their bodily movements with a clinician, that these movements were complex and that the complexity of the children’s movements matched that of the clinician’s movements. Importantly, the degree of this bodily coordination was related to higher social cognitive ability. This suggests children with ASD are embodying some degree of social competence during conversations. This study demonstrates the importance of further investigating the subtle but important bodily movement coordination that occurs during social interaction in children with ASD. PMID:29505608

The complexities in conceptualizing neurodiversity. Comment on ;Implications of the idea of neurodiversity for understanding the origins of developmental disorders; by Nobuo Masataka

NASA Astrophysics Data System (ADS)

Harris, Yvette R.

2017-03-01

The Masataka review article [1] provides an in-depth analysis of neurodiversity with specific attention given to children and adults on the Autism Spectrum Disorder continuum (ASD). In this review, Masataka chronicles the history of the neurodiversity movement, with a specific focus on the rationale for the movement, discusses the relevant research examining the perceptual, social and cognitive differences between neurotypical and neuroatypical children and adults and concludes the review with implications and suggestions for interventions and social policy.

Absent movement-related cortical potentials in children with primary motor stereotypies

PubMed Central

Houdayer, Elise; Walthall, Jessica; Belluscio, Beth A.; Vorbach, Sherry; Singer, Harvey S.; Hallett, Mark

2013-01-01

Background The underlying pathophysiologic mechanism for complex motor stereotypies in children is unknown with hypotheses ranging from an arousal to a motor control disorder. Movement-related cortical potentials (MRCPs), representing the activation of cerebral areas involved in the generation of movements, precede and accompany self-initiated voluntary movements. The goal of this study was to compare cerebral activity associated with stereotypies to that seen with voluntary movements in children with primary complex motor stereotypies. Methods Electroencephalographic (EEG) activity synchronized with video recording was recorded in 10 children diagnosed with primary motor stereotypies and 7 controls. EEG activity related to stereotypies and self-paced arm movements were analyzed for presence or absence of early or late MRCP, a steep negativity beginning about one second before the onset of a voluntary movement. Results Early MRCPs preceded self-paced arm movements in 8 out of 10 children with motor stereotypies and in 6 out of 7 controls. Observed MRCPs did not differ between groups. No MRCP was identified before the appearance of a complex motor stereotypy. Conclusions Unlike voluntary movements, stereotypies are not preceded by MRCPs. This indicates that premotor areas are likely not involved in the preparation of these complex movements and suggests that stereotypies are initiated by mechanisms different from voluntary movements. Further studies are required to determine the site of the motor control abnormality within cortico-striatal-thalamo-cortical pathways and to identify whether similar findings would be found in children with secondary stereotypies. PMID:24259275

A new view of “dream enactment” in REM sleep behavior disorder

PubMed Central

Blumberg, Mark S.; Plumeau, Alan M.

2015-01-01

SUMMARY REM sleep behavior disorder (RBD) is a disorder in which patients exhibit increased muscle tone and exaggerated myoclonic twitching during REM sleep. In addition, violent movements of the limbs, and complex behaviors that can sometimes appear to involve the enactment of dreams, are associated with RBD. These behaviors are widely thought to result from a dysfunction involving atonia-producing neural circuitry in the brainstem, thereby unmasking cortically generated dreams. Here we scrutinize the assumptions that led to this interpretation of RBD. In particular, we challenge the assumption that motor cortex produces twitches during REM sleep, thus calling into question the related assumption that motor cortex is primarily responsible for all of the pathological movements of RBD. Moreover, motor cortex is not even necessary to produce complex behavior; for example, stimulation of some brainstem structures can produce defensive and aggressive behaviors in rats and monkeys that are striking similar to those reported in human patients with RBD. Accordingly, we suggest an interpretation of RBD that focuses increased attention on the brainstem as a source of the pathological movements and that considers sensory feedback from moving limbs as an important influence on the content of dream mentation. PMID:26802823

Perspectives on the rapid eye movement sleep switch in rapid eye movement sleep behavior disorder.

PubMed

Ramaligam, Vetrivelan; Chen, Michael C; Saper, Clifford B; Lu, Jun

2013-08-01

Rapid eye movement (REM) sleep in mammals is associated with wakelike cortical and hippocampal activation and concurrent postural muscle atonia. Research during the past 5 decades has revealed the details of the neural circuitry regulating REM sleep and muscle atonia during this state. REM-active glutamatergic neurons in the sublaterodorsal nucleus (SLD) of the dorsal pons are critical for generation for REM sleep atonia. Descending projections from SLD glutamatergic neurons activate inhibitory premotor neurons in the ventromedial medulla (VMM) and in the spinal cord to antagonize the glutamatergic supraspinal inputs on the motor neurons during REM sleep. REM sleep behavior disorder (RBD) consists of simple behaviors (i.e., twitching, jerking) and complex behaviors (i.e., defensive behavior, talking). Animal research has lead to the hypothesis that complex behaviors in RBD are due to SLD pathology, while simple behaviors of RBD may be due to less severe SLD pathology or dysfunction of the VMM, ventral pons, or spinal cord. Copyright © 2013 Elsevier B.V. All rights reserved.

The spectrum of REM sleep-related episodes in children with type 1 narcolepsy.

PubMed

Antelmi, Elena; Pizza, Fabio; Vandi, Stefano; Neccia, Giulia; Ferri, Raffaele; Bruni, Oliviero; Filardi, Marco; Cantalupo, Gaetano; Liguori, Rocco; Plazzi, Giuseppe

2017-06-01

Type 1 narcolepsy is a central hypersomnia due to the loss of hypocretin-producing neurons and characterized by cataplexy, excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. In children, close to the disease onset, type 1 narcolepsy has peculiar clinical features with severe cataplexy and a complex admixture of movement disorders occurring while awake. Motor dyscontrol during sleep has never been systematically investigated. Suspecting that abnormal motor control might affect also sleep, we systematically analysed motor events recorded by means of video polysomnography in 40 children with type 1 narcolepsy (20 females; mean age 11.8 ± 2.6 years) and compared these data with those recorded in 22 age- and sex-matched healthy controls. Motor events were classified as elementary movements, if brief and non-purposeful and complex behaviours, if simulating purposeful behaviours. Complex behaviours occurring during REM sleep were further classified as 'classically-defined' and 'pantomime-like' REM sleep behaviour disorder episodes, based on their duration and on their pattern (i.e. brief and vivid-energetic in the first case, longer and with subcontinuous gesturing mimicking daily life activity in the second case). Elementary movements emerging either from non-REM or REM sleep were present in both groups, even if those emerging from REM sleep were more numerous in the group of patients. Conversely, complex behaviours could be detected only in children with type 1 narcolepsy and were observed in 13 patients, with six having 'classically-defined' REM sleep behaviour disorder episodes and seven having 'pantomime-like' REM sleep behaviour disorder episodes. Complex behaviours during REM sleep tended to recur in a stereotyped fashion for several times during the night, up to be almost continuous. Patients displaying a more severe motor dyscontrol during REM sleep had also more severe motor disorder during daytime (i.e. status cataplecticus) and more complaints of disrupted nocturnal sleep and of excessive daytime sleepiness. The neurophysiological hallmark of this severe motor dyscontrol during REM sleep was a decreased atonia index. The present study reports for the first time the occurrence of a severe and peculiar motor disorder during REM sleep in paediatric type 1 narcolepsy and confirms the presence of a severe motor dyscontrol in these patients, emerging not only from wakefulness (i.e. status cataplecticus), but also from sleep (i.e. complex behaviours during REM sleep). This is probably related to the acute imbalance of the hypocretinergic system, which physiologically acts by promoting movements during wakefulness and suppressing them during sleep. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Greater disruption to control of voluntary saccades in autistic disorder than Asperger's disorder: evidence for greater cerebellar involvement in autism?

PubMed

Stanley-Cary, Chloe; Rinehart, Nicole; Tonge, Bruce; White, Owen; Fielding, Joanne

2011-03-01

It remains unclear whether autism and Asperger's disorder (AD) exist on a symptom continuum or are separate disorders with discrete neurobiological underpinnings. In addition to impairments in communication and social cognition, motor deficits constitute a significant clinical feature in both disorders. It has been suggested that motor deficits and in particular the integrity of cerebellar modulation of movement may differentiate these disorders. We used a simple volitional saccade task to comprehensively profile the integrity of voluntary ocular motor behaviour in individuals with high functioning autism (HFA) or AD, and included measures sensitive to cerebellar dysfunction. We tested three groups of age-matched young males with normal intelligence (full scale, verbal, and performance IQ estimates >70) aged between 11 and 19 years; nine with AD, eight with HFA, and ten normally developing males as the comparison group. Overall, the metrics and dynamics of the voluntary saccades produced in this task were preserved in the AD group. In contrast, the HFA group demonstrated relatively preserved mean measures of ocular motricity with cerebellar-like deficits demonstrated in increased variability on measures of response time, final eye position, and movement dynamics. These deficits were considered to be consistent with reduced cerebellar online adaptation of movement. The results support the notion that the integrity of cerebellar modulation of movement may be different in AD and HFA, suggesting potentially differential neurobiological substrates may underpin these complex disorders.

The therapeutic potential of cannabinoids for movement disorders.

PubMed

Kluger, Benzi; Triolo, Piera; Jones, Wallace; Jankovic, Joseph

2015-03-01

There is growing interest in the therapeutic potential of marijuana (cannabis) and cannabinoid-based chemicals within the medical community and, particularly, for neurological conditions. This interest is driven both by changes in the legal status of cannabis in many areas and increasing research into the roles of endocannabinoids within the central nervous system and their potential as symptomatic and/or neuroprotective therapies. We review basic science as well as preclinical and clinical studies on the therapeutic potential of cannabinoids specifically as it relates to movement disorders. The pharmacology of cannabis is complex, with over 60 neuroactive chemicals identified to date. The endocannabinoid system modulates neurotransmission involved in motor function, particularly within the basal ganglia. Preclinical research in animal models of several movement disorders have shown variable evidence for symptomatic benefits, but more consistently suggest potential neuroprotective effects in several animal models of Parkinson's (PD) and Huntington's disease (HD). Clinical observations and clinical trials of cannabinoid-based therapies suggests a possible benefit of cannabinoids for tics and probably no benefit for tremor in multiple sclerosis or dyskinesias or motor symptoms in PD. Data are insufficient to draw conclusions regarding HD, dystonia, or ataxia and nonexistent for myoclonus or RLS. Despite the widespread publicity about the medical benefits of cannabinoids, further preclinical and clinical research is needed to better characterize the pharmacological, physiological, and therapeutic effects of this class of drugs in movement disorders. © 2015 International Parkinson and Movement Disorder Society.

Smooth pursuit eye movement (SPEM) in patients with multiple complex developmental disorder (MCDD), a subtype of the pervasive developmental disorder.

PubMed

Lahuis, Bertine E; Van Engeland, Herman; Cahn, Wiepke; Caspers, Esther; Van der Geest, Jos N; Van der Gaag, Rutger Jan; Kemner, Chantal

2009-01-01

Multiple complex developmental disorder (MCDD) is a well-defined and validated behavioural subtype of pervasive developmental disorder-not otherwise specified (PDD-NOS) and is thought to be associated with a higher risk of developing a schizophrenic spectrum disorder. The question was addressed whether patients with MCDD show the same psychophysiological abnormalities as seen in patients with schizophrenia. Smooth pursuit eye movement (pursuit gain and saccadic parameters) was measured in children with either MCDD (n=18) or autism (n=18), and in age- and IQ-matched controls (n=36), as well as in a group of adult patients with schizophrenia (n=14) and a group of adult controls (n=17). We found the expected effect of lower velocity gain and increased number of saccades in schizophrenic patients. Children with MCDD also showed a lower velocity gain compared to controls children. In contrast, velocity gain was similar in autistic subjects and controls. No differences for velocity gain were found in a direct comparison between MCDD and autism. Saccadic parameters were not significantly different from controls in either MCDD or autistic subjects. Children with MCDD, like schizophrenic adults, show a reduced velocity gain, which could indicate that schizophrenia spectrum disorders and MCDD share (at least to some degree) a common neurobiological background.

Interceptive Skills in Children Aged 9-11 Years, Diagnosed with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Whyatt, Caroline; Craig, Cathy M.

2013-01-01

Growing evidence suggests that significant motor problems are associated with a diagnosis of Autism Spectrum Disorders (ASD), particularly in catching tasks. Catching is a complex, dynamic skill that involves the ability to synchronise one's own movement to that of a moving target. To successfully complete the task, the participant must pick up…

Automated Tracking and Quantification of Autistic Behavioral Symptoms Using Microsoft Kinect.

PubMed

Kang, Joon Young; Kim, Ryunhyung; Kim, Hyunsun; Kang, Yeonjune; Hahn, Susan; Fu, Zhengrui; Khalid, Mamoon I; Schenck, Enja; Thesen, Thomas

2016-01-01

The prevalence of autism spectrum disorder (ASD) has risen significantly in the last ten years, and today, roughly 1 in 68 children has been diagnosed. One hallmark set of symptoms in this disorder are stereotypical motor movements. These repetitive movements may include spinning, body-rocking, or hand-flapping, amongst others. Despite the growing number of individuals affected by autism, an effective, accurate method of automatically quantifying such movements remains unavailable. This has negative implications for assessing the outcome of ASD intervention and drug studies. Here we present a novel approach to detecting autistic symptoms using the Microsoft Kinect v.2 to objectively and automatically quantify autistic body movements. The Kinect camera was used to film 12 actors performing three separate stereotypical motor movements each. Visual Gesture Builder (VGB) was implemented to analyze the skeletal structures in these recordings using a machine learning approach. In addition, movement detection was hard-coded in Matlab. Manual grading was used to confirm the validity and reliability of VGB and Matlab analysis. We found that both methods were able to detect autistic body movements with high probability. The machine learning approach yielded highest detection rates, supporting its use in automatically quantifying complex autistic behaviors with multi-dimensional input.

Intense imagery movements: a common and distinct paediatric subgroup of motor stereotypies.

PubMed

Robinson, Sally; Woods, Martin; Cardona, Francesco; Baglioni, Valentina; Hedderly, Tammy

2014-12-01

The aim of this article is to describe a subgroup of children who presented with stereotyped movements in the context of episodes of intense imagery. This is of relevance to current discussions regarding the clinical usefulness of diagnosing motor stereotypies during development. The sample consisted of 10 children (nine males, one female; mean age 8y 6mo [SD 2y 5mo], range 6-15y). Referrals were from acute paediatricians, neurologists, and tertiary epilepsy services. Children were assessed by multidisciplinary teams with expertise in paediatric movement disorders. Stereotypies presented as paroxysmal complex movements involving upper and lower limbs. Imagery themes typically included computer games (60%), cartoons/films (40%), and fantasy scenes (30%). Comorbid developmental difficulties were reported for 80% of children. Brain imaging and electrophysiological investigations had been conducted for 50% of the children before referral to the clinic. The descriptive term 'intense imagery movements' (IIM) was applied if (after interview) the children reported engaging in acts of imagery while performing stereotyped movements. We believe these children may form a common and discrete stereotypy subgroup, with the concept of IIM being clinically useful to ensure the accurate diagnosis and clinical management of this paediatric movement disorder. © 2014 Mac Keith Press.

Potential of eye movement desensitization and reprocessing therapy in the treatment of post-traumatic stress disorder.

PubMed

McGuire, Tracy M; Lee, Christopher W; Drummond, Peter D

2014-01-01

Post-traumatic stress disorder (PTSD) continues to attract both empirical and clinical interest due to its complex symptom profile and the underlying processes involved. Recently, research attention has been focused on the types of memory processes involved in PTSD and hypothesized neurobiological processes. Complicating this exploration, and the treatment of PTSD, are underlying comorbid disorders, such as depression, anxiety, and substance use disorders. Treatment of PTSD has undergone further reviews with the introduction of eye movement desensitization and reprocessing (EMDR). EMDR has been empirically demonstrated to be as efficacious as other specific PTSD treatments, such as trauma-focused cognitive behavioral therapy. There is emerging evidence that there are different processes underlying these two types of trauma treatment and some evidence that EMDR might have an efficiency advantage. Current research and understanding regarding the processes of EMDR and the future direction of EMDR is presented.

Insights into Chronic Functional Movement Disorders: The Value of Qualitative Psychiatric Interviews.

PubMed

Epstein, Steven A; Maurer, Carine W; LaFaver, Kathrin; Ameli, Rezvan; Sinclair, Stephen; Hallett, Mark

Patients with functional movement disorders (FMDs) are commonly seen by neurologists and psychosomatic medicine psychiatrists. Research literature provides scant information about the subjective experiences of individuals with this often chronic problem. To enhance our understanding of psychologic aspects of FMDs by conducting qualitative interviews of research subjects. In total, 36 patients with FMDs were recruited from the Human Motor Control clinic at the National Institutes of Health. Each subject participated in a qualitative psychiatric interview and a structured diagnostic psychiatric interview. Of our 36 subjects, 28 had current or lifetime psychiatric disorders in addition to conversion disorder and 22 had current disorders. Qualitative interviews provided rich information on patients' understanding of their illnesses and impaired cognitive processing of emotions. Our study supports the addition of open-ended qualitative interviews to delineate emotional dynamics and conceptual frameworks among such patients. Exploratory interviews generate enhanced understanding of such complex patients, above and beyond that gained by assessing DSM diagnostic comorbidities. Copyright © 2016 The Academy of Psychosomatic Medicine. All rights reserved.

Methamphetamine-induced dopaminergic toxicity prevented owing to the neuroprotective effects of salicylic acid.

PubMed

Thrash-Williams, Bessy; Karuppagounder, Senthilkumar S; Bhattacharya, Dwipayan; Ahuja, Manuj; Suppiramaniam, Vishnu; Dhanasekaran, Muralikrishnan

2016-06-01

Methamphetamine (Schedule-II drug, U.S. Drug Enforcement Administration) is one of the most abused illicit drug following cocaine, marijuana, and heroin in the USA. There are numerous health impairments and substantial economic burden caused by methamphetamine abuse. Salicylic acid, potent anti-inflammatory drug and a known neuroprotectant has shown to protect against toxicity-induced by other dopaminergic neurotoxins. Hence, in this study we investigated the neuroprotective effects of salicylic acid against methamphetamine-induced toxicity in mice. The current study investigated the effects of sodium salicylate and/or methamphetamine on oxidative stress, monoamine oxidase, mitochondrial complex I & IV activities using spectrophotometric and fluorimetric methods. Behavioral analysis evaluated the effect on movement disorders-induced by methamphetamine. Monoaminergic neurotransmitter levels were evaluated using high pressure liquid chromatography-electrochemical detection. Methamphetamine caused significant generation of reactive oxygen species and decreased complex-I activity leading to dopamine depletion. Striatal dopamine depletion led to significant behavioral changes associated with movement disorders. Sodium salicylate (50 & 100mg/kg) significantly scavenged reactive oxygen species, blocked mitochondrial dysfunction and exhibited neuroprotection against methamphetamine-induced neurotoxicity. In addition, sodium salicylate significantly blocked methamphetamine-induced behavioral changes related to movement abnormalities. One of the leading causative theories in nigral degeneration associated with movement disorders such as Parkinson's disease is exposure to stimulants, drugs of abuse, insecticide and pesticides. These neurotoxic substances can induce dopaminergic neuronal insult by oxidative stress, apoptosis, mitochondrial dysfunction and inflammation. Salicylic acid due to its antioxidant and anti-inflammatory effects could provide neuroprotection against the stimulants or drugs of abuse. Copyright © 2016 Elsevier Inc. All rights reserved.

Post-Thalamic Stroke Movement Disorders: A Systematic Review.

PubMed

Gupta, Navnika; Pandey, Sanjay

2018-06-05

After a stroke, movement disorders are rare manifestations mainly affecting the deep structures of the brain like the basal ganglia (44%) and thalamus (37%), although there have been case studies of movement disorders in strokes affecting the cerebral cortex also. This review aims to delineate the various movement disorders seen in association with thalamic strokes and tries to identify the location of the nuclei affected in each of the described movement disorders. Cases were identified through a search of PubMed database using different search terms related to post-thalamic stroke movement disorders and a secondary search of references of identified articles. We reviewed 2,520 research articles and only 86 papers met the inclusion criteria. Cases were included if they met criteria for post-thalamic stroke movement disorders. Case-cohort studies were also reviewed and will be discussed further. Key Messages: The most common post-stroke abnormal movement disorder reported in our review was dystonia followed by hemiataxia. There was a higher association between ischaemic stroke and movement disorder. Acute onset movement disorders were more common than delayed. The posterolateral thalamus was most commonly involved in post-thalamic stroke movement disorders. © 2018 S. Karger AG, Basel.

Low dimensional temporal organization of spontaneous eye blinks in adults with developmental disabilities and stereotyped movement disorder.

PubMed

Lee, Mei-Hua; Bodfish, James W; Lewis, Mark H; Newell, Karl M

2010-01-01

This study investigated the mean rate and time-dependent sequential organization of spontaneous eye blinks in adults with intellectual and developmental disability (IDD) and individuals from this group who were additionally categorized with stereotypic movement disorder (IDD+SMD). The mean blink rate was lower in the IDD+SMD group than the IDD group and both of these groups had a lower blink rate than a contrast group of healthy adults. In the IDD group the n to n+1 sequential organization over time of the eye-blink durations showed a stronger compensatory organization than the contrast group suggesting decreased complexity/dimensionality of eye-blink behavior. Very low blink rate (and thus insufficient time series data) precluded analysis of time-dependent sequential properties in the IDD+SMD group. These findings support the hypothesis that both IDD and SMD are associated with a reduction in the dimension and adaptability of movement behavior and that this may serve as a risk factor for the expression of abnormal movements.

Aquatic rehabilitation for the treatment of neurological disorders.

PubMed

Morris, D M

1994-01-01

Patients with neurological disorders present therapists with complex challenges for treatment, including weakness, hypertonicity, voluntary movement deficit, limited range of motion, sensory loss, incoordination, and postural instability. The presence of one or more of these impairments negatively influences these patients by contributing to problems in walking, transferring, and reaching. Aquatic rehabilitation offers a unique, versatile approach to the treatment of these disabilities. This article examines the problems encountered by patients with neurological disorders, general principles guiding neurotreatment, and aquatic neurorehabilitation approaches.

Ictal SPECT in patients with rapid eye movement sleep behaviour disorder.

PubMed

Mayer, Geert; Bitterlich, Marion; Kuwert, Torsten; Ritt, Philipp; Stefan, Hermann

2015-05-01

Rapid eye movement sleep behaviour disorder is a rapid eye movement parasomnia clinically characterized by acting out dreams due to disinhibition of muscle tone in rapid eye movement sleep. Up to 80-90% of the patients with rapid eye movement sleep behaviour disorder develop neurodegenerative disorders within 10-15 years after symptom onset. The disorder is reported in 45-60% of all narcoleptic patients. Whether rapid eye movement sleep behaviour disorder is also a predictor for neurodegeneration in narcolepsy is not known. Although the pathophysiology causing the disinhibition of muscle tone in rapid eye movement sleep behaviour disorder has been studied extensively in animals, little is known about the mechanisms in humans. Most of the human data are from imaging or post-mortem studies. Recent studies show altered functional connectivity between substantia nigra and striatum in patients with rapid eye movement sleep behaviour disorder. We were interested to study which regions are activated in rapid eye movement sleep behaviour disorder during actual episodes by performing ictal single photon emission tomography. We studied one patient with idiopathic rapid eye movement sleep behaviour disorder, one with Parkinson's disease and rapid eye movement sleep behaviour disorder, and two patients with narcolepsy and rapid eye movement sleep behaviour disorder. All patients underwent extended video polysomnography. The tracer was injected after at least 10 s of consecutive rapid eye movement sleep and 10 s of disinhibited muscle tone accompanied by movements registered by an experienced sleep technician. Ictal single photon emission tomography displayed the same activation in the bilateral premotor areas, the interhemispheric cleft, the periaqueductal area, the dorsal and ventral pons and the anterior lobe of the cerebellum in all patients. Our study shows that in patients with Parkinson's disease and rapid eye movement sleep behaviour disorder-in contrast to wakefulness-the neural activity generating movement during episodes of rapid eye movement sleep behaviour disorder bypasses the basal ganglia, a mechanism that is shared by patients with idiopathic rapid eye movement sleep behaviour disorder and narcolepsy patients with rapid eye movement sleep behaviour disorder. © The Author (2015). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

The Therapeutic Potential of Cannabinoids for Movement Disorders

PubMed Central

Kluger, Benzi; Triolo, Piera; Jones, Wallace; Jankovic, Joseph

2014-01-01

Background There is growing interest in the therapeutic potential of marijuana (cannabis) and cannabinoid-based chemicals within the medical community and particularly for neurologic conditions. This interest is driven both by changes in the legal status of cannabis in many areas and increasing research into the roles of endocannabinoids within the central nervous system and their potential as symptomatic and/or neuroprotective therapies. We review basic science, preclinical and clinical studies on the therapeutic potential of cannabinoids specifically as it relates to movement disorders. Results The pharmacology of cannabis is complex with over 60 neuroactive chemicals identified to date. The endocannabinoid system modulates neurotransmission involved in motor function, particularly within the basal ganglia. Preclinical research in animal models of several movement disorders have shown variable evidence for symptomatic benefits but more consistently suggest potential neuroprotective effects in several animal models of Parkinson’s (PD) and Huntington’s disease (HD). Clinical observations and clinical trials of cannabinoid-based therapies suggests a possible benefit of cannabinoids for tics and probably no benefit for tremor in multiple sclerosis or dyskinesias or motor symptoms in PD. Data are insufficient to draw conclusions regarding HD, dystonia or ataxia and nonexistent for myoclonus or restless legs syndrome. Conclusions Despite the widespread publicity about the medical benefits of cannabinoids, further preclinical and clinical research is needed to better characterize the pharmacological, physiological and therapeutic effects of this class of drugs in movement disorders. PMID:25649017

Post-stroke Movement Disorders: Clinical Manifestations and Pharmacological Management

PubMed Central

Siniscalchi, Antonio; Gallelli, Luca; Labate, Angelo; Malferrari, Giovanni; Palleria, Caterina; Sarro, Giovambattista De

2012-01-01

Involuntary abnormal movements have been reported after ischaemic and haemorrhagic stroke. Post stroke movement disorders can appear as acute or delayed sequel. At the moment, for many of these disorders the knowledge of pharmacological treatment is still inadequate. Dopaminergic and GABAergic systems may be mainly involved in post-stroke movement disorders. This article provides a review on drugs commonly used in post-stroke movement disorders, given that some post-stroke movement disorders have shown a partial benefit with pharmacological approach. PMID:23449883

Post-stroke Movement Disorders: Clinical Manifestations and Pharmacological Management.

PubMed

Siniscalchi, Antonio; Gallelli, Luca; Labate, Angelo; Malferrari, Giovanni; Palleria, Caterina; Sarro, Giovambattista De

2012-09-01

Involuntary abnormal movements have been reported after ischaemic and haemorrhagic stroke. Post stroke movement disorders can appear as acute or delayed sequel. At the moment, for many of these disorders the knowledge of pharmacological treatment is still inadequate. Dopaminergic and GABAergic systems may be mainly involved in post-stroke movement disorders. This article provides a review on drugs commonly used in post-stroke movement disorders, given that some post-stroke movement disorders have shown a partial benefit with pharmacological approach.

A review on eye movement studies in childhood and adolescent psychiatry.

PubMed

Rommelse, Nanda N J; Van der Stigchel, Stefan; Sergeant, Joseph A

2008-12-01

The neural substrates of eye movement measures are largely known. Therefore, measurement of eye movements in psychiatric disorders may provide insight into the underlying neuropathology of these disorders. Visually guided saccades, antisaccades, memory guided saccades, and smooth pursuit eye movements will be reviewed in various childhood psychiatric disorders. The four aims of this review are (1) to give a thorough overview of eye movement studies in a wide array of psychiatric disorders occurring during childhood and adolescence (attention-deficit/hyperactivity disorder, oppositional deviant disorder and conduct disorder, autism spectrum disorders, reading disorder, childhood-onset schizophrenia, Tourette's syndrome, obsessive compulsive disorder, and anxiety and depression), (2) to discuss the specificity and overlap of eye movement findings across disorders and paradigms, (3) to discuss the developmental aspects of eye movement abnormalities in childhood and adolescence psychiatric disorders, and (4) to present suggestions for future research. In order to make this review of interest to a broad audience, attention will be given to the clinical manifestation of the disorders and the theoretical background of the eye movement paradigms.

[The complex approach to the rehabilitation of post-stroke patients with movement disorders in the early rehabilitation period].

PubMed

Khabirov, F A; Khaĭbullin, T I; Grigor'eva, O V

2011-01-01

We studied 110 patients, aged 34-71 years, in the early rehabilitation period after stroke who were admitted to a rehabilitation neurologic department of Kazan. The rehabilitation approach was based on the combination of several methods: kinesitherapy, transcranial magnetic stimulation and cerebrolysin treatment. This complex reanimation allowed to achieve the marked functional restoration of movement abilities in many cases that was correlated with the normalization of brain bioelectric activity (the increase of alpha-rhythm spectral power, the decrease of slow-wave EEG components). The combined use of these three methods was more effective than a combination of any two of them.

Entry into the nuclear pore complex is controlled by a cytoplasmic exclusion zone containing dynamic GLFG-repeat nucleoporin domains.

PubMed

Fiserova, Jindriska; Spink, Matthew; Richards, Shane A; Saunter, Christopher; Goldberg, Martin W

2014-01-01

Nuclear pore complexes (NPCs) mediate nucleocytoplasmic movement. The central channel contains proteins with phenylalanine-glycine (FG) repeats, or variations (GLFG, glycine-leucine-phenylalanine-glycine). These are 'intrinsically disordered' and often represent weak interaction sites that become ordered upon interaction. We investigated this possibility during nuclear transport. Using electron microscopy of S. cerevisiae, we show that NPC cytoplasmic filaments form a dome-shaped structure enclosing GLFG domains. GLFG domains extend out of this structure and are part of an 'exclusion zone' that might act as a partial barrier to entry of transport-inert proteins. The anchor domain of a GLFG nucleoporin locates exclusively to the central channel. By contrast, the localisation of the GLFG domains varied between NPCs and could be cytoplasmic, central or nucleoplasmic and could stretch up to 80 nm. These results suggest a dynamic exchange between ordered and disordered states. In contrast to diffusion through the NPC, transport cargoes passed through the exclusion zone and accumulated near the central plane. We also show that movement of cargo through the NPC is accompanied by relocation of GLFG domains, suggesting that binding, restructuring and movement of these domains could be part of the translocation mechanism.

Sleep-related movement disorders.

PubMed

Merlino, Giovanni; Gigli, Gian Luigi

2012-06-01

Several movement disorders may occur during nocturnal rest disrupting sleep. A part of these complaints is characterized by relatively simple, non-purposeful and usually stereotyped movements. The last version of the International Classification of Sleep Disorders includes these clinical conditions (i.e. restless legs syndrome, periodic limb movement disorder, sleep-related leg cramps, sleep-related bruxism and sleep-related rhythmic movement disorder) under the category entitled sleep-related movement disorders. Moreover, apparently physiological movements (e.g. alternating leg muscle activation and excessive hypnic fragmentary myoclonus) can show a high frequency and severity impairing sleep quality. Clinical and, in specific cases, neurophysiological assessments are required to detect the presence of nocturnal movement complaints. Patients reporting poor sleep due to these abnormal movements should undergo non-pharmacological or pharmacological treatments.

Power-law scaling for macroscopic entropy and microscopic complexity: Evidence from human movement and posture

NASA Astrophysics Data System (ADS)

Hong, S. Lee; Bodfish, James W.; Newell, Karl M.

2006-03-01

We investigated the relationship between macroscopic entropy and microscopic complexity of the dynamics of body rocking and sitting still across adults with stereotyped movement disorder and mental retardation (profound and severe) against controls matched for age, height, and weight. This analysis was performed through the examination of center of pressure (COP) motion on the mediolateral (side-to-side) and anteroposterior (fore-aft) dimensions and the entropy of the relative phase between the two dimensions of motion. Intentional body rocking and stereotypical body rocking possessed similar slopes for their respective frequency spectra, but differences were revealed during maintenance of sitting postures. The dynamics of sitting in the control group produced lower spectral slopes and higher complexity (approximate entropy). In the controls, the higher complexity found on each dimension of motion was related to a weaker coupling between dimensions. Information entropy of the relative phase between the two dimensions of COP motion and irregularity (complexity) of their respective motions fitted a power-law function, revealing a relationship between macroscopic entropy and microscopic complexity across both groups and behaviors. This power-law relation affords the postulation that the organization of movement and posture dynamics occurs as a fractal process.

Update on autism spectrum disorder: vaccines, genomes, and social skills training.

PubMed

McGuinness, Teena M

2015-04-01

Despite making significant progress in understanding autism spectrum disorder (ASD) and its genetic underpinnings, controversy remains regarding ASD and its historical, erroneous association with vaccines. This controversy includes the latest anti-vaccine movement that caused a recurrence of the almost vanquished measles and mumps diseases. The history of ASD, complexities of research involving ASD genetics, and benefits of social skills training are explored. Copyright 2015, SLACK Incorporated.

Paraneoplastic movement disorders.

PubMed

Mehta, Shyamal H; Morgan, John C; Sethi, Kapil D

2009-07-01

Neurologic paraneoplastic syndromes (NPSs) result from damage to the nervous system due to the remote effects of cancer not related to metastasis, infection, or metabolic derangements. NPSs are rare, affecting 1 in 10,000 patients with cancer. Pathogenesis is likely related to the immune mechanisms: normal neural tissue is mistakenly attacked due to the similarity in the onconeural antigens expressed by the tumor cells. Among the various "classic" and other NPSs, this review focuses on paraneoplastic movement disorders, including ataxia due to cerebellar degeneration, stiff-person syndrome, opsoclonus-myoclonus syndrome, chorea, parkinsonism, and tremor. The recently described syndrome of paraneoplastic anti-N-methyl-D-aspartate receptor encephalitis is also included, given that these patients have complex movements such as stereotypies and dyskinesias in addition to psychiatric symptoms, altered sensorium, and other neurologic signs. Although variable, treatment and prognosis of NPSs rely heavily on treatment of the underlying malignancy and immunotherapy.

Psychogenic Movement Disorders

PubMed Central

Morgante, Francesca; Edwards, Mark J.; Espay, Alberto J.

2013-01-01

Purpose of Review This review describes the main clinical features of psychogenic (functional) movement disorders and reports recent advances in diagnosis, pathophysiology, and treatment. Recent Findings The terminology and definition of patients with psychogenic movement disorders remain subjects of controversy; the term “functional” has been used more frequently in the literature in recent years regarding the neurobiological substrate underpinning these disorders. Correct diagnosis of psychogenic movement disorders should rely not on the exclusion of organic disorders or the sole presence of psychological factors but on the observation or elicitation of clinical features related to the specific movement disorder (ie, a positive or inclusionary rather than exclusionary diagnosis). Sudden onset, spontaneous remissions, and variability over time or during clinical examination are useful “red flags” suggestive of a psychogenic movement disorder. Imaging studies have demonstrated impaired connectivity between limbic and motor areas involved in movement programming and hypoactivity of a brain region that compares expected data with actual sensory data occurring during voluntary movement. Treatment of psychogenic movement disorders begins with ensuring the patient’s acceptance of the diagnosis during the initial debriefing and includes nonpharmacologic (cognitive-behavioral therapy, physiotherapy) and pharmacologic options. Summary Psychogenic movement disorders represent a challenging disorder for neurologists to diagnose and treat. Recent advances have increased understanding of the neurobiological mechanism of psychogenic movement disorders. Treatment with cognitive strategies and physical rehabilitation can benefit some patients. As short duration of disease correlates with better prognosis, early diagnosis and initiation of treatment are critical. PMID:24092294

Clinical features of movement disorders.

PubMed

Yung, C Y

1983-08-01

The descriptive aspects of all types of movement disorders and their related syndromes and terminologies used in the literature are reviewed and described. This comprises the features of (a) movement disorders secondary to neurological diseases affecting the extrapyramidal motor system, such as: athetosis, chorea, dystonia, hemiballismus, myoclonus, tremor, tics and spasm, (b) drug induced movement disorders, such as: akathisia, akinesia, hyperkinesia, dyskinesias, extrapyramidal syndrome, and tardive dyskinesia, and (c) abnormal movements in psychiatric disorders, such as: mannerism, stereotyped behaviour and psychomotor retardation. It is intended to bring about a more comprehensive overview of these movement disorders from a phenomenological perspective, so that clinicians can familiarize with these features for diagnosis. Some general statements are made in regard to some of the characteristics of movement disorders.

Classification of movement disorders.

PubMed

Fahn, Stanley

2011-05-01

The classification of movement disorders has evolved. Even the terminology has shifted, from an anatomical one of extrapyramidal disorders to a phenomenological one of movement disorders. The history of how this shift came about is described. The history of both the definitions and the classifications of the various neurologic conditions is then reviewed. First is a review of movement disorders as a group; then, the evolving classifications for 3 of them--parkinsonism, dystonia, and tremor--are covered in detail. Copyright © 2011 Movement Disorder Society.

[Tics and Gilles de la Tourette syndrome].

PubMed

Tijero-Merino, B; Gómez-Esteban, J C; Zarranz, J J

2009-01-23

Tourette syndrome is a neurologic disorder characterized by involuntary vocal and motor tics. It affects around 1 to 2% of school-age children and is the most common movement disorder in paediatric age. Tics are involuntary or semivoluntary, sudden, brief, intermittent, repetitive movements (motor tics) or sounds (phonic tics). It is often associated with psychiatric comorbidities, mainly attention-deficit/hyperactivity disorder and obsessive-compulsive disorder. Given its diverse presentation, Tourette's syndrome can almost mimic many hyperkinetic disorders, making the diagnosis challenging at times. The etiology of this syndrome is thought to be related to basal ganglia dysfunction and many clues have been pursued, both genetic and environmental factors, but no compelling major contribution to the pathogenesis of the disease has yet emerged. Treatment can be behavioural, pharmacologic, or surgical, and is dictated by the most incapacitating symptoms. Alpha-2-adrenergic agonists are the first line of pharmacologic therapy, but dopamine-receptor-blocking drugs are required for multiple, complex tics. Dopamine-receptor-blocking drugs are associated with potential side effects. Appropriate diagnosis and treatment can substantially improve quality of life and psychosocial functioning in affected patients.

The Sleep Disorder in Anti-lgLON5 Disease.

PubMed

Gaig, Carles; Iranzo, Alex; Santamaria, Joan; Graus, Francesc

2018-05-23

To review the clinical and polysomnographic features of the sleep disorder occurring in the recently described anti-IgLON5 disease. The hallmark of the disease is the presence of antibodies against IgLON5, a neural cell adhesion molecule of unknown function. The disease presents a robust HLA association, and the neuropathological examination shows a novel neuronal tauopathy with predominant hypothalamic and brainstem involvement. Most patients (> 80%) present sleep-related vocalizations with movements and behaviors and sleep-disordered breathing. Polysomnographic studies show (1) a complex NREM sleep parasomnia at sleep initiation characterized by undifferentiated NREM or poorly structured N2 sleep with sleep-talking or mumbling, and simple or finalistic movements followed by normal periods of N3 or N2 NREM sleep, (2) REM sleep behavior disorder (RBD), and (3) obstructive sleep apnea with stridor. The last two features appear mainly in periods where NREM sleep normalizes. Identification of the anti-IgLON5 sleep disorder is important to suspect the disease. The combination of abnormal NREM sleep initiation, followed by normal periods of NREM sleep and RBD, represents a novel parasomnia.

Mirror me: Imitative responses in adults with autism.

PubMed

Schunke, Odette; Schöttle, Daniel; Vettorazzi, Eik; Brandt, Valerie; Kahl, Ursula; Bäumer, Tobias; Ganos, Christos; David, Nicole; Peiker, Ina; Engel, Andreas K; Brass, Marcel; Münchau, Alexander

2016-02-01

Dysfunctions of the human mirror neuron system have been postulated to underlie some deficits in autism spectrum disorders including poor imitative performance and impaired social skills. Using three reaction time experiments addressing mirror neuron system functions under simple and complex conditions, we examined 20 adult autism spectrum disorder participants and 20 healthy controls matched for age, gender and education. Participants performed simple finger-lifting movements in response to (1) biological finger and non-biological dot movement stimuli, (2) acoustic stimuli and (3) combined visual-acoustic stimuli with different contextual (compatible/incompatible) and temporal (simultaneous/asynchronous) relation. Mixed model analyses revealed slower reaction times in autism spectrum disorder. Both groups responded faster to biological compared to non-biological stimuli (Experiment 1) implying intact processing advantage for biological stimuli in autism spectrum disorder. In Experiment 3, both groups had similar 'interference effects' when stimuli were presented simultaneously. However, autism spectrum disorder participants had abnormally slow responses particularly when incompatible stimuli were presented consecutively. Our results suggest imitative control deficits rather than global imitative system impairments. © The Author(s) 2015.

Movement disorders in a twins pair: a casual expression or genetic determination?

PubMed

Gennaro, Leonarda; Russo, Luigi; Losito, Luciana; Zaccaria, Alessia; De Rinaldis, Marta; Trabacca, Antonio

2010-01-01

A twin study is an excellent means of assessing the contribution of heritability to motor behaviour. We present a movement video-analysis of a monozygotic twins pair with a motor repertoire which is almost totally constituted by persistent and subcontinuous motor stereotypies. The specific aim of this study is to verify the heritable quantum of motor behaviour and to determine which among the motor patterns we analysed are more likely to be conditioned by inheritance. Stereotyped movements were videotaped in two standardized sessions: at rest and in relation to preordained sensory stimulations. We estimated the concordance index (CI) between the observers to evaluate the reliability of the observations. The validity was accepted as being CI>0.80. The results showed a very high concordance rate (>90%) for all the stereotypies analysed. An almost superimposable trend of the stereotyped movements was found both at rest and in relation to the sensory stimulations. Such strong data suggest that genetic factors have a primary influence on all the movement disorders analysed. This study contributes to a better understanding of the complex relationships between genes and functions. 2010 Elsevier Ltd. All rights reserved.

Comparison of visual sensitivity to human and object motion in autism spectrum disorder.

PubMed

Kaiser, Martha D; Delmolino, Lara; Tanaka, James W; Shiffrar, Maggie

2010-08-01

Successful social behavior requires the accurate detection of other people's movements. Consistent with this, typical observers demonstrate enhanced visual sensitivity to human movement relative to equally complex, nonhuman movement [e.g., Pinto & Shiffrar, 2009]. A psychophysical study investigated visual sensitivity to human motion relative to object motion in observers with autism spectrum disorder (ASD). Participants viewed point-light depictions of a moving person and, for comparison, a moving tractor and discriminated between coherent and scrambled versions of these stimuli in unmasked and masked displays. There were three groups of participants: young adults with ASD, typically developing young adults, and typically developing children. Across masking conditions, typical observers showed enhanced visual sensitivity to human movement while observers in the ASD group did not. Because the human body is an inherently social stimulus, this result is consistent with social brain theories [e.g., Pelphrey & Carter, 2008; Schultz, 2005] and suggests that the visual systems of individuals with ASD may not be tuned for the detection of socially relevant information such as the presence of another person. Reduced visual sensitivity to human movements could compromise important social behaviors including, for example, gesture comprehension.

Developmental and benign movement disorders in childhood.

PubMed

Bonnet, Cecilia; Roubertie, Agathe; Doummar, Diane; Bahi-Buisson, Nadia; Cochen de Cock, Valérie; Roze, Emmanuel

2010-07-30

Developmental and benign movement disorders are a group of movement disorders with onset in the neonatal period, infancy, or childhood. They are characterized by the absence of associated neurological manifestations and by their favorable outcome, although developmental abnormalities can be occasionally observed. Knowledge of the clinical, neurophysiological, and pathogenetic aspects of these disorders is poor. Based on a comprehensive review of the literature and our practical experience, this article summarizes current knowledge in this area. We pay special attention to the recognition and management of these movement disorders in children. (c) 2010 Movement Disorder Society.

Low Dimensional Temporal Organization of Spontaneous Eye Blinks in Adults with Developmental Disabilities and Stereotyped Movement Disorder

PubMed Central

Lee, Mei-Hua; Bodfish, James W.; Lewis, Mark H.; Newell, Karl M.

2009-01-01

This study investigated the mean rate and time-dependent sequential organization of spontaneous eye blinks in adults with intellectual and developmental disability (IDD) and individuals from this group that were additionally categorized with stereotypic movement disorder (IDD+SMD). The mean blink rate was lower in the IDD+SMD group than the IDD group and both of these groups had a lower blink rate than a contrast group of healthy adults. In the IDD group the n to n+1 sequential organization over time of the eye blink durations showed a stronger compensatory organization than the contrast group suggesting decreased complexity/dimensionality of eye-blink behavior. Very low blink rate (and thus insufficient time series data) precluded analysis of time-dependent sequential properties in the IDD+SMD group. These findings support the hypothesis that both IDD and SMD are associated with a reduction in the dimension and adaptability of movement behavior and that this may serve as a risk factor for the expression of abnormal movements. PMID:19819672

Microtubules and cellulose microfibrils: how intimate is their relationship?

PubMed

Emons, Anne Mie C; Höfte, Herman; Mulder, Bela M

2007-07-01

The recent visualization of the motion of fluorescently labeled cellulose synthase complexes by Alexander Paredez and colleagues heralds the start of a new era in the science of the plant cell wall. Upon drug-induced complete depolymerization, the movement of the complexes does not become disordered but instead establishes an apparently self-organized novel pattern. The ability to label complexes in vivo has provided us with the ideal tool for tackling the intriguing question of the underlying default mechanisms at play.

Rating Scales for Movement Disorders With Sleep Disturbances: A Narrative Review

PubMed Central

Rodríguez-Blázquez, Carmen; Forjaz, Maria João; Kurtis, Monica M.; Balestrino, Roberta; Martinez-Martin, Pablo

2018-01-01

Introduction: In recent years, a wide variety of rating scales and questionnaires for movement disorders have been developed and published, making reviews on their contents, and attributes convenient for the potential users. Sleep disorders are frequently present in movement disorders, and some movement disorders are accompanied by specific sleep difficulties. Aim: The aim of this study is to perform a narrative review of the most frequently used rating scales for movement disorders with sleep problems, with special attention to those recommended by the International Parkinson and Movement Disorders Society. Methods: Online databases (PubMed, SCOPUS, Web of Science, Google Scholar), related references from papers and websites and personal files were searched for information on comprehensive or global rating scales which assessed sleep disturbances in the following movement disorders: akathisia, chorea, dystonia, essential tremor, myoclonus, multiple system atrophy, Parkinson's disease, progressive supranuclear palsy, and tics and Tourette syndrome. For each rating scale, its objective and characteristics, as well as a summary of its psychometric properties and recommendations of use are described. Results: From 22 rating scales identified for the selected movement disorders, only 5 included specific questions on sleep problems. Movement Disorders Society-Unified Parkinson's Disease Rating scale (MDS-UPDRS), Non-Motor Symptoms Scale and Questionnaire (NMSS and NMSQuest), Scales for Outcomes in Parkinson's Disease (SCOPA)-Autonomic and Progressive Supranuclear Palsy Rating Scale (PSPRS) were the only rating scales that included items for assessing sleep disturbances. Conclusions: Despite sleep problems are frequent in movement disorders, very few of the rating scales addresses these specific symptoms. This may contribute to an infra diagnosis and mistreatment of the sleep problems in patients with movement disorders.

Eye Movement Disorders

MedlinePlus

... t work properly. There are many kinds of eye movement disorders. Two common ones are Strabismus - a disorder ... of the eyes, sometimes called "dancing eyes" Some eye movement disorders are present at birth. Others develop over ...

Human amygdala activation during rapid eye movements of rapid eye movement sleep: an intracranial study.

PubMed

Corsi-Cabrera, María; Velasco, Francisco; Del Río-Portilla, Yolanda; Armony, Jorge L; Trejo-Martínez, David; Guevara, Miguel A; Velasco, Ana L

2016-10-01

The amygdaloid complex plays a crucial role in processing emotional signals and in the formation of emotional memories. Neuroimaging studies have shown human amygdala activation during rapid eye movement sleep (REM). Stereotactically implanted electrodes for presurgical evaluation in epileptic patients provide a unique opportunity to directly record amygdala activity. The present study analysed amygdala activity associated with REM sleep eye movements on the millisecond scale. We propose that phasic activation associated with rapid eye movements may provide the amygdala with endogenous excitation during REM sleep. Standard polysomnography and stereo-electroencephalograph (SEEG) were recorded simultaneously during spontaneous sleep in the left amygdala of four patients. Time-frequency analysis and absolute power of gamma activity were obtained for 250 ms time windows preceding and following eye movement onset in REM sleep, and in spontaneous waking eye movements in the dark. Absolute power of the 44-48 Hz band increased significantly during the 250 ms time window after REM sleep rapid eye movements onset, but not during waking eye movements. Transient activation of the amygdala provides physiological support for the proposed participation of the amygdala in emotional expression, in the emotional content of dreams and for the reactivation and consolidation of emotional memories during REM sleep, as well as for next-day emotional regulation, and its possible role in the bidirectional interaction between REM sleep and such sleep disorders as nightmares, anxiety and post-traumatic sleep disorder. These results provide unique, direct evidence of increased activation of the human amygdala time-locked to REM sleep rapid eye movements. © 2016 European Sleep Research Society.

Cognitive and Psychiatric Phenotypes of Movement Disorders in Children: A Systematic Review

ERIC Educational Resources Information Center

Ben-Pazi, Hilla; Jaworowski, Solomon; Shalev, Ruth S

2011-01-01

Aim: The cognitive and psychiatric aspects of adult movement disorders are well established, but specific behavioural profiles for paediatric movement disorders have not been delineated. Knowledge of non-motor phenotypes may guide treatment and determine which symptoms are suggestive of a specific movement disorder and which indicate medication…

An investigation into the relationship between vigabatrin, movement disorders, and brain magnetic resonance imaging abnormalities in children with infantile spasms.

PubMed

Fong, Choong Yi; Osborne, John P; Edwards, Stuart W; Hemingway, Cheryl; Hancock, Eleanor; Johnson, Anthony L; Kennedy, Colin R; Kneen, Rachel; Likeman, Marcus; Lux, Andrew L; Mordekar, Santosh R; Murugan, Velayutham; Newton, Richard W; Pike, Michael; Quinn, Michael; Spinty, Stefan; Vassallo, Grace; Verity, Christopher M; Whitney, Andrea; O'Callaghan, Finbar J K

2013-09-01

We aimed to investigate the relationship between movement disorders, changes on brain magnetic resonance imaging (MRI), and vigabatrin therapy in children with infantile spasms. Retrospective review and brain MRI analysis of children enrolled in the International Collaborative Infantile Spasms Study (ICISS) who developed a movement disorder on vigabatrin therapy. Comparisons were made with controls within ICISS who had no movement disorder. Ten of 124 infants had a movement disorder and in eight it had developed on vigabatrin therapy. Two had a movement disorder that resolved on dose-reduction of vigabatrin, one had improvement on withdrawing vigabatrin, two had resolution without any dose change, and in three it persisted despite vigabatrin withdrawal. The typical brain MRI changes associated with vigabatrin therapy were noted in two infants. Ten control infants were identified. Typical MRI changes noted with vigabatrin were noted in three controls. It is possible that in two out of eight cases, vigabatrin was associated with the development of a movement disorder. In six out of eight cases a causal relationship was less plausible. The majority of infants treated with vigabatrin did not develop a movement disorder. MRI changes associated with vigabatrin do not appear to be specifically related to the movement disorder. © 2013 Mac Keith Press.

Tourette Syndrome in the Classroom

ERIC Educational Resources Information Center

Coffman, Amanda

2012-01-01

Tourette syndrome is a neurodevelopmental disorder believed to be genetic. The most visible symptom is the presence of tics. These involuntary movements or sounds can range from simple (sniffing, throat clearing, blinking) to complex (words or phrases, hopping, body contortions). They may be frequent for a few weeks, then fade away almost…

Supporting LGBTQ Students in Physical Education: Changing the Movement Landscape

ERIC Educational Resources Information Center

Block, Betty Ann

2014-01-01

Scholars have sought to identify the complexity and multidimensionality of the phenomenon of sexual identity formation since the American Psychiatric Association declassified homosexuality as a mental disorder in 1973 (Bayer, 1981). This article addresses the manner in which the needs of lesbian, gay, bisexual, transgender, and queer [LGBTQ]…

Complex Movement Disorders at Disease Onset in Childhood Narcolepsy with Cataplexy

ERIC Educational Resources Information Center

Plazzi, Giuseppe; Pizza, Fabio; Palaia, Vincenzo; Franceschini, Christian; Poli, Francesca; Moghadam, Keivan K.; Cortelli, Pietro; Nobili, Lino; Bruni, Oliviero; Dauvilliers, Yves; Lin, Ling; Edwards, Mark J.; Mignot, Emmanuel; Bhatia, Kailash P.

2011-01-01

Narcolepsy with cataplexy is characterized by daytime sleepiness, cataplexy (sudden loss of bilateral muscle tone triggered by emotions), sleep paralysis, hypnagogic hallucinations and disturbed nocturnal sleep. Narcolepsy with cataplexy is most often associated with human leucocyte antigen-DQB1*0602 and is caused by the loss of…

Dr Samuel Johnson's movement disorder.

PubMed Central

Murray, T J

1979-01-01

Dr Samuel Johnson was noted by his friends to have almost constant tics and gesticulations, which startled those who met him for the first time. He also made noises and whistling sounds; he made repeated sounds and words and irregular or blowing respiratory noises. Further, he often carried out pronounced compulsive acts, such as touching posts, measuring his footsteps on leaving a room, and performing peculiar complex gestures and steps before crossing a threshold. His symptoms of (a) involuntary muscle jerking movements and complex motor acts, (b) involuntary vocalisation, and (c) compulsive actions constitute the symptom complex of Gilles de la Tourette syndrome (Tourette's syndrome), from which Johnson suffered most of his life. This syndrome is of increasing interest recently because it responds to haloperidol, and because there are new insights into a possible biochemical basis for the tics, vocalisations, and compulsions. PMID:380753

Eye Movement Desensitization and Reprocessing (EMDR) and the anxiety disorders: clinical and research implications of an integrated psychotherapy treatment.

PubMed

Shapiro, F

1999-01-01

Four recent, independent, rigorously controlled studies of Eye Movement Desensitization and Reprocessing (EMDR) have reported that 84 to 100% of single-trauma victims no longer maintain the posttraumatic stress disorder diagnosis after the equivalent of three 90-minute sessions. The rapidity of EMDR treatment effects makes many ancillary research opportunities available. Specifically, the increased number of cases resolved in a relatively short period of time allows investigation of neurophysiological phenomena, patterns of cognitive and emotional processing, component analyses of a large range of procedural factors, and evaluation of the efficacy of application to diverse clinical populations. Unfortunately, some research has been conducted that has been severely hampered by insufficient treatment fidelity and lack of clinical validity. Consequently, this article will attempt to describe the procedures and protocols that are believed to contribute to EMDR's clinical effects and are, therefore, suggested for the EMDR treatment and research of the anxiety disorders. This is particularly relevant given the misconceptions that have abounded due to the unfortunate naming of the procedure after the eye movements, which have proved to be only one of many useful types of stimulation, and only one of many components of this complex, integrated treatment.

Stereotypy and Motor Control: Differences in the Postural Stability Dynamics of Persons with Stereotyped and Dyskinetic Movement Disorders.

ERIC Educational Resources Information Center

Bodfish, James W.; Parker, Dawn E.; Lewis, Mark H.; Sprague, Robert L.; Newell, Karl M.

2001-01-01

This study examined whether dynamic measures of postural stability differentiated stereotyped movement disorder from dyskinetic movement disorder in a severely mentally retarded population. Participants (N=20) with either stereotypy or dyskinesia movement disorders and a control group were given a goal-oriented postural stability task. Both groups…

Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations.

PubMed

Pont-Sunyer, Claustre; Bressman, Susan; Raymond, Deborah; Glickman, Amanda; Tolosa, Eduardo; Saunders-Pullman, Rachel

2015-06-01

With the advent of large genetic studies examining both symptomatic and asymptomatic individuals, whether and how to disclose genetic research results have become pressing questions. The need is particularly acute in the case of LRRK2 research: Movement centers worldwide are recruiting cohorts of individuals with Parkinson's disease (PD) and their family members, including asymptomatic carriers. Clinical features and treatment are complex and evolving, and disclosure policies vary at different sites and have been modified during the course of some studies. We present the major ethical principles of autonomy, beneficence, nonmaleficence, and honesty that should guide disclosure policies in studies of families with LRRK2 mutations. We make recommendations regarding genetic counseling, policies of either active or passive disclosure, responsibilities of funders to budget for genetic counseling, clinical genetic testing where locally required for disclosure, and aspects of study design to avoid mandatory disclosure whenever feasible. © 2015 International Parkinson and Movement Disorder Society. © 2015 International Parkinson and Movement Disorder Society.

Evidence-based pain management: is the concept of integrative medicine applicable?

PubMed Central

2012-01-01

This article is dedicated to the concept of predictive, preventive, and personalized (integrative) medicine beneficial and applicable to advance pain management, overviews recent insights, and discusses novel minimally invasive tools, performed under ultrasound guidance, enhanced by model-guided approach in the field of musculoskeletal pain and neuromuscular diseases. The complexity of pain emergence and regression demands intellectual-, image-guided techniques personally specified to the patient. For personalized approach, the combination of the modalities of ultrasound, EMG, MRI, PET, and SPECT gives new opportunities to experimental and clinical studies. Neuromuscular imaging should be crucial for emergence of studies concerning advanced neuroimaging technologies to predict movement disorders, postural imbalance with integrated application of imaging, and functional modalities for rehabilitation and pain management. Scientific results should initiate evidence-based preventive movement programs in sport medicine rehabilitation. Traditional medicine and mathematical analytical approaches and education challenges are discussed in this review. The physiological management of exactly assessed pathological condition, particularly in movement disorders, requires participative medical approach to gain harmonized and sustainable effect. PMID:23088743

ECEM (Eye Closure, Eye Movements): application to depersonalization disorder.

PubMed

Harriet, E Hollander

2009-10-01

Eye Closure, Eye Movements (ECEM) is a hypnotically-based approach to treatment that incorporates eye movements adapted from the Eye Movement Desensitization and Reprocessing (EMDR) protocol in conjunction with hypnosis for the treatment of depersonalization disorder. Depersonalization Disorder has been differentiated from post-traumatic stress disorders and has recently been conceptualized as a subtype of panic disorder (Baker et al., 2003; David, Phillips, Medford, & Sierra, 2004; Segui et. al., 2000). During ECEM, while remaining in a hypnotic state, clients self-generated six to seven trials of eye movements to reduce anticipatory anxiety associated with depersonalization disorder. Eye movements were also used to process triggers that elicited breath holding, often followed by episodes of depersonalization. Hypnotic suggestions were used to reverse core symptoms of depersonalization, subjectively described as "feeling unreal" (Simeon et al., 1997).

Multiscale entropy analysis of electroencephalography during sleep in patients with Parkinson disease.

PubMed

Chung, Chen-Chih; Kang, Jiunn-Horng; Yuan, Rey-Yue; Wu, Dean; Chen, Chih-Chung; Chi, Nai-Fang; Chen, Po-Chih; Hu, Chaur-Jong

2013-07-01

Sleep disorders are frequently seen in patients with Parkinson disease (PD), including rapid eye movement (REM) behavior disorder and periodic limb movement disorder. However, knowledge about changes in non-REM sleep in patients with PD is limited. This study explored the characteristics of electroencephalography (EEG) during sleep in patients with PD and non-PD controls. We further conducted multiscale entropy (MSE) analysis to evaluate and compare the complexity of sleep EEG for the 2 groups. There were 9 patients with PD (Hoehn-Yahr stage 1 or 2) and 11 non-PD controls. All participants underwent standard whole-night polysomnography (PSG), which included 23 channels, 6 of which were for EEG. The raw data of the EEG were extracted and subjected to MSE analysis. Patients with PD had a longer sleep onset time and a higher spontaneous EEG arousal index. Sleep stage-specific increased MSE was observed in patients with PD during non-REM sleep. The difference was more marked and significant at higher time scale factors (TSFs). In conclusion, increased biosignal complexity, as revealed by MSE analysis, was found in patients with PD during non-REM sleep at high TSFs. This finding might reflect a compensatory mechanism for early defects in neuronal network control machinery in PD.

Functional Movement Disorder

MedlinePlus

... or stress-related movement disorders). A number of biological and psychosocial factors may act together to bring ... or stress-related movement disorders). A number of biological and psychosocial factors may act together to bring ...

[Obsessive-compulsive symptoms, tics, stereotypic movements or need for absolute consistency? The occurrence of repetitive activities in patients with pervasive developmental disorders--case studies].

PubMed

Bryńska, Anita; Lipińska, Elzbieta; Matelska, Monika

2011-01-01

Repetitive and stereotyped behaviours in the form of stereotyped interests or specific routine activities are one ofthe diagnostic criteria in pervasive developmental disorders. The occurrence of repetitive behaviours in patients with pervasive developmental disorders is a starting point for questions about the type and classification criteria of such behaviours. The aim of the article is to present case studies of patients with pervasive developmental disorders and co-morbid symptoms in the form of routine activities, tics, obsessive-compulsive symptoms or stereotyped behaviours. The first case study describes a patient with Asperger's syndrome and obsessive compulsive symptoms. The diagnostic problems regarding complex motor tics are discussed in the second case study which describes a patient with Asperger's syndrome and Gilles de la Tourette syndrome. The third and fourth case study describes mono-zygotic twins with so called High Functioning Autism whose repetitive activities point to either obsessive compulsive symptoms, stereotypic movements, need for absolute consistency or echopraxia. The possible comorbidity of pervasive developmental disorders and symptoms in the form of repetitive behaviours, possible interactions as well as diagnostic challenges is discussed in the article.

Motor stereotypy disorders.

PubMed

Muthugovindan, Deivasumathy; Singer, Harvey

2009-04-01

This review highlights recent advances in understanding the clinical features, prevalence, and outcomes of motor stereotypy disorders in typically developing children. Longitudinal data indicate that stereotypies in children with normal intelligence show an early age of onset, chronicity, and high prevalence of comorbid difficulties, including tics, obsessive-compulsive behaviors, and attention deficit hyperactivity disorder. The underlying abnormality remains unknown, but there is increasing evidence for Mendelian inheritance and a neurobiological mechanism. Primary motor stereotypies are relatively common in childhood and can be subdivided into three groups (common, head nodding, and complex motor). Movements are similar to those seen in children with autistic spectrum disorders, mental retardation, and sensory deprivation. The role of pharmacotherapy is not established and behavioral therapy can be beneficial.

[Autism in children. Speech, behavior and motor activity point to diagnosis].

PubMed

Neumärker, K J

2001-02-01

Austistic disorders characteristically involve specific impairments of social skills, of the language and of stereotyped body movements. L Kanner and H. Asperger were the first to describe these psychopathologic features, which still form the core of the diagnostic criteria of contemporary psychiatric classification systems, ICD-10 and DSM-IV, in the category pervasive developmental disorders. Useful diagnostic tools have been developed to establish the clinical diagnosis. The results of research point to a predominantly genetic pathogenesis involving a complex interaction of multiple genes. While no causal treatments are available for these heterogenic disorders, there are many therapeutic concepts. Although some treatments may achieve significant improvements, autistic disorders usually mean a lifelong individual impairment.

Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections: an overview.

PubMed

Esposito, S; Bianchini, S; Baggi, E; Fattizzo, M; Rigante, D

2014-12-01

The acronym PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) has been used to describe a syndrome characterized by various obsessions, compulsions, tics, hyperactivity, motor stereotypies, and paroxysmal movement disorders that are correlated with prior infection by group A beta-hemolytic Streptococcus pyogenes (GABHS) infections. Five clinical criteria can be used to diagnose PANDAS: (1) the presence of obsessive-compulsive disorder (OCD) and/or any other tic disorders; (2) prepuberal onset (between 3 years of age and the start of puberty); (3) abrupt onset and relapsing-remitting symptom course; (4) a distinct association with GABHS infection; and (5) association with neurological abnormalities during exacerbations (adventitious movements or motoric hyperactivity). The exact pathogenesis of PANDAS remains unclear, and several theories that focus on multiple etiologic or contributive factors have emerged. PANDAS appears to be a neurobiological disorder that potentially complicates GABHS infections in genetically susceptible individuals. The current standard of care for PANDAS patients remains symptomatic, and cognitive behavioral therapy, such as exposure and response prevention, combined with family counseling and psychoeducation, should be the first approach for treating PANDAS. This review examines current theories of PANDAS pathogenesis, identifies possible treatments for managing this complex condition, and highlights areas for future research. Moving forward, developing more standardized diagnostic criteria and identifying specific laboratory markers to facilitate PANDAS diagnoses are crucial.

Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias.

PubMed

Richter, Angelika; Hamann, Melanie; Wissel, Jörg; Volk, Holger A

2015-01-01

Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals.

Rhythmic movement disorder in childhood: An integrative review.

PubMed

Gwyther, Amy R M; Walters, Arthur S; Hill, Catherine M

2017-10-01

Rhythmic movement disorder consists of repetitive stereotypic movements, such as head banging or body rocking, that recur every second or so and may last from a few minutes to hours, usually prior to sleep onset. This review of childhood rhythmic movement disorder highlights the lack of systematic research into core aspects of the condition, relying heavily on small case series or case reports. Interpretation is further limited by almost universal failure to confirm the core diagnostic criteria (C) of the International classification of sleep disorders (III), namely that the rhythmic movements should have clinical consequences. Nonetheless, a number of themes emerge. Rhythmic movement disorder is likely to start in infancy and have a developmental course with spontaneous resolution in early childhood in many cases. Factors associated with persistence are, however, unclear. Associations with ADHD and neurodevelopmental disorders are intriguing, require further study and may shed light on the underlying cause of the condition. There is a pressing need for a systematic approach to classify rhythmic movement disorder, to allow standardization of the much needed research into the underlying aetiology and treatment of this relatively neglected sleep disorder. Copyright © 2016 Elsevier Ltd. All rights reserved.

The analysis of the influence of fractal structure of stimuli on fractal dynamics in fixational eye movements and EEG signal

NASA Astrophysics Data System (ADS)

Namazi, Hamidreza; Kulish, Vladimir V.; Akrami, Amin

2016-05-01

One of the major challenges in vision research is to analyze the effect of visual stimuli on human vision. However, no relationship has been yet discovered between the structure of the visual stimulus, and the structure of fixational eye movements. This study reveals the plasticity of human fixational eye movements in relation to the ‘complex’ visual stimulus. We demonstrated that the fractal temporal structure of visual dynamics shifts towards the fractal dynamics of the visual stimulus (image). The results showed that images with higher complexity (higher fractality) cause fixational eye movements with lower fractality. Considering the brain, as the main part of nervous system that is engaged in eye movements, we analyzed the governed Electroencephalogram (EEG) signal during fixation. We have found out that there is a coupling between fractality of image, EEG and fixational eye movements. The capability observed in this research can be further investigated and applied for treatment of different vision disorders.

Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias

PubMed Central

Richter, Angelika; Hamann, Melanie; Wissel, Jörg; Volk, Holger A.

2015-01-01

Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals. PMID:26664992

[Diagnosis and treatment of tics].

PubMed

Topka, H

2007-05-21

Tics are repetitive and sudden purposeless movements. Phenomenologically tics are differentiated as simple or complex, motor or vocal. Transient forms, which last less than 1 year, occur frequently in child hood. For Tourette syndrome, multiple simple and complex motor and vocal tics are present for more than one year. Frequently, additional symptoms of an obsessive-compulsive disorder or an attention deficit hyperactivity disorder are present. There is no therapy for the cause of tics. For minor symptoms or if a transient tic disorder is suspected, the use of medications should be avoided. Instead the patient and if necessary, the parents should be informed in detail and given advice. Particularly for children, it is important to exclude antiepileptic drugs as the cause of tics. For chronic tics and for pronounced symptoms, drug therapy with neuroleptic drugs or clonidine is a possibility. However, the efficacy of these substances is limited.

Movement Disorders Induced by the "Atypical" Antipsychotic Aripiprazole.

PubMed

Selfani, Karim; Soland, Valérie L; Chouinard, Sylvain; Huot, Philippe

2017-01-01

Aripiprazole is an antipsychotic that acts as a partial agonist at dopamine D2 receptors. Because of its partial agonist activity, it was believed that aripiprazole would be less susceptible than typical antipsychotics to induce extrapyramidal side effects. However, a few case-reports and case-series detailing aripiprazole-induced movement disorders have been published, suggesting that aripiprazole-induced movement disorders may arise. Here, we seek to report further cases of aripiprazole-induced movement disorders to raise the awareness of clinicians on this adverse effect. Patients referred to the André-Barbeau Movement Disorder clinic treated with aripiprazole were enrolled in this study. Their charts were retrospectively reviewed and data regarding past psychiatric history, past antipsychotic medication, duration of aripiprazole treatment, daily dose of aripiprazole administered, and resulting movement disorders were collected. We report 14 cases of parkinsonism, tardive dyskinesia and akathisia induced by aripiprazole. Some of these, mostly the parkinsonian phenotype, abated spontaneously following drug discontinuation, whereas others, mostly related to tardive phenomena, persisted after aripiprazole was discontinued, and required treatment. This case-series adds to the existing literature that suggests that movement disorders may arise following treatment with aripiprazole. Clinicians should be aware of this potential side effect when prescribing aripiprazole to patients.

Advances in surgery for movement disorders.

PubMed

Rowland, Nathan C; Sammartino, Francesco; Lozano, Andres M

2017-01-01

Movement disorder surgery has evolved throughout history as our knowledge of motor circuits and ways in which to manipulate them have expanded. Today, the positive impact on patient quality of life for a growing number of movement disorders such as Parkinson's disease is now well accepted and confirmed through several decades of randomized, controlled trials. Nevertheless, residual motor symptoms after movement disorder surgery such as deep brain stimulation and lack of a definitive cure for these conditions demand that advances continue to push the boundaries of the field and maximize its therapeutic potential. Similarly, advances in related fields - wireless technology, artificial intelligence, stem cell and gene therapy, neuroimaging, nanoscience, and minimally invasive surgery - mean that movement disorder surgery stands at a crossroads to benefit from unique combinations of all these developments. In this minireview, we outline some of these developments as well as evidence supporting topics of recent discussion and controversy in our field. Moving forward, expectations remain high that these improvements will come to encompass an even broader range of patients who might benefit from this therapy and decrease the burden of disease associated with these conditions. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Prevalence of neuroleptic-induced movement disorders in chronic schizophrenia inpatients.

PubMed

Janno, Sven; Holi, Matti; Tuisku, Katinka; Wahlbeck, Kristian

2004-01-01

Since most of the world's schizophrenia patients are treated with conventional antipsychotics, the authors evaluated various methods for establishing the prevalence of neuroleptic-induced movement disorders in these patients. DSM-IV criteria and established score thresholds on a movement disorder rating scale were used to identify cases of neuroleptic-induced movement disorder in a representative Estonian patient sample of 99 chronic institutionalized schizophrenia patients, 18-65 years old, treated with conventional neuroleptics (79.8%) or clozapine (20.2%). Neuroleptic-induced movement disorders according to DSM-IV criteria were found in 61.6% of the group: 31.3% had neuroleptic-induced akathisia, 23.2% had neuroleptic-induced parkinsonism, and 32.3% had neuroleptic-induced tardive dyskinesia. Prevalence rates for akathisia and tardive dyskinesia were similar when either DSM-IV criteria or rating scale scores were used, but the prevalence rate for parkinsonism was much lower per DSM-IV criteria than according to rating scale score. Nearly two-thirds of chronic schizophrenia patients suffered from a neuroleptic-induced movement disorder. Globally, extrapyramidal adverse effects still impose a huge burden on the majority of neuroleptic-treated individuals with schizophrenia. The discrepancy between the standard identification methods for neuroleptic-induced movement disorder indicate the need for further research.

The Role of a Neuropsychologist on a Movement Disorders Deep Brain Stimulation Team.

PubMed

Kubu, Cynthia S

2018-05-01

The term movement disorders is misleading in the implication that the symptoms are limited to motor problems. Most movement disorders include a variety of neurobehavioral and neurocognitive symptoms that require neuropsychological expertise. The goal of this paper is to provide a rationale and practical roadmap for neuropsychologists' involvement in a Movement Disorders team with a specific focus on pre-operative deep brain stimulation (DBS) evaluations. Pragmatic recommendations regarding requisite skills, clinical practice, recommendations, communication, and benefits are outlined.

Disorders of Nonverbal Communication

ERIC Educational Resources Information Center

Starkweather, C. Woodruff

1977-01-01

The author explores the idea that nonverbal communication can be disordered, describes several types of nonverbal disorders (such as impaired eye movement, inappropriate body movements, idiosyncratic mannerisms, and voice disorders), explains sources of nonverbal disorders, and suggests therapeutic procedures. (IM)

Focal status epilepticus and progressive dyskinesia: A novel phenotype for glycine receptor antibody-mediated neurological disease in children.

PubMed

Chan, D W S; Thomas, T; Lim, M; Ling, S; Woodhall, M; Vincent, A

2017-03-01

Antibody-associated disorders of the central nervous system are increasingly recognised in adults and children. Some are known to be paraneoplastic, whereas in others an infective trigger is postulated. They include disorders associated with antibodies to N-methyl-d-aspartate receptor (NMDAR), voltage-gated potassium channel-complexes (VGKC-complex), GABA B receptor or glycine receptor (GlyR). With antibodies to NMDAR or VGKC-complexes, distinct clinical patterns are well characterised, but as more antibodies are discovered, the spectra of associated disorders are evolving. GlyR antibodies have been detected in patients with progressive encephalopathy with rigidity and myoclonus (PERM), or stiff man syndrome, both rare but disabling conditions. We report a case of a young child with focal seizures and progressive dyskinesia in whom GlyR antibodies were detected. Anticonvulsants and immunotherapy were effective in treating both the seizures and movement disorder with good neurological outcome and with a decline in the patient's serum GlyR-Ab titres. Glycine receptor antibodies are associated with focal status epilepticus and seizures, encephalopathy and progressive dyskinesia and should be evaluated in autoimmune encephalitis. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Principles and approaches to the treatment of immune-mediated movement disorders.

PubMed

Mohammad, Shekeeb S; Dale, Russell C

2018-03-01

Immune mediated movement disorders include movement disorders in the context of autoimmune encephalitis such as anti-NMDAR encephalitis, post-infectious autoimmune movement disorders such as Sydenham chorea, paraneoplastic autoimmune movement disorders such as opsoclonus myoclonus ataxia syndrome, and infection triggered conditions such as paediatric acute neuropsychiatric syndrome. This review focuses on the approach to treatment of immune mediated movement disorders, which requires an understanding of the immunopathogenesis, whether the disease is destructive or 'altering', and the natural history of disease. Factors that can influence outcome include the severity of disease, the delay before starting therapy, use of multimodal therapy and whether the course is monophasic or relapsing. Although the four main conditions listed above have different pathophysiological processes, there are general themes that broadly apply including: early diagnosis and treatment is better, minimise the severity of disease, escalate treatment if the patient is not responding to initial treatments, and minimise relapse. Copyright © 2017. Published by Elsevier Ltd.

Non-motor symptoms in Parkinson's disease.

PubMed

Poewe, W

2008-04-01

Although still considered a paradigmatic movement disorder, Parkinson's disease (PD) is associated with a broad spectrum of non-motor symptoms. These include disorders of mood and affect with apathy, anhedonia and depression, cognitive dysfunction and hallucinosis, as well as complex behavioural disorders. Sensory dysfunction with hyposmia or pain is almost universal, as are disturbances of sleep-wake cycle regulation. Autonomic dysfunction including orthostatic hypotension, urogenital dysfunction and constipation is also present to some degree in a majority of patients. Whilst overall non-motor symptoms become increasingly prevalent with advancing disease, many of them can also antedate the first occurrence of motor signs - most notably depression, hyposmia or rapid eye movement sleep behaviour disorder (RBD). Although exact clinicopathological correlations for most of these non-motor features are still poorly understood, the occurrence of constipation, RBD or hyposmia prior to the onset of clinically overt motor dysfunction would appear consistent with the ascending hypothesis of PD pathology proposed by Braak and colleagues. Screening these early non-motor features might, therefore, be one approach towards early 'preclinical' diagnosis of PD. This review article provides an overview of the clinical spectrum of non-motor symptoms in PD together with a brief review of treatment options.

Immune-mediated extrapyramidal movement disorders, including Sydenham chorea.

PubMed

Dale, Russell C

2013-01-01

Immune-mediated extrapyramidal movement disorders typically occur in previously healthy children. Immune-mediated movement disorders may occur as a postinfectious, paraneoplastic, or idiopathic process. Sydenham chorea (SC) is the classical poststreptococcal movement and psychiatric disorder, and may be associated with other features of rheumatic fever. The outcome is typically good, although residual chorea, psychiatric disturbance, and relapses are possible. Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) is a syndrome of streptococcal-induced tics and obsessive-compulsive disorder. Although a number of investigators have reported an association between streptococcal infection and neuropsychiatric syndromes, the PANDAS hypothesis is controversial. Encephalitis lethargica is an encephalitic illness with parkinsonism, dyskinesias, and psychiatric disturbance as dominant features. The exact disease mechanism is not understood, although an autoimmune process is suspected. NMDA-R encephalitis is a new entity characterized by encephalitis with dramatic psychiatric disturbance, dyskinesias, cognitive alteration, and seizures. Patients have autoantibodies against the NMDA-R that appear to be pathogenic: immune therapies appear warranted to minimize disability. Movement disorders are also described associated with systemic lupus erythematosus and antiphospholipid syndrome. The differential diagnosis and investigation approach of acute-onset movement disorders are also discussed. Copyright © 2013 Elsevier B.V. All rights reserved.

Fixing the Mirrors: A Feasibility Study of the Effects of Dance Movement Therapy on Young Adults with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Koch, Sabine C.; Mehl, Laura; Sobanski, Esther; Sieber, Maik; Fuchs, Thomas

2015-01-01

From the 1970s on, case studies reported the effectiveness of therapeutic mirroring in movement with children with autism spectrum disorder. In this feasibility study, we tested a dance movement therapy intervention based on mirroring in movement in a population of 31 young adults with autism spectrum disorder (mainly high-functioning and…

Anti-IgLON 5 Disease.

PubMed

Heidbreder, Anna; Philipp, Konstanze

2018-06-23

This review aims to give an overview about the current knowledge of this novel neurological disorder associated to IgLON-5 antibodies and its treatment. Anti-IgLON5 disease was first formally described in 2014. This newly discovered disorder recaps a complex neurological disorder with sleep, movement, and neuroimmunological and neurodegenerative aspects. The clinical manifestation of the anti-IgLON5 disease is very heterogeneous mostly including a sleep disorder with non-rapid eye movement (REM) sleep parasomnia and REM behavior disorder besides obstructive sleep apnea syndrome and stridor. Other neurological features (bulbar symptoms, gait abnormalities, cognitive dysfunction) are common. Until today, the mean age of diagnosis was mostly above the age of 60 with a balanced distribution of sex. Neuropathological examination showed neuronal loss and gliosis associated with an atypical tauopathy mainly involving the tegmentum of brainstem and hypothalamus. Although the function of the antibodies stays unclear so far, the evidence for the pathogenetic role of the antibody becomes more evident. Among the association to HLA-DRB1*10:01 and HLA-DQB1*05:01 as a potential factor for susceptibility, immunopathological findings are promising. So far, the pathophysiology of anti-IgLON5 disease is not sufficiently enlightened and needs more interdisciplinary approach to a better understanding of this interesting disorder at the border of autoimmunity and neurodegeneration. Immunotherapy has been frequently used but its therapeutic effect is limited.

The forgotten cause of stridor in the emergency department.

PubMed

Ng, Tian-Tee

2017-01-01

Paradoxical Vocal Fold Movement Disorder is where the larynx exhibits paradoxical vocal cords closure during respiration, creating partial airway obstruction. Causes of vocal fold movement disorder are multifactorial, and patients describe tightness of throat, difficulty getting air in, have stridor, and do not respond to inhalers. We propose using transnasal laryngoscopy examination, which will show narrowing of vocal cords on inspiration, and The Pittsburgh Vocal Cord Dysfunction Index with a cutoff score of ≥4 to distinguish vocal fold movement disorder from asthma and other causes of stridor. Management of paradoxical vocal fold movement disorder involves a combination of pharmacological, psychological, psychiatric, and speech training. Paradoxical vocal fold movement disorder is a very treatable cause of stridor, so long as it is identified and other organic causes are excluded.

Fight or flight? Dream content during sleepwalking/sleep terrors vs. rapid eye movement sleep behavior disorder.

PubMed

Uguccioni, Ginevra; Golmard, Jean-Louis; de Fontréaux, Alix Noël; Leu-Semenescu, Smaranda; Brion, Agnès; Arnulf, Isabelle

2013-05-01

Dreams enacted during sleepwalking or sleep terrors (SW/ST) may differ from those enacted during rapid eye movement sleep behavior disorder (RBD). Subjects completed aggression, depression, and anxiety questionnaires. The mentations associated with SW/ST and RBD behaviors were collected over their lifetime and on the morning after video polysomnography (PSG). The reports were analyzed for complexity, length, content, setting, bizarreness, and threat. Ninety-one percent of 32 subjects with SW/ST and 87.5% of 24 subjects with RBD remembered an enacted dream (121 dreams in a lifetime and 41 dreams recalled on the morning). These dreams were more complex and less bizarre, with a higher level of aggression in the RBD than in SW/ST subjects. In contrast, we found low aggression, anxiety, and depression scores during the daytime in both groups. As many as 70% of enacted dreams in SW/ST and 60% in RBD involved a threat, but there were more misfortunes and disasters in the SW/ST dreams and more human and animal aggressions in the RBD dreams. The response to these threats differed, as the sleepwalkers mostly fled from a disaster (and 25% fought back when attacked), while 75% of RBD subjects counterattacked when assaulted. The dreams setting included their bedrooms in 42% SW/ST dreams, though this finding was exceptional in the RBD dreams. Different threat simulations and modes of defense seem to play a role during dream-enacted behaviors (e.g., fleeing a disaster during SW/ST, counterattacking a human or animal assault during RBD), paralleling and exacerbating the differences observed between normal dreaming in nonrapid eye movement (NREM) vs rapid eye movement (REM) sleep. Copyright © 2013 Elsevier B.V. All rights reserved.

The improvement of movement and speech during rapid eye movement sleep behaviour disorder in multiple system atrophy.

PubMed

De Cock, Valérie Cochen; Debs, Rachel; Oudiette, Delphine; Leu, Smaranda; Radji, Fatai; Tiberge, Michel; Yu, Huan; Bayard, Sophie; Roze, Emmanuel; Vidailhet, Marie; Dauvilliers, Yves; Rascol, Olivier; Arnulf, Isabelle

2011-03-01

Multiple system atrophy is an atypical parkinsonism characterized by severe motor disabilities that are poorly levodopa responsive. Most patients develop rapid eye movement sleep behaviour disorder. Because parkinsonism is absent during rapid eye movement sleep behaviour disorder in patients with Parkinson's disease, we studied the movements of patients with multiple system atrophy during rapid eye movement sleep. Forty-nine non-demented patients with multiple system atrophy and 49 patients with idiopathic Parkinson's disease were interviewed along with their 98 bed partners using a structured questionnaire. They rated the quality of movements, vocal and facial expressions during rapid eye movement sleep behaviour disorder as better than, equal to or worse than the same activities in an awake state. Sleep and movements were monitored using video-polysomnography in 22/49 patients with multiple system atrophy and in 19/49 patients with Parkinson's disease. These recordings were analysed for the presence of parkinsonism and cerebellar syndrome during rapid eye movement sleep movements. Clinical rapid eye movement sleep behaviour disorder was observed in 43/49 (88%) patients with multiple system atrophy. Reports from the 31/43 bed partners who were able to evaluate movements during sleep indicate that 81% of the patients showed some form of improvement during rapid eye movement sleep behaviour disorder. These included improved movement (73% of patients: faster, 67%; stronger, 52%; and smoother, 26%), improved speech (59% of patients: louder, 55%; more intelligible, 17%; and better articulated, 36%) and normalized facial expression (50% of patients). The rate of improvement was higher in Parkinson's disease than in multiple system atrophy, but no further difference was observed between the two forms of multiple system atrophy (predominant parkinsonism versus cerebellar syndrome). Video-monitored movements during rapid eye movement sleep in patients with multiple system atrophy revealed more expressive faces, and movements that were faster and more ample in comparison with facial expression and movements during wakefulness. These movements were still somewhat jerky but lacked any visible parkinsonism. Cerebellar signs were not assessable. We conclude that parkinsonism also disappears during rapid eye movement sleep behaviour disorder in patients with multiple system atrophy, but this improvement is not due to enhanced dopamine transmission because these patients are not levodopa-sensitive. These data suggest that these movements are not influenced by extrapyramidal regions; however, the influence of abnormal cerebellar control remains unclear. The transient disappearance of parkinsonism here is all the more surprising since no treatment (even dopaminergic) provides a real benefit in this disabling disease.

Genetics Home Reference: PPM-X syndrome

MedlinePlus

... a condition characterized by psychotic disorders (most commonly bipolar disorder ), a pattern of movement abnormalities known as parkinsonism, ... Additional Information & Resources MedlinePlus (4 links) Health Topic: Bipolar Disorder Health Topic: Developmental Disabilities Health Topic: Movement Disorders ...

Medication-induced acute dystonic reaction: the challenge of diagnosing movement disorders in the intensive care unit.

PubMed

Digby, Geneviève; Jalini, Shirin; Taylor, Sean

2015-09-21

A 62-year-old man presented with left middle cerebral artery stroke. 1 h postadministration of tissue plasminogen activator, he received a total of 4 mg of haloperidol for combativeness. He developed partial complex status epilepticus, requiring benzodiazepines, phenytoin, propofol and intubation. 5 h later, he developed recurrent stereotyped tonic movements involving arching of the back, extension of the arms and contraction of opposing muscle groups. Repeat CT scan of the head showed evolving insular infarct. Differential diagnoses for these movements included tonic/clonic seizures, extensor (decerebrate) posturing from haemorrhagic conversion, neuroleptic malignant syndrome, or dystonic reaction. Given the lack of response to antiseizure medications, the recent administration of haloperidol, and the prompt resolution of movements following diphenhydramine administration, an acute dystonic reaction was considered. This atypical case of a critically ill patient with stroke highlights the fact that these patients may have multiple abnormal movements requiring careful analysis to guide diagnosis-specific management. 2015 BMJ Publishing Group Ltd.

Hypnosis and movement disorders: State of the art and perspectives.

PubMed

Flamand-Roze, C; Célestin-Lhopiteau, I; Roze, E

Hypnosis might represent an interesting complementary therapeutic approach to movement disorders, as it takes into account not only symptoms, but also well-being, and empowers patients to take a more active role in their treatment. Our review of the literature on the use of hypnosis to treat movement disorders was done by systematically searching the PubMed database for reports published between 1984 and November 2015. The following variables were extracted from each selected paper: study design; sample size; type of movement disorder; hypnotic procedure; treatment duration; and efficacy. Thirteen papers were selected for detailed analysis. Most concerned tremor in Parkinson's disease and tics in Gilles de la Tourette syndrome. Although promising, the data were insufficient to allow conclusions to be drawn on the efficacy of hypnosis in movement disorders or to recommend its use in this setting. Well-designed studies taking into account some specific methodological challenges are needed to determine the possible therapeutic utility of hypnosis in movement disorders. In addition to the potential benefits for such patients, hypnosis might also be useful for studying the neuroanatomical and functional underpinnings of normal and abnormal movements. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Facial recognition in primary focal dystonia.

PubMed

Rinnerthaler, Martina; Benecke, Cord; Bartha, Lisa; Entner, Tanja; Poewe, Werner; Mueller, Joerg

2006-01-01

The basal ganglia seem to be involved in emotional processing. Primary dystonia is a movement disorder considered to result from basal ganglia dysfunction, and the aim of the present study was to investigate emotion recognition in patients with primary focal dystonia. Thirty-two patients with primary cranial (n=12) and cervical (n=20) dystonia were compared to 32 healthy controls matched for age, sex, and educational level on the facially expressed emotion labeling (FEEL) test, a computer-based tool measuring a person's ability to recognize facially expressed emotions. Patients with cognitive impairment or depression were excluded. None of the patients received medication with a possible cognitive side effect profile and only those with mild to moderate dystonia were included. Patients with primary dystonia showed isolated deficits in the recognition of disgust (P=0.007), while no differences between patients and controls were found with regard to the other emotions (fear, happiness, surprise, sadness, and anger). The findings of the present study add further evidence to the conception that dystonia is not only a motor but a complex basal ganglia disorder including selective emotion recognition disturbances. Copyright (c) 2005 Movement Disorder Society.

Stereotyped movement disorder in ICD-11.

PubMed

Stein, Dan J; Woods, Douglas W

2014-01-01

According to current proposals for ICD-11, stereotyped movement disorder will be classified in the grouping of neurodevelopmental disorders, with a qualifier to indicate whether self-injury is present, similar to the classification of stereotypic movement disorder in DSM-5. At the same time, the WHO ICD-11 Working Group on the Classification of Obsessive-Compulsive and Related Disorders has proposed a grouping of body-focused repetitive behavior disorders within the obsessive-compulsive and related disorders (OCRD) cluster to include trichotillomania and skin-picking disorder. DSM-5 has taken a slightly different approach: trichotillomania and excoriation (skin picking) disorder are included in the OCRD grouping, while body-focused repetitive behavior disorder is listed under other specified forms of OCRD. DSM-5 also includes a separate category of nonsuicidal self-injury in the section on "conditions for further study." There are a number of unresolved nosological questions regarding the relationships among stereotyped movement disorder, body-focused repetitive behavior disorders, and nonsuicidal self-injury. In this article, we attempt to provide preliminary answers to some of these questions as they relate to the ICD-11 classification of mental and behavioral disorders.

Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis.

PubMed

Gasca-Salas, Carmen; Masellis, Mario; Khoo, Edwin; Shah, Binit B; Fisman, David; Lang, Anthony E; Kleiner-Fisman, Galit

2016-01-01

Mutations in granulin (PGRN) and tau (MAPT), and hexanucleotide repeat expansions near the C9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. Although behavior, language and movement presentations are common, the relationship between genetic subgroup and movement disorder phenomenology is unclear. We conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration. Electronic databases were searched using terms related to frontotemporal lobar degeneration and movement disorders. Articles were included when cases had a proven genetic cause. Study-specific prevalence estimates for clinical features were transformed using Freeman-Tukey arcsine transformation, allowing for pooled estimates of prevalence to be generated using random-effects models. The mean age at onset was earlier in those with MAPT mutations compared to PGRN (p<0.001) and C9orf72 (p = 0.024). 66.5% of subjects had an initial non-movement presentation that was most likely a behavioral syndrome (35.7%). At any point during the disease, parkinsonism was the most common movement syndrome reported in 79.8% followed by progressive supranuclear palsy (PSPS) and corticobasal (CBS) syndromes in 12.2% and 10.7%, respectively. The prevalence of movement disorder as initial presentation was higher in MAPT subjects (35.8%) compared to PGRN subjects (10.1). In those with a non-movement presentation, language disorder was more common in PGRN subjects (18.7%) compared to MAPT subjects (5.4%). This represents the first systematic review and meta-analysis of the occurrence of movement disorder phenomenology in genetic frontotemporal lobar degeneration. Standardized prospective collection of clinical information in conjunction with genetic characterization will be crucial for accurate clinico-genetic correlation.

Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis

PubMed Central

Gasca-Salas, Carmen; Masellis, Mario; Khoo, Edwin; Shah, Binit B.; Fisman, David; Lang, Anthony E.; Kleiner-Fisman, Galit

2016-01-01

Background Mutations in granulin (PGRN) and tau (MAPT), and hexanucleotide repeat expansions near the C9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. Although behavior, language and movement presentations are common, the relationship between genetic subgroup and movement disorder phenomenology is unclear. Objective We conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration. Methods Electronic databases were searched using terms related to frontotemporal lobar degeneration and movement disorders. Articles were included when cases had a proven genetic cause. Study-specific prevalence estimates for clinical features were transformed using Freeman-Tukey arcsine transformation, allowing for pooled estimates of prevalence to be generated using random-effects models. Results The mean age at onset was earlier in those with MAPT mutations compared to PGRN (p<0.001) and C9orf72 (p = 0.024). 66.5% of subjects had an initial non-movement presentation that was most likely a behavioral syndrome (35.7%). At any point during the disease, parkinsonism was the most common movement syndrome reported in 79.8% followed by progressive supranuclear palsy (PSPS) and corticobasal (CBS) syndromes in 12.2% and 10.7%, respectively. The prevalence of movement disorder as initial presentation was higher in MAPT subjects (35.8%) compared to PGRN subjects (10.1). In those with a non-movement presentation, language disorder was more common in PGRN subjects (18.7%) compared to MAPT subjects (5.4%). Summary This represents the first systematic review and meta-analysis of the occurrence of movement disorder phenomenology in genetic frontotemporal lobar degeneration. Standardized prospective collection of clinical information in conjunction with genetic characterization will be crucial for accurate clinico-genetic correlation. PMID:27100392

New Communitarianism Movements and Complex Utopia

NASA Astrophysics Data System (ADS)

Akdeniz, K. Gediz

Simulation is a rapidly growing field in social sciences. Simulation theories in social sciences are considered to critique social dynamics and societies which are mostly simulated by media, cinema, TV, internet, etc. Recently we (Akdeniz KG, Disorder in complex human system. In: Fritzsch H, Phua KK (eds) Singapore: proceedings of the conference in Honour of Murray Gell-Mann's 80th birthday quantum mechanics, elementary particles, quantum cosmology and complexity. World Scientific Publishing, Hackensack, pp 630-637, 2009) purposed a simulation theory as a critique theory to investigate disordered human behaviors. In this theory, "Disorder-Sensitive Human Behaviors (DSHB) Simulation Theory", chaotic awareness is also considered as a reality principle in simulation world to complete Baudrillard Simulation Theory (Baudrillard J, Simulacra and simulation. University of Michigan Press, Michigan, 1995). We call the emergence of this reality as zuhur which is different than simulacra. More recently we proposed the complex utopia (Akdeniz KG, From Simulacra to Zuhur in Complex Utopia. 11th International Conference of the Utopian Studies Society, Lublin, 2010; Akdeniz KG, The new identities of the physicist: cyborg-physicist and post-physicist. In: Proceedings of the conference of world international conference of technology and education, Beirut, 2010) to critique the complex societies and communities in simulation world. The challenging agents in the complex utopia are both simulacra and zuhur. In this paper we would like to review "What is the complex utopia?" And we shall critique some global events in framework of complex utopia with particular examples in socio-economic and political contexts.

Psychostimulants and Movement Disorders

PubMed Central

Asser, Andres; Taba, Pille

2015-01-01

Psychostimulants are a diverse group of substances with their main psychomotor effects resembling those of amphetamine, methamphetamine, cocaine, or cathinone. Due to their potential as drugs of abuse, recreational use of most of these substances is illegal since 1971 Convention on Psychotropic Substances. In recent years, new psychoactive substances have emerged mainly as synthetic cathinones with new molecules frequently complementing the list. Psychostimulant related movement disorders are a known entity often seen in emergency rooms around the world. These admissions are becoming more frequent as are fatalities associated with drug abuse. Still the legal constraints of the novel synthetic molecules are bypassed. At the same time, chronic and permanent movement disorders are much less frequently encountered. These disorders frequently manifest as a combination of movement disorders. The more common symptoms include agitation, tremor, hyperkinetic and stereotypical movements, cognitive impairment, and also hyperthermia and cardiovascular dysfunction. The pathophysiological mechanisms behind the clinical manifestations have been researched for decades. The common denominator is the monoaminergic signaling. Dopamine has received the most attention but further research has demonstrated involvement of other pathways. Common mechanisms linking psychostimulant use and several movement disorders exist. PMID:25941511

Are smooth pursuit eye movements altered in chronic whiplash-associated disorders? A cross-sectional study.

PubMed

Kongsted, A; Jørgensen, L V; Bendix, T; Korsholm, L; Leboeuf-Yde, C

2007-11-01

To evaluate whether smooth pursuit eye movements differed between patients with long-lasting whiplash-associated disorders and controls when using a purely computerized method for the eye movement analysis. Cross-sectional study comparing patients with whiplash-associated disorders and controls who had not been exposed to head or neck trauma and had no notable neck complaints. Smooth pursuit eye movements were registered while the subjects were seated with and without rotated cervical spine. Thirty-four patients with whiplash-associated disorders with symptoms more than six months after a car collision and 60 controls. Smooth pursuit eye movements were almost identical in patients with chronic whiplash-associated disorders and controls, both when the neck was rotated and in the neutral position. Disturbed smooth pursuit eye movements do not appear to be a distinct feature in patients with chronic whiplash-associated disorders. This is in contrast to results of previous studies and may be due to the fact that analyses were performed in a computerized and objective manner. Other possible reasons for the discrepancy to previous studies are discussed.

Psychostimulants and movement disorders.

PubMed

Asser, Andres; Taba, Pille

2015-01-01

Psychostimulants are a diverse group of substances with their main psychomotor effects resembling those of amphetamine, methamphetamine, cocaine, or cathinone. Due to their potential as drugs of abuse, recreational use of most of these substances is illegal since 1971 Convention on Psychotropic Substances. In recent years, new psychoactive substances have emerged mainly as synthetic cathinones with new molecules frequently complementing the list. Psychostimulant related movement disorders are a known entity often seen in emergency rooms around the world. These admissions are becoming more frequent as are fatalities associated with drug abuse. Still the legal constraints of the novel synthetic molecules are bypassed. At the same time, chronic and permanent movement disorders are much less frequently encountered. These disorders frequently manifest as a combination of movement disorders. The more common symptoms include agitation, tremor, hyperkinetic and stereotypical movements, cognitive impairment, and also hyperthermia and cardiovascular dysfunction. The pathophysiological mechanisms behind the clinical manifestations have been researched for decades. The common denominator is the monoaminergic signaling. Dopamine has received the most attention but further research has demonstrated involvement of other pathways. Common mechanisms linking psychostimulant use and several movement disorders exist.

Movement disorders secondary to craniocerebral trauma.

PubMed

Krauss, Joachim K

2015-01-01

Over the past few decades it has been recognized that traumatic brain injury may result in various movement disorders. In survivors of severe head injury, post-traumatic movement disorders were reported in about 20%, and they persisted in about 10% of patients. The most frequent persisting movement disorder in this population is kinetic cerebellar outflow tremor in about 9%, followed by dystonia in about 4%. While tremor is associated most frequently with cerebellar or mesencephalic lesions, patients with dystonia frequently have basal ganglia or thalamic lesions. Moderate or mild traumatic brain injury only rarely causes persistent post-traumatic movement disorders. It appears that the frequency of post-traumatic movement disorders overall has been declining which most likely is secondary to improved treatment of brain injury. In patients with disabling post-traumatic movement disorders which are refractory to medical treatment, stereotactic neurosurgery can provide long-lasting benefit. While in the past the primary option for severe kinetic tremor was thalamotomy and for dystonia thalamotomy or pallidotomy, today deep brain stimulation has become the preferred treatment. Parkinsonism is a rare consequence of single head injury, but repeated head injury such as seen in boxing can result in chronic encephalopathy with parkinsonian features. While there is still controversy whether or not head injury is a risk factor for the development of Parkinson's disease, recent studies indicate that genetic susceptibility might be relevant. © 2015 Elsevier B.V. All rights reserved.

[Risk factors for tardive movement disorders in schizophrenia].

PubMed

Tenback, D E; Bakker, P R; van Harten, P N

2015-01-01

Tardive movement disorders are common among patients with schizophrenia. Risk factors for movement disorders are of the utmost importance in the context of preventive strategies. To achieve clearer classification of movement disorders in schizophrenia, to identify the risk factors involved and thereby develop strategies to prevent movement disorders. We searched PubMed for prospective studies which had been performed in homogeneous target populations with schizophrenia and which contained well-defined definitions of the movement disorders. From these we selected studies in which risk factors were repeatedly identified. Tardive dyskinesia is well documented. Risk factors for developing tardive dyskinesia are use of antipsychotics, particularly those belonging to the first generation, 'not belonging to the Caucasian race', early extrapyramidal symptoms and older age. So far, there is very little conclusive evidence regarding the genetics of tardive movement disorders. With regard to tardive dyskinesia, not belonging to the Caucasian race and old age are two risk factors that can be quickly determined for the purpose of prevention. In this case it leads to the choice of medication with a low D2 affinity. Furthermore, it is advisable, after commencing treatment with an antipsychotic drug, to evaluate on a regular basis if the patient is showing (early) signs of TD. If TD does occur, there is a choice between medication with a low D-2 affinity or clozapine.

New Model of Action for Mood Stabilizers: Phosphoproteome from Rat Pre-Frontal Cortex Synaptoneurosomal Preparations

PubMed Central

Corena-McLeod, Maria; Walss-Bass, Consuelo; Oliveros, Alfredo; Gordillo Villegas, Andres; Ceballos, Carolina; Charlesworth, Cristine M.; Madden, Benjamin; Linser, Paul J.; Van Ekeris, Leslie; Smith, Kristin; Richelson, Elliott

2013-01-01

Background Mitochondrial short and long-range movements are necessary to generate the energy needed for synaptic signaling and plasticity. Therefore, an effective mechanism to transport and anchor mitochondria to pre- and post-synaptic terminals is as important as functional mitochondria in neuronal firing. Mitochondrial movement range is regulated by phosphorylation of cytoskeletal and motor proteins in addition to changes in mitochondrial membrane potential. Movement direction is regulated by serotonin and dopamine levels. However, data on mitochondrial movement defects and their involvement in defective signaling and neuroplasticity in relationship with mood disorders is scarce. We have previously reported the effects of lithium, valproate and a new antipsychotic, paliperidone on protein expression levels at the synaptic level. Hypothesis Mitochondrial function defects have recently been implicated in schizophrenia and bipolar disorder. We postulate that mood stabilizer treatment has a profound effect on mitochondrial function, synaptic plasticity, mitochondrial migration and direction of movement. Methods Synaptoneurosomal preparations from rat pre-frontal cortex were obtained after 28 daily intraperitoneal injections of lithium, valproate and paliperidone. Phosphorylated proteins were identified using 2D-DIGE and nano LC-ESI tandem mass spectrometry. Results Lithium, valproate and paliperidone had a substantial and common effect on the phosphorylation state of specific actin, tubulin and myosin isoforms as well as other proteins associated with neurofilaments. Furthermore, different subunits from complex III and V of the electron transfer chain were heavily phosphorylated by treatment with these drugs indicating selective phosphorylation. Conclusions Mood stabilizers have an effect on mitochondrial function, mitochondrial movement and the direction of this movement. The implications of these findings will contribute to novel insights regarding clinical treatment and the mode of action of these drugs. PMID:23690912

A Case of Sporadic Creutzfeldt-Jakob Disease Presenting as Conversion Disorder.

PubMed

Yegya-Raman, Nikhil; Aziz, Rehan; Schneider, Daniel; Tobia, Anthony; Leitch, Megan; Nwobi, Onyi

2017-01-01

Background . Creutzfeldt-Jakob disease is a rare disorder of the central nervous system. Its initial diagnosis may be obscured by its variable presentation. This case report illustrates the complexity of diagnosing this disease early in the clinical course, especially when the initial symptoms may be psychiatric. It offers a brief review of the literature and reinforces a role for consultation psychiatry services. Methods . PUBMED/MEDLINE was searched using the terms "Creutzfeldt-Jakob disease", "psychiatric symptoms", "conversion disorder", "somatic symptom disorder", "functional movement disorder", and "functional neurologic disorder". Case . The patient was a 64-year-old woman with no prior psychiatric history who was initially diagnosed with conversion disorder and unspecified anxiety disorder but soon thereafter was discovered to have Creutzfeldt-Jakob disease. Discussion . This case highlights the central role of psychiatric symptoms in early presentations of Creutzfeldt-Jakob disease. Still, few other cases in the literature report functional neurological symptoms as an initial sign. The consultation psychiatrist must remain alert to changing clinical symptoms, especially with uncharacteristic disease presentations.

A Review on Eye Movement Studies in Childhood and Adolescent Psychiatry

ERIC Educational Resources Information Center

Rommelse, Nanda N. J.; Van der Stigchel, Stefan; Sergeant, Joseph A.

2008-01-01

The neural substrates of eye movement measures are largely known. Therefore, measurement of eye movements in psychiatric disorders may provide insight into the underlying neuropathology of these disorders. Visually guided saccades, antisaccades, memory guided saccades, and smooth pursuit eye movements will be reviewed in various childhood…

Saccadic eye movement applications for psychiatric disorders

PubMed Central

Bittencourt, Juliana; Velasques, Bruna; Teixeira, Silmar; Basile, Luis F; Salles, José Inácio; Nardi, Antonio Egídio; Budde, Henning; Cagy, Mauricio; Piedade, Roberto; Ribeiro, Pedro

2013-01-01

Objective The study presented here analyzed the patterns of relationship between oculomotor performance and psychopathology, focusing on depression, bipolar disorder, schizophrenia, attention-deficit hyperactivity disorder, and anxiety disorder. Methods Scientific articles published from 1967 to 2013 in the PubMed/Medline, ISI Web of Knowledge, Cochrane, and SciELO databases were reviewed. Results Saccadic eye movement appears to be heavily involved in psychiatric diseases covered in this review via a direct mechanism. The changes seen in the execution of eye movement tasks in patients with psychopathologies of various studies confirm that eye movement is associated with the cognitive and motor system. Conclusion Saccadic eye movement changes appear to be heavily involved in the psychiatric disorders covered in this review and may be considered a possible marker of some disorders. The few existing studies that approach the topic demonstrate a need to improve the experimental paradigms, as well as the methods of analysis. Most of them report behavioral variables (latency/reaction time), though electrophysiological measures are absent. PMID:24072973

A 30-year history of MPAN case from Russia.

PubMed

Selikhova, M; Fedotova, E; Wiethoff, S; Schottlaender, L V; Klyushnikov, S; Illarioshkin, S N; Houlden, H

2017-08-01

We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group. Copyright © 2017 Elsevier B.V. All rights reserved.

[Electromyography Analysis of Rapid Eye Movement Sleep Behavior Disorder].

PubMed

Nakano, Natsuko; Kinoshita, Fumiya; Takada, Hiroki; Nakayama, Meiho

2018-01-01

Polysomnography (PSG), which records physiological phenomena including brain waves, breathing status, and muscle tonus, is useful for the diagnosis of sleep disorders as a gold standard. However, measurement and analysis are complex for several specific sleep disorders, such as rapid eye movement (REM) sleep behavior disorder (RBD). Usually, brain waves during REM sleep indicate an awakening pattern under relaxed conditions of skeletal and antigravity muscles. However, these muscles are activated during REM sleep when patients suffer from RBD. These activated muscle movements during REM, so-called REM without atonia (RWA) recorded by PSG, may be related to a neurodegenerative disease such as Parkinson's disease. Thus, careful analysis of RWA is significant not only physically, but also clinically. Commonly, manual viewing measurement analysis of RWA is time-consuming. Therefore, quantitative studies on RWA are rarely reported. A software program, developed from Microsoft Office Excel ® , was used to semiautomatically analyze the RWA ratio extracted from PSG to compare with manual viewing measurement analysis. In addition, a quantitative muscle tonus study was carried out to evaluate the effect of medication on RBD patients. Using this new software program, we were able to analyze RWA on the same cases in approximately 15 min as compared with 60 min in the manual viewing measurement analysis. This software program can not only quantify RWA easily but also identify RWA waves for either phasic or tonic bursts. We consider that this software program will support physicians and scientists in their future research on RBD. We are planning to offer this software program for free to physicians and scientists.

Aberrant supplementary motor complex and limbic activity during motor preparation in motor conversion disorder.

PubMed

Voon, Valerie; Brezing, Christina; Gallea, Cecile; Hallett, Mark

2011-11-01

Conversion disorder (CD) is characterized by unexplained neurological symptoms presumed related to psychological issues. The main hypotheses to explain conversion paralysis, characterized by a lack of movement, include impairments in either motor intention or disruption of motor execution, and further, that hyperactive self-monitoring, limbic processing or top-down regulation from higher order frontal regions may interfere with motor execution. We have recently shown that CD with positive abnormal or excessive motor symptoms was associated with greater amygdala activity to arousing stimuli along with greater functional connectivity between the amygdala and supplementary motor area. Here we studied patients with such symptoms focusing on motor initiation. Subjects performed either an internally or externally generated 2-button action selection task in a functional MRI study. Eleven CD patients without major depression and 11 age- and gender-matched normal volunteers were assessed. During both internally and externally generated movement, conversion disorder patients relative to normal volunteers had lower left supplementary motor area (SMA) (implicated in motor initiation) and higher right amygdala, left anterior insula, and bilateral posterior cingulate activity (implicated in assigning emotional salience). These findings were confirmed in a subgroup analysis of patients with tremor symptoms. During internally versus externally generated action in CD patients, the left SMA had lower functional connectivity with bilateral dorsolateral prefrontal cortices. We propose a theory in which previously mapped conversion motor representations may in an arousing context hijack the voluntary action selection system, which is both hypoactive and functionally disconnected from prefrontal top-down regulation. Copyright © 2011 Movement Disorder Society.

Rhythmic movement disorder (head banging) in an adult during rapid eye movement sleep.

PubMed

Anderson, Kirstie N; Smith, Ian E; Shneerson, John M

2006-06-01

Sleep-related rhythmic movements (head banging or body rocking) are extremely common in normal infants and young children, but less than 5% of children over the age of 5 years old exhibit these stereotyped motor behaviors. They characteristically occur during drowsiness or sleep onset rather than in deep sleep or rapid eye movement (REM) sleep. We present a 27-year-old man with typical rhythmic movement disorder that had persisted into adult life and was restricted to REM sleep. This man is the oldest subject with this presentation reported to date and highlights the importance of recognizing this nocturnal movement disorder when it does occur in adults.

Consensus on core phenomena and statements describing Basic Body Awareness Therapy within the movement awareness domain in physiotherapy.

PubMed

Skjaerven, L H; Mattsson, M; Catalan-Matamoros, D; Parker, A; Gard, G; Gyllensten, A Lundvik

2018-02-26

Physiotherapists are facing complex health challenges in the treatment of persons suffering from long-lasting musculoskeletal disorders and mental health problems. Basic Body Awareness Therapy (BBAT) is a physiotherapy approach within the movement awareness domain developed to bridge physical, mental, and relational health challenges. The purpose of this study was to reach a consensus on core phenomena and statements describing BBAT. A consensus-building process was conducted using the nominal group technique (NGT). Twenty-one BBAT experts from 10 European countries participated in a concentrated weekend workshop of 20 hours. All participants signed informed consent. Participants reached a consensus on 138 core phenomena, clustered in three overarching categories: clinical core, historical roots, and research and evaluation phenomena. Of the 106 clinical core phenomena, the participants agreed on three categories of phenomena: movement quality, movement awareness practice, and movement awareness therapy and pedagogy. Furthermore, the participants reached 100 percent consensus on 16 of 30 statements describing BBAT. This study provides a consensus on core phenomena and statements describing BBAT. The data reveal phenomena implemented when promoting movement quality through movement awareness. Data provide clarity in some aspects of the vocabulary as fundamental theory. Further reearch will be developed.

[Primary versus secondary stereotypic movements].

PubMed

Fernandez Alvarez, E

2004-02-01

Stereotypic movements are repetitive patterns of movements whose physiopathology and relations to other neurobehavioural disorders are still only poorly understood. In this paper our aim is to distinguish between primary stereotypic movements, which are the sole manifestation of an anomaly, while the complementary examinations, except for those involving molecular genetics, are normal; associated stereotypic movements, when they meet primary disorder criteria but there are other coexisting independent neurological signs, that is to say, they are neither the cause nor the consequence of the movement disorder; and secondary stereotypic movements, when they are the consequence of a lesion or acquired neurological dysfunction. Examples of primary stereotypic movements include episodes of parasomnia, such as head rocking, in subjects who are otherwise normal, and stereotypic movements due to emotional disorders, severe environmental deprivation or in institutionalised infants. Examples of associated stereotypic movements are those observed in Rett syndrome, in subjects with sensory defects or with mental retardation due to a variety of causes. And as instances of secondary stereotypic movements we have those that can be seen in infinite like syndrome caused by congenital cerebellar lesions. The purpose of the classification is to lay the foundations for the identification of new syndromes, which would without a doubt facilitate research into their physiopathology, their aetiology and the possible therapeutic attitude to be adopted.

Jactatio corporis nocturna and dissociative disorder: a case report.

PubMed

Pelin, Zerrin; Karataş, Semra; Kesebir, Sermin

2012-01-01

Jactatio corporis nocturna is a type of parasomnia. Rhythmic body movements during sleep are commonly observed in infancy and early childhood, and spontaneous resolution is expected after the age of 4 years. Rarely, the body movements persist until adulthood. Rhythmic body movements characteristically occur during the wake-sleep transition period, rather than during other sleep stages. Some psychiatric diseases can co-occur with sleep-related movement disorders. A relationship between parasomnias and dissociative disorders has been recently reported. Herein we present a 33-year-old male with nocturnal repetitive rolling body movements and daytime fatigue. The patient also had loss of memory of some important events (such as the day his daughter underwent surgery), and reported that he sometimes confused reality with dreams had fantasies during which he experienced his spirit rising above to watch his body and fantasy. Detailed neuropsychological assessment showed that the patient also had a dissociative disorder. Video-polysomnographic recordings showed repetitive, rolling body movements that occurred only during rapid eye movement (REM) sleep.

Probing conformational states of glutaryl-CoA dehydrogenase by fragment screening

DOE Office of Scientific and Technical Information (OSTI.GOV)

Begley, Darren W.; Davies, Douglas R.; Hartley, Robert C.

Glutaric acidemia type 1 is an inherited metabolic disorder which can cause macrocephaly, muscular rigidity, spastic paralysis and other progressive movement disorders in humans. The defects in glutaryl-CoA dehydrogenase (GCDH) associated with this disease are thought to increase holoenzyme instability and reduce cofactor binding. Here, the first structural analysis of a GCDH enzyme in the absence of the cofactor flavin adenine dinucleotide (FAD) is reported. The apo structure of GCDH from Burkholderia pseudomallei reveals a loss of secondary structure and increased disorder in the FAD-binding pocket relative to the ternary complex of the highly homologous human GCDH. After conducting amore » fragment-based screen, four small molecules were identified which bind to GCDH from B. pseudomallei. Complex structures were determined for these fragments, which cause backbone and side-chain perturbations to key active-site residues. Structural insights from this investigation highlight differences from apo GCDH and the utility of small-molecular fragments as chemical probes for capturing alternative conformational states of preformed protein crystals.« less

Challenges in management of complex panic disorder in a palliative care setting

PubMed Central

Udo, Itoro; Gash, Amanda

2012-01-01

This is a complex case of post-traumatic stress disorder (PTSD) with comorbid panic disorder occurring in a woman in her mid-60s, with a family history of neurotic illness. PTSD arose in the context of treatment for terminal lung cancer. This patient who had been close to her father watched him die of cancer, when he was about her age. Her diagnosis and treatment prompted traumatic recollections of her father's illness and death that resulted in her voluntary withdrawal from cancer treatment. The goals of treatment were to promptly reduce anxiety, minimise use of sedating pharmacotherapy, promote lucidity and prolong anxiety-free state thereby allowing time for important family interactions. Prompt, sustained relief of severe anxiety was necessary to achieve comfort at the end of life. Skilled additions of psychological therapies (eye movement desensitisation reprocessing, clinical hypnosis and breathing exercises) with combined pharmacotherapy (mirtazepine and quetiapine) led to control of anxiety and reduction of post-traumatic stress. PMID:23047995

Challenges in management of complex panic disorder in a palliative care setting.

PubMed

Udo, Itoro; Gash, Amanda

2012-10-09

This is a complex case of post-traumatic stress disorder (PTSD) with comorbid panic disorder occurring in a woman in her mid-60s, with a family history of neurotic illness. PTSD arose in the context of treatment for terminal lung cancer. This patient who had been close to her father watched him die of cancer, when he was about her age. Her diagnosis and treatment prompted traumatic recollections of her father's illness and death that resulted in her voluntary withdrawal from cancer treatment. The goals of treatment were to promptly reduce anxiety, minimise use of sedating pharmacotherapy, promote lucidity and prolong anxiety-free state thereby allowing time for important family interactions. Prompt, sustained relief of severe anxiety was necessary to achieve comfort at the end of life. Skilled additions of psychological therapies (eye movement desensitisation reprocessing, clinical hypnosis and breathing exercises) with combined pharmacotherapy (mirtazepine and quetiapine) led to control of anxiety and reduction of post-traumatic stress.

Cardiac autonomic denervation in Parkinson's disease is linked to REM sleep behavior disorder.

PubMed

Postuma, Ronald B; Montplaisir, Jacques; Lanfranchi, Paola; Blais, Hélène; Rompré, Sylvie; Colombo, Roberto; Gagnon, Jean-François

2011-07-01

Recent studies have suggested a close connection between autonomic dysfunction and rapid eye movement sleep behavior disorder, which differs in nature from other early-stage markers of Parkinson's disease. In this study we examined the relationship between rapid eye movement sleep behavior disorder and autonomic dysfunction in Parkinson's disease as measured by cardiac beat-to-beat variability. In 53 patients with Parkinson's disease and 36 controls, electrocardiographic trace from a polysomnogram was assessed for measures of beat-to-beat RR variability including RR-standard deviation and frequency domains (low- and high-frequency components). Results were compared between patients with Parkinson's disease and controls, and between patients with Parkinson's disease with and without rapid eye movement sleep behavior disorder. On numerous cardiac autonomic measures, patients with Parkinson's disease showed clear abnormalities compared with controls. However, these abnormalities were confined only to those patients with associated rapid eye movement sleep behavior; those without were not different than controls. As with other clinical autonomic variables, cardiac autonomic denervation is predominantly associated not with Parkinson's disease itself, but with the presence of rapid eye movement sleep behavior disorder. Copyright © 2011 Movement Disorder Society.

Parameterization of Movement Execution in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Van Waelvelde, Hilde; De Weerdt, Willy; De Cock, Paul; Janssens, Luc; Feys, Hilde; Engelsman, Bouwien C. M. Smits

2006-01-01

The Rhythmic Movement Test (RMT) evaluates temporal and amplitude parameterization and fluency of movement execution in a series of rhythmic arm movements under different sensory conditions. The RMT was used in combination with a jumping and a drawing task, to evaluate 36 children with Developmental Coordination Disorder (DCD) and a matched…

Mozart's movements and behaviour: a case of Tourette's syndrome?

PubMed

Ashoori, Aidin; Jankovic, Joseph

2007-11-01

In this review, we intend to explore the often asked question: "Did Mozart have Tourette's syndrome?" Although there are numerous reports attributing Mozart's peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette's syndrome, autistic disorder, Asperger's syndrome, attention deficit hyperactivity disorder, obsessive-compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart's behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure.

Mozart's movements and behaviour: a case of Tourette's syndrome?

PubMed

Ashoori, A; Jankovic, J

2008-06-01

In this review, we intend to explore the often asked question: "Did Mozart have Tourette's syndrome?" Although there are numerous reports attributing Mozart's peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette's syndrome, autistic disorder, Asperger's syndrome, attention deficit hyperactivity disorder, obsessive-compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart's behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure.

Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.

PubMed

Steinlechner, Susanne; Hagenah, Johann; Rumpf, Hans-Jürgen; Meyer, Christian; John, Ulrich; Bäumer, Tobias; Brüggemann, Norbert; Kasten, Meike; Münchau, Alexander; Klein, Christine; Lencer, Rebekka

2017-06-01

Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075). Our results indicate an odds ratio (OR) of 2.6 [confidence interval (CI) 1.7-4.0] for general axis I disorders in IFD, an OR of 2.5 (CI 1.4-4.7) in monogenic PD, and an OR of 1.4 (CI 0.8-2.6) in idiopathic PD. More specifically, the monogenic PD group showed the highest ORs for affective disorders including depression (OR = 4.9), bipolar disorder (OR = 17.4), and hypomanic episodes (OR = 17.0), whereas IFD expressed the highest rates of anxiety disorders (OR = 3.3). Psychotic symptoms were only observed in the PD groups but not in IFD. Our findings underline the notion that psychiatric disorders are part of the phenotypic spectrum of movement disorders. Moreover, they suggest that IFD, monogenic PD, and idiopathic PD are associated with specific psychiatric disorders indicating disturbances in a different neural circuitry for sensorimotor control.

Sex differences in objective measures of sleep in post-traumatic stress disorder and healthy control subjects.

PubMed

Richards, Anne; Metzler, Thomas J; Ruoff, Leslie M; Inslicht, Sabra S; Rao, Madhu; Talbot, Lisa S; Neylan, Thomas C

2013-12-01

A growing literature shows prominent sex effects for risk for post-traumatic stress disorder and associated medical comorbid burden. Previous research indicates that post-traumatic stress disorder is associated with reduced slow wave sleep, which may have implications for overall health, and abnormalities in rapid eye movement sleep, which have been implicated in specific post-traumatic stress disorder symptoms, but most research has been conducted in male subjects. We therefore sought to compare objective measures of sleep in male and female post-traumatic stress disorder subjects with age- and sex-matched control subjects. We used a cross-sectional, 2 × 2 design (post-traumatic stress disorder/control × female/male) involving83 medically healthy, non-medicated adults aged 19-39 years in the inpatient sleep laboratory. Visual electroencephalographic analysis demonstrated that post-traumatic stress disorder was associated with lower slow wave sleep duration (F(3,82)  = 7.63, P = 0.007) and slow wave sleep percentage (F(3,82)  = 6.11, P = 0.016). There was also a group × sex interaction effect for rapid eye movement sleep duration (F(3,82)  = 4.08, P = 0.047) and rapid eye movement sleep percentage (F(3,82)  = 4.30, P = 0.041), explained by greater rapid eye movement sleep in post-traumatic stress disorder females compared to control females, a difference not seen in male subjects. Quantitative electroencephalography analysis demonstrated that post-traumatic stress disorder was associated with lower energy in the delta spectrum (F(3,82)  = 6.79, P = 0.011) in non-rapid eye movement sleep. Slow wave sleep and delta findings were more pronounced in males. Removal of post-traumatic stress disorder subjects with comorbid major depressive disorder, who had greater post-traumatic stress disorder severity, strengthened delta effects but reduced rapid eye movement effects to non-significance. These findings support previous evidence that post-traumatic stress disorder is associated with impairment in the homeostatic function of sleep, especially in men with the disorder. These findings suggest that group × sex interaction effects on rapid eye movement may occur with more severe post-traumatic stress disorder or with post-traumatic stress disorder comorbid with major depressive disorder. © 2013 European Sleep Research Society.

Impairment in Movement Skills of Children with Autistic Spectrum Disorders

ERIC Educational Resources Information Center

Green, Dido; Charman, Tony; Pickles, Andrew; Chandler, Susie; Loucas, Tom; Simonoff, Emily; Baird, Gillian

2009-01-01

Aim: We undertook this study to explore the degree of impairment in movement skills in children with autistic spectrum disorders (ASD) and a wide IQ range. Method: Movement skills were measured using the Movement Assessment Battery for Children (M-ABC) in a large, well defined, population-derived group of children (n=101: 89 males,12 females; mean…

Associations of sleep disturbance with ADHD: implications for treatment.

PubMed

Hvolby, Allan

2015-03-01

Attention-deficit/hyperactivity disorder (ADHD) is commonly associated with disordered or disturbed sleep. The relationships of ADHD with sleep problems, psychiatric comorbidities and medications are complex and multidirectional. Evidence from published studies comparing sleep in individuals with ADHD with typically developing controls is most concordant for associations of ADHD with: hypopnea/apnea and peripheral limb movements in sleep or nocturnal motricity in polysomnographic studies; increased sleep onset latency and shorter sleep time in actigraphic studies; and bedtime resistance, difficulty with morning awakenings, sleep onset difficulties, sleep-disordered breathing, night awakenings and daytime sleepiness in subjective studies. ADHD is also frequently coincident with sleep disorders (obstructive sleep apnea, peripheral limb movement disorder, restless legs syndrome and circadian-rhythm sleep disorders). Psychostimulant medications are associated with disrupted or disturbed sleep, but also 'paradoxically' calm some patients with ADHD for sleep by alleviating their symptoms. Long-acting formulations may have insufficient duration of action, leading to symptom rebound at bedtime. Current guidelines recommend assessment of sleep disturbance during evaluation of ADHD, and before initiation of pharmacotherapy, with healthy sleep practices the first-line option for addressing sleep problems. This review aims to provide a comprehensive overview of the relationships between ADHD and sleep, and presents a conceptual model of the modes of interaction: ADHD may cause sleep problems as an intrinsic feature of the disorder; sleep problems may cause or mimic ADHD; ADHD and sleep problems may interact, with reciprocal causation and possible involvement of comorbidity; and ADHD and sleep problems may share a common underlying neurological etiology.

Environmental Inventory and Analysis for Pine Bluff, Arkansas. Volume I. Pine Bluff Metropolitan Area, Arkansas Urban Water Management Study.

DTIC Science & Technology

1975-10-03

surface water systems include bacteria which cause typhoid fever, gastro- intestinal disorders, diarrheal diseases, nausea, dehydration , and kidney...industrial activity, although natural seepage, runoff from residential areas and decomposition of aquatic organisms may also be contributors. Waters with...Study Area. The movement of pesticides, however, is complex and dependent upon biological and photo-degradation, chemical oxidation and hydrolysis

Lower limb motor restlessness in Asperger's disorder, measured using actometry.

PubMed

Tuisku, Katinka; Tani, Pekka; Nieminen-von Wendt, Taina; von Wendt, Lennart; Holi, Matti Mikael; Porkka-Heiskanen, Tarja; Lauerma, Hannu; Lindberg, Nina; Appelberg, Björn; Wahlbeck, Kristian

2004-08-30

The movement disturbances and brain imaging findings in Asperger's disorder (AD) suggest a dopaminergic deficit in movement regulation. Movement disorders of different etiologies have been quantified and specified with actometry. We compared 10 AD patients with 10 healthy controls, measuring their rest-activities by actometry. The lower limb motor activity was significantly higher in the AD group. They also displayed a rhythmic, periodic movement pattern similar to akathisia. These findings suggest a hypothesis of idiopathic akathisia and a special sensitivity to adverse effects of neuroleptic drugs.

Clinical assessment of adventitious movements.

PubMed

Brasić, J R; Barnett, J Y; Sheitman, B B; Lafargue, R T; Ahn, S C

1998-12-01

Many procedures with variable validity and reliability have been developed in research settings to evaluate adventitious movements and related phenomena in specific populations, e.g., people with schizophrenia treated with dopamine antagonists, but these only provide global assessments or rate specific movements. A battery for rating individuals with possible movements disorders in a comprehensive way in clinical settings is needed so a protocol to assess briefly and thoroughly potential movement disorders was videotaped for five prepubertal boys with autistic disorder and severe mental retardation in a clinical trial. Utilizing a Movement Assessment Battery, four raters independently scored videotapes of 10-16 movements assessments of each of the five subjects. Experienced raters attained agreement of 59% to 100% on ratings of tardive dyskinesia and 48% to 100% on tics. Hindrances to reliability included poor quality of some tapes, high activity of subjects, and fatigue of raters.

[Wernicke-Korsakoff syndrome].

PubMed

Kotov, S V; Lobakov, A I; Isakova, E V; Stashuk, G A; Volchenkova, T V

To study the diagnosis and treatment of non-alcoholic Wernicke-Korsakoff syndrome (WKS). Eight patients (5 men and 3 women), mean age 38,9±1,4 years, with WKS developed due to acute gastrointestinal tract (GIT) disease (3 patients), the exacerbation of chronic GIT disease with malabsorption (2 patients) and after surgery on the upper GIT (3 patients) were included in the study. The disease manifested with consciousness disturbance, symptoms of ataxia, eye movement disorders and bulbar syndrome that developed after 24-48 h. Treatment resistant tonic-clonic seizures were developed in 1 patient. MRI revealed hyper intensive signals on T2-weighted images in the hypothalamus, mamillar bodies, brain stem, hippocampus as well as contrast accumulation in the mamillar bodies. Treatment with vitamin B complex (neurobion) and thiamine exerted a positive effect. Patients with GIT disease with malabsorption are at risk of WKS. Consciousness disturbance, symptoms of ataxia, eye movement disorders indicate the necessity of treatment with thiamine that allows to prevent the development of stable cognitive deficit.

Movement and Other Neurodegenerative Syndromes in Patients with Systemic Rheumatic Diseases

PubMed Central

Menezes, Rikitha; Pantelyat, Alexander; Izbudak, Izlem; Birnbaum, Julius

2015-01-01

Abstract Patients with rheumatic diseases can present with movement and other neurodegenerative disorders. It may be underappreciated that movement and other neurodegenerative disorders can encompass a wide variety of disease entities. Such disorders are strikingly heterogeneous and lead to a wider spectrum of clinical injury than seen in Parkinson's disease. Therefore, we sought to stringently phenotype movement and other neurodegenerative disorders presenting in a case series of rheumatic disease patients. We integrated our findings with a review of the literature to understand mechanisms which may account for such a ubiquitous pattern of clinical injury. Seven rheumatic disease patients (5 Sjögren's syndrome patients, 2 undifferentiated connective tissue disease patients) were referred and could be misdiagnosed as having Parkinson's disease. However, all of these patients were ultimately diagnosed as having other movement or neurodegenerative disorders. Findings inconsistent with and more expansive than Parkinson's disease included cerebellar degeneration, dystonia with an alien-limb phenomenon, and nonfluent aphasias. A notable finding was that individual patients could be affected by cooccurring movement and other neurodegenerative disorders, each of which could be exceptionally rare (ie, prevalence of ∼1:1000), and therefore with the collective probability that such disorders were merely coincidental and causally unrelated being as low as ∼1-per-billion. Whereas our review of the literature revealed that ubiquitous patterns of clinical injury were frequently associated with magnetic resonance imaging (MRI) findings suggestive of a widespread vasculopathy, our patients did not have such neuroimaging findings. Instead, our patients could have syndromes which phenotypically resembled paraneoplastic and other inflammatory disorders which are known to be associated with antineuronal antibodies. We similarly identified immune-mediated and inflammatory markers of injury in a psoriatic arthritis patient who developed an amyotrophic lateral sclerosis (ALS)-plus syndrome after tumor necrosis factor (TNF)-inhibitor therapy. We have described a diverse spectrum of movement and other neurodegenerative disorders in our rheumatic disease patients. The widespread pattern of clinical injury, the propensity of our patients to present with co-occurring movement disorders, and the lack of MRI neuroimaging findings suggestive of a vasculopathy collectively suggest unique patterns of immune-mediated injury. PMID:26252269

Movement and Other Neurodegenerative Syndromes in Patients with Systemic Rheumatic Diseases: A Case Series of 8 Patients and Review of the Literature.

PubMed

Menezes, Rikitha; Pantelyat, Alexander; Izbudak, Izlem; Birnbaum, Julius

2015-08-01

Patients with rheumatic diseases can present with movement and other neurodegenerative disorders. It may be underappreciated that movement and other neurodegenerative disorders can encompass a wide variety of disease entities. Such disorders are strikingly heterogeneous and lead to a wider spectrum of clinical injury than seen in Parkinson's disease. Therefore, we sought to stringently phenotype movement and other neurodegenerative disorders presenting in a case series of rheumatic disease patients. We integrated our findings with a review of the literature to understand mechanisms which may account for such a ubiquitous pattern of clinical injury.Seven rheumatic disease patients (5 Sjögren's syndrome patients, 2 undifferentiated connective tissue disease patients) were referred and could be misdiagnosed as having Parkinson's disease. However, all of these patients were ultimately diagnosed as having other movement or neurodegenerative disorders. Findings inconsistent with and more expansive than Parkinson's disease included cerebellar degeneration, dystonia with an alien-limb phenomenon, and nonfluent aphasias.A notable finding was that individual patients could be affected by cooccurring movement and other neurodegenerative disorders, each of which could be exceptionally rare (ie, prevalence of ∼1:1000), and therefore with the collective probability that such disorders were merely coincidental and causally unrelated being as low as ∼1-per-billion. Whereas our review of the literature revealed that ubiquitous patterns of clinical injury were frequently associated with magnetic resonance imaging (MRI) findings suggestive of a widespread vasculopathy, our patients did not have such neuroimaging findings. Instead, our patients could have syndromes which phenotypically resembled paraneoplastic and other inflammatory disorders which are known to be associated with antineuronal antibodies. We similarly identified immune-mediated and inflammatory markers of injury in a psoriatic arthritis patient who developed an amyotrophic lateral sclerosis (ALS)-plus syndrome after tumor necrosis factor (TNF)-inhibitor therapy.We have described a diverse spectrum of movement and other neurodegenerative disorders in our rheumatic disease patients. The widespread pattern of clinical injury, the propensity of our patients to present with co-occurring movement disorders, and the lack of MRI neuroimaging findings suggestive of a vasculopathy collectively suggest unique patterns of immune-mediated injury.

Disrupted rapid eye movement sleep predicts poor declarative memory performance in post-traumatic stress disorder.

PubMed

Lipinska, Malgorzata; Timol, Ridwana; Kaminer, Debra; Thomas, Kevin G F

2014-06-01

Successful memory consolidation during sleep depends on healthy slow-wave and rapid eye movement sleep, and on successful transition across sleep stages. In post-traumatic stress disorder, sleep is disrupted and memory is impaired, but relations between these two variables in the psychiatric condition remain unexplored. We examined whether disrupted sleep, and consequent disrupted memory consolidation, is a mechanism underlying declarative memory deficits in post-traumatic stress disorder. We recruited three matched groups of participants: post-traumatic stress disorder (n = 16); trauma-exposed non-post-traumatic stress disorder (n = 15); and healthy control (n = 14). They completed memory tasks before and after 8 h of sleep. We measured sleep variables using sleep-adapted electroencephalography. Post-traumatic stress disorder-diagnosed participants experienced significantly less sleep efficiency and rapid eye movement sleep percentage, and experienced more awakenings and wake percentage in the second half of the night than did participants in the other two groups. After sleep, post-traumatic stress disorder-diagnosed participants retained significantly less information on a declarative memory task than controls. Rapid eye movement percentage, wake percentage and sleep efficiency correlated with retention of information over the night. Furthermore, lower rapid eye movement percentage predicted poorer retention in post-traumatic stress disorder-diagnosed individuals. Our results suggest that declarative memory consolidation is disrupted during sleep in post-traumatic stress disorder. These data are consistent with theories suggesting that sleep benefits memory consolidation via predictable neurobiological mechanisms, and that rapid eye movement disruption is more than a symptom of post-traumatic stress disorder. © 2014 European Sleep Research Society.

[Motor disorders in neurodevelopmental disorders. Tics and stereotypies].

PubMed

Eirís-Puñal, Jesús

2014-02-24

Tics are repetitive, sharp, rapid, non-rhythmic movements or utterances that are the result of sudden, abrupt and involuntary muscular contractions. Stereotypies are repetitive, apparently impulsive, rhythmic, purposeless movements that follow an individual repertoire that is specific to each individual and that occur under a variable time pattern, which may be either transient or persistent. Both are included in the Diagnostic and statistical manual of mental disorders, fifth edition (DSM-5), among the neurodevelopmental disorders, and together with coordination development disorder go to make up the group of motor disorders. For tics, the categories of 'Tourette's disorder', 'chronic motor or vocal tic disorder' and 'unspecified tic disorder' have been maintained, whereas the category 'transient tics' has disappeared and 'provisional tic disorder' and 'other specified tic disorders' have been incorporated. Within stereotypic movement disorder, the DSM-5 replaces 'non-functional' by 'apparently purposeless'; the thresholds of the need for medical care are withdrawn and replaced with the manual's standard involvement criterion; mental retardation is no longer mentioned and emphasis is placed on the severity of the stereotypic movement; and a criterion concerning the onset of symptoms and specifiers of the existence or not of self-injurious behaviours have been added, together with the association with genetic or general medical diseases or extrinsic factors. Moreover, a categorisation depending on severity has also been included.

Hyperkinetic movement disorder in a child treated by globus pallidus stimulation.

PubMed

Sato, Ken; Nakagawa, Eiji; Saito, Yoshiaki; Komaki, Hirofumi; Sakuma, Hiroshi; Sugai, Kenji; Sasaki, Masayuki; Kaido, Takanobu; Nakama, Hideyuki; Otsuki, Taisuke

2009-06-01

We report herein the case of a 9-year-old girl with life-threatening hyperkinetic involuntary movement of unknown etiology. Medical treatment was ineffective for her stereotypy and choreoathetotic/ballistic movements, but bilateral stimulation of the globus pallidus immediately alleviated these symptoms. Pallidal deep-brain stimulation may be considered the therapy of choice for children with intractable hyperkinetic movement disorders.

Eye Movement Indices in the Study of Depressive Disorder

PubMed Central

LI, Yu; XU, Yangyang; XIA, Mengqing; ZHANG, Tianhong; WANG, Junjie; LIU, Xu; HE, Yongguang; WANG, Jijun

2016-01-01

Background Impaired cognition is one of the most common core symptoms of depressive disorder. Eye movement testing mainly reflects patients’ cognitive functions, such as cognition, memory, attention, recognition, and recall. This type of testing has great potential to improve theories related to cognitive functioning in depressive episodes as well as potential in its clinical application. Aims This study investigated whether eye movement indices of patients with unmedicated depressive disorder were abnormal or not, as well as the relationship between these indices and mental symptoms. Methods Sixty patients with depressive disorder and sixty healthy controls (who were matched by gender, age and years of education) were recruited, and completed eye movement tests including three tasks: fixation task, saccade task and free-view task. The EyeLink desktop eye tracking system was employed to collect eye movement information, and analyze the eye movement indices of the three tasks between the two groups. Results (1) In the fixation task, compared to healthy controls, patients with depressive disorder showed more fixations, shorter fixation durations, more saccades and longer saccadic lengths; (2) In the saccade task, patients with depressive disorder showed longer anti-saccade latencies and smaller anti-saccade peak velocities; (3) In the free-view task, patients with depressive disorder showed fewer saccades and longer mean fixation durations; (4) Correlation analysis showed that there was a negative correlation between the pro-saccade amplitude and anxiety symptoms, and a positive correlation between the anti-saccade latency and anxiety symptoms. The depression symptoms were negatively correlated with fixation times, saccades, and saccadic paths respectively in the free-view task; while the mean fixation duration and depression symptoms showed a positive correlation. Conclusion Compared to healthy controls, patients with depressive disorder showed significantly abnormal eye movement indices. In addition patients’ anxiety and depression symptoms and eye movement indices were correlated. The pathological meaning of these phenomena deserve further exploration. PMID:28638208

Eye Movement Indices in the Study of Depressive Disorder.

PubMed

Li, Yu; Xu, Yangyang; Xia, Mengqing; Zhang, Tianhong; Wang, Junjie; Liu, Xu; He, Yongguang; Wang, Jijun

2016-12-25

Impaired cognition is one of the most common core symptoms of depressive disorder. Eye movement testing mainly reflects patients' cognitive functions, such as cognition, memory, attention, recognition, and recall. This type of testing has great potential to improve theories related to cognitive functioning in depressive episodes as well as potential in its clinical application. This study investigated whether eye movement indices of patients with unmedicated depressive disorder were abnormal or not, as well as the relationship between these indices and mental symptoms. Sixty patients with depressive disorder and sixty healthy controls (who were matched by gender, age and years of education) were recruited, and completed eye movement tests including three tasks: fixation task, saccade task and free-view task. The EyeLink desktop eye tracking system was employed to collect eye movement information, and analyze the eye movement indices of the three tasks between the two groups. (1) In the fixation task, compared to healthy controls, patients with depressive disorder showed more fixations, shorter fixation durations, more saccades and longer saccadic lengths; (2) In the saccade task, patients with depressive disorder showed longer anti-saccade latencies and smaller anti-saccade peak velocities; (3) In the free-view task, patients with depressive disorder showed fewer saccades and longer mean fixation durations; (4) Correlation analysis showed that there was a negative correlation between the pro-saccade amplitude and anxiety symptoms, and a positive correlation between the anti-saccade latency and anxiety symptoms. The depression symptoms were negatively correlated with fixation times, saccades, and saccadic paths respectively in the free-view task; while the mean fixation duration and depression symptoms showed a positive correlation. Compared to healthy controls, patients with depressive disorder showed significantly abnormal eye movement indices. In addition patients' anxiety and depression symptoms and eye movement indices were correlated. The pathological meaning of these phenomena deserve further exploration.

Rats' learning of a new motor skill: insight into the evolution of motor sequence learning.

PubMed

Hermer-Vazquez, Linda; Moshtagh, Nasim

2009-05-01

Recent behavioral and neural evidence has suggested that ethologically relevant sub-movements (movement primitives) are used by primates for more complex motor skill learning. These primitives include extending the hand, grasping an object, and holding food while moving it toward the mouth. In prior experiments with rats performing a reach-to-grasp-food task, we observed that especially during early task learning, rats appeared to have movement primitives similar to those seen in primates. Unlike primates, however, during task learning the rats performed these sub-movements in a disordered manner not seen in humans or macaques, e.g. with the rat chewing before placing the food pellet in its mouth. Here, in two experiments, we tested the hypothesis that for rats, learning this ecologically relevant skill involved learning to concatenate the sub-movements in the correct order. The results confirmed our initial observations, and suggested that several aspects of forepaw/hand use, taken for granted in primate studies, must be learned by rats to perform a logically connected and seemingly ecologically important series of sub-movements. We discuss our results from a comparative and evolutionary perspective.

Movement behaviour of patients with eating disorders and inflammatory bowel disease: a controlled study.

PubMed

Lausberg, H; von Wietersheim, J; Feiereis, H

1996-01-01

This study assessed the movement behaviour of patients with eating disorders and inflammatory bowel disease. Ninety female patients with anorexia nervosa (n = 30), bulimia nervosa (n = 30), inflammatory bowel disease (n = 30) and a healthy control group (n = 30) were videotaped during a 10-min standardised movement sequence. A movement analysis instrument was developed for the evaluation. The patient groups had a significantly smaller area of movement, less weight shift, more isolated use of their body parts, less integration of the lower body, more peripheral initiation of movement, less strength. No significant differences could be found among the patient groups with eating disorders and inflammatory bowel disease. The findings are discussed in relation to body scheme disturbances and inhibition of nonverbal expression.

Effects of diphenhydramine on human eye movements.

PubMed

Hopfenbeck, J R; Cowley, D S; Radant, A; Greenblatt, D J; Roy-Byrne, P P

1995-04-01

Peak saccadic eye movement velocity (SEV) and average smooth pursuit gain (SP) are reduced in a dose-dependent manner by diazepam and provide reliable, quantitative measures of benzodiazepine agonist effects. To evaluate the specificity of these eye movement effects for agents acting at the central GABA-benzodiazepine receptor complex and the role of sedation in benzodiazepine effects, we studied eye movement effects of diphenhydramine, a sedating drug which does not act at the GABA-benzodiazepine receptor complex. Ten healthy males, aged 19-28 years, with no history of axis I psychiatric disorders or substance abuse, received 50 mg/70 kg intravenous diphenhydramine or a similar volume of saline on separate days 1 week apart. SEV, saccade latency and accuracy, SP, self-rated sedation, and short-term memory were assessed at baseline and at 5, 15, 30, 45, 60, 90 and 120 min after drug administration. Compared with placebo, diphenhydramine produced significant SEV slowing, and increases in saccade latency and self-rated sedation. There was no significant effect of diphenhydramine on smooth pursuit gain, saccade accuracy, or short-term memory. These results suggest that, like diazepam, diphenhydramine causes sedation, SEV slowing, and an increase in saccade latency. Since the degree of diphenhydramine-induced sedation was not correlated with changes in SEV or saccade latency, slowing of saccadic eye movements is unlikely to be attributable to sedation alone. Unlike diazepam, diphenhydramine does not impair smooth pursuit gain, saccadic accuracy, or memory. Different neurotransmitter systems may influence the neural pathways involved in SEV and smooth pursuit again.

From degeneration to genetic susceptibility, from eugenics to genethics, from Bezugsziffer to LOD score: the history of psychiatric genetics.

PubMed

Schulze, Thomas G; Fangerau, Heiner; Propping, Peter

2004-11-01

Reviewing the history of psychiatric genetics is a difficult task, since--in contrast to genetic research into most other disorders--it cannot simply be done by chronologically listing methodological achievements and major findings. Instead, it necessitates a comprehensive assessment of how the aetiological concept of mental disorders has developed since as early as the world of ancient Greece. Furthermore, it has to touch upon the sensitive issue of the eugenic movement that was closely linked to the study of heredity in mental disorders in the first half of the 20th century and, in Nazi Germany, led to the systematic mass murder of psychiatric patients. Finally, reviewing the scientific dimensions, history of psychiatric genetics is at the same time a walk through the history of complex genetics in general. In our review, we try to pay tribute to this complexity. We argue that psychiatric genetics has not only propelled our understanding of mental disorders but has significantly benefited genetic research into other complex disorders through the development of methodologically robust approaches (e.g., systematic phenotype characterisation, methods to control for ascertainment biases, age-correction). Given the recent reasons for new optimism, i.e., the identification of susceptibility genes for psychiatric phenotypes, a continued methodologically sound approach is needed more than ever to guarantee robust results. Finally, psychiatric genetic research should never again be performed in an environment void of ethical standards.

Systematic review of autosomal recessive ataxias and proposal for a classification.

PubMed

Beaudin, Marie; Klein, Christopher J; Rouleau, Guy A; Dupré, Nicolas

2017-01-01

The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing. We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified. Reference lists and public databases, including OMIM and GeneReviews, were also reviewed. We evaluated the clinical descriptions to determine if ataxia was a core feature of the phenotype and assessed the available evidence on the genotype-phenotype association. Included disorders were classified as primary recessive ataxias, as other complex movement or multisystem disorders with prominent ataxia, or as disorders that may occasionally present with ataxia. After removal of duplicates, 2354 references were reviewed and assessed for inclusion. A total of 130 articles were completely reviewed and included in this qualitative analysis. The proposed new list of autosomal recessive ataxias includes 45 gene-defined disorders for which ataxia is a core presenting feature. We propose a clinical algorithm based on the associated symptoms. We present a new classification for autosomal recessive ataxias that brings awareness to their complex phenotypes while providing a unified categorization of this group of disorders. This review should assist in the development of a consensus nomenclature useful in both clinical and research applications.

Trichotillomania, stereotypic movement disorder, and related disorders.

PubMed

Stein, Dan J; Garner, Joseph P; Keuthen, Nancy J; Franklin, Martin E; Walkup, John T; Woods, Douglas W

2007-08-01

Trichotillomania is currently classified as an impulse control disorder not otherwise classified, whereas body-focused behaviors other than hair-pulling may be diagnosed as stereotypic movement disorder. A number of disorders characterized by repetitive, body-focused behaviors (eg, skin-picking) are prevalent and disabling and may have phenomenological and psychobiological overlap. Such disorders deserve greater recognition in the official nosology, and there would seem to be clinical utility in classifying them in the same diagnostic category.

Consistent abnormalities in metabolic network activity in idiopathic rapid eye movement sleep behaviour disorder.

PubMed

Wu, Ping; Yu, Huan; Peng, Shichun; Dauvilliers, Yves; Wang, Jian; Ge, Jingjie; Zhang, Huiwei; Eidelberg, David; Ma, Yilong; Zuo, Chuantao

2014-12-01

Rapid eye movement sleep behaviour disorder has been evaluated using Parkinson's disease-related metabolic network. It is unknown whether this disorder is itself associated with a unique metabolic network. 18F-fluorodeoxyglucose positron emission tomography was performed in 21 patients (age 65.0±5.6 years) with idiopathic rapid eye movement sleep behaviour disorder and 21 age/gender-matched healthy control subjects (age 62.5±7.5 years) to identify a disease-related pattern and examine its evolution in 21 hemi-parkinsonian patients (age 62.6±5.0 years) and 16 moderate parkinsonian patients (age 56.9±12.2 years). We identified a rapid eye movement sleep behaviour disorder-related metabolic network characterized by increased activity in pons, thalamus, medial frontal and sensorimotor areas, hippocampus, supramarginal and inferior temporal gyri, and posterior cerebellum, with decreased activity in occipital and superior temporal regions. Compared to the healthy control subjects, network expressions were elevated (P<0.0001) in the patients with this disorder and in the parkinsonian cohorts but decreased with disease progression. Parkinson's disease-related network activity was also elevated (P<0.0001) in the patients with rapid eye movement sleep behaviour disorder but lower than in the hemi-parkinsonian cohort. Abnormal metabolic networks may provide markers of idiopathic rapid eye movement sleep behaviour disorder to identify those at higher risk to develop neurodegenerative parkinsonism. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology

PubMed Central

Balint, Bettina; Vincent, Angela; Meinck, Hans-Michael; Irani, Sarosh R; Bhatia, Kailash P

2018-01-01

Abstract Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies. There are also less-recognized movement disorder presentations of antibody-related disease, and a considerable overlap between the clinical phenotypes and the associated antibody spectra. In this review, we first describe the antibodies associated with each syndrome, highlight distinctive clinical or radiological ‘red flags’, and suggest a syndromic approach based on the predominant movement disorder presentation, age, and associated features. We then examine the underlying immunopathophysiology, which may guide treatment decisions in these neuroimmunological disorders, and highlight the exceptional interface between neuronal antibodies and neurodegeneration, such as the tauopathy associated with IgLON5 antibodies. Moreover, we elaborate the emerging pathophysiological parallels between genetic movement disorders and immunological conditions, with proteins being either affected by mutations or targeted by autoantibodies. Hereditary hyperekplexia, for example, is caused by mutations of the alpha subunit of the glycine receptor leading to an infantile-onset disorder with exaggerated startle and stiffness, whereas antibodies targeting glycine receptors can induce acquired hyperekplexia. The spectrum of such immunological and genetic analogies also includes cerebellar ataxias and some encephalopathies. Lastly, we discuss how these pathophysiological considerations could reflect on possible future directions regarding antigen-specific immunotherapies or targeting the pathophysiological cascades downstream of the antibody effects. PMID:29053777

Quality of life in patients with an idiopathic rapid eye movement sleep behaviour disorder in Korea.

PubMed

Kim, Keun Tae; Motamedi, Gholam K; Cho, Yong Won

2017-08-01

There have been few quality of life studies in patients with idiopathic rapid eye movement sleep behaviour disorder. We compared the quality of life in idiopathic rapid eye movement sleep behaviour disorder patients to healthy controls, patients with hypertension, type 2 diabetes mellitus without complication and idiopathic restless legs syndrome. Sixty patients with idiopathic rapid eye movement sleep behaviour disorder (24 female; mean age: 61.43 ± 8.99) were enrolled retrospectively. The diagnosis was established based on sleep history, overnight polysomnography, neurological examination and Mini-Mental State Examination to exclude secondary rapid eye movement sleep behavior disorder. All subjects completed questionnaires, including the Short Form 36-item Health Survey for quality of life. The total quality of life score in idiopathic rapid eye movement sleep behaviour disorder (70.63 ± 20.83) was lower than in the healthy control group (83.38 ± 7.96) but higher than in the hypertension (60.55 ± 24.82), diabetes mellitus (62.42 ± 19.37) and restless legs syndrome (61.77 ± 19.25) groups. The total score of idiopathic rapid eye movement sleep behaviour disorder patients had a negative correlation with the Pittsburg Sleep Quality Index (r = -0.498, P < 0.001), Insomnia Severity Index (r = -0.645, P < 0.001) and the Beck Depression Inventory-2 (r = -0.694, P < 0.001). Multiple regression showed a negative correlation between the Short Form 36-item Health Survey score and the Insomnia Severity Index (β = -1.100, P = 0.001) and Beck Depression Inventory-2 (β = -1.038, P < 0.001). idiopathic rapid eye movement sleep behaviour disorder had a significant negative impact on quality of life, although this effect was less than that of other chronic disorders. This negative effect might be related to a depressive mood associated with the disease. © 2016 European Sleep Research Society.

Oral splint for temporomandibular joint disorders with revolutionary fluid system

PubMed Central

Srivastava, Rahul; Jyoti, Bhuvan; Devi, Parvathi

2013-01-01

Temporomandibular joint (TMJ) diseases and disorders refer to a complex and poorly understood set of conditions, manifested by pain in the area of the jaw and associated muscles and limitations in the ability to make the normal movements of speech, facial expression, eating, chewing, and swallowing. The conventional soft occlusal splint therapy is a much safer and effective mode of a conservative line of therapy in comparison to the surgical therapy for temporomandibular joint disorders (TMD). The purpose of this article is to review the Aqualizer™, an hydrostatic oral splint, as accurate, effective treatment and differential diagnostic tool in TMD that allow treating the patient's pain quickly and accurately saving valuable treatment time. The review article has been prepared doing a literature review from the world-wide web and pubmed/medline. PMID:24019797

[The importance of movement-directed interventions in the multidisciplinary treatment of binge eating disorder: an overview].

PubMed

Vancampfort, D; Vanderlinden, J; Pieters, G; De Herdt, A; Schueremans, A; Adriaens, A; Van Der Borght, W; De Hert, M; Probst, M

2012-01-01

More than three out of four persons with binge eating disorder do not get enough physical exercise. To collect scientific evidence of the effects and benefits that movement and physical exercise can have on persons with a binge eating disorder. PubMed, PsychInfo, Cumulative Index to Nursing and Allied Health Literature, Cochrane Library, Physiotherapy Evidence Database, the Dutch Journal of Psychiatry (Tijdschrift voor Psychiatrie), het Tijdschrift voor Vaktherapie and Actual Themata derived from psychomotor therapy were screened for the period January 1994 to August 2011. The methodological quality of the studies was determined on the basis of a checklist. Evidence for the effectiveness of the interventions was summarised by best-evidence synthesis. Eight studies met the inclusion and exclusion criteria. Strong evidence was found for: 1) significant weight-loss after movement interventions; 2) fewer symptoms of depression after a combination of both movement and cognitive behavioural therapy (CBT) than after CBT on its own. There was only limited evidence for 1) the fact that the combination of movement and CBT leads to less eating disorder pathology than does CBT alone; 2) the beneficial effects of yoga on weight-loss as well as on the reduction of eating disorder pathology.There are indications that walking can be helpful in reducing of eating disorder pathology. Activities involving movement and physical exercise deserve to play an important role in the multidisciplinary treatment of binge eating disorders.

Closed-loop brain-machine-body interfaces for noninvasive rehabilitation of movement disorders.

PubMed

Broccard, Frédéric D; Mullen, Tim; Chi, Yu Mike; Peterson, David; Iversen, John R; Arnold, Mike; Kreutz-Delgado, Kenneth; Jung, Tzyy-Ping; Makeig, Scott; Poizner, Howard; Sejnowski, Terrence; Cauwenberghs, Gert

2014-08-01

Traditional approaches for neurological rehabilitation of patients affected with movement disorders, such as Parkinson's disease (PD), dystonia, and essential tremor (ET) consist mainly of oral medication, physical therapy, and botulinum toxin injections. Recently, the more invasive method of deep brain stimulation (DBS) showed significant improvement of the physical symptoms associated with these disorders. In the past several years, the adoption of feedback control theory helped DBS protocols to take into account the progressive and dynamic nature of these neurological movement disorders that had largely been ignored so far. As a result, a more efficient and effective management of PD cardinal symptoms has emerged. In this paper, we review closed-loop systems for rehabilitation of movement disorders, focusing on PD, for which several invasive and noninvasive methods have been developed during the last decade, reducing the complications and side effects associated with traditional rehabilitation approaches and paving the way for tailored individual therapeutics. We then present a novel, transformative, noninvasive closed-loop framework based on force neurofeedback and discuss several future developments of closed-loop systems that might bring us closer to individualized solutions for neurological rehabilitation of movement disorders.

Closed-loop Brain-Machine-Body Interfaces for Noninvasive Rehabilitation of Movement Disorders

PubMed Central

Broccard, Frédéric D.; Mullen, Tim; Chi, Yu Mike; Peterson, David; Iversen, John R.; Arnold, Mike; Kreutz-Delgado, Kenneth; Jung, Tzyy-Ping; Makeig, Scott; Poizner, Howard; Sejnowski, Terrence; Cauwenberghs, Gert

2014-01-01

Traditional approaches for neurological rehabilitation of patients affected with movement disorders, such as Parkinson's disease (PD), dystonia, and essential tremor (ET) consist mainly of oral medication, physical therapy, and botulinum toxin injections. Recently, the more invasive method of deep brain stimulation (DBS) showed significant improvement of the physical symptoms associated with these disorders. In the past several years, the adoption of feedback control theory helped DBS protocols to take into account the progressive and dynamic nature of these neurological movement disorders that had largely been ignored so far. As a result, a more efficient and effective management of PD cardinal symptoms has emerged. In this paper, we review closed-loop systems for rehabilitation of movement disorders, focusing on PD, for which several invasive and noninvasive methods have been developed during the last decade, reducing the complications and side effects associated with traditional rehabilitation approaches and paving the way for tailored individual therapeutics. We then present a novel, transformative, noninvasive closed-loop framework based on force neurofeedback and discuss several future developments of closed-loop systems that might bring us closer to individualized solutions for neurological rehabilitation of movement disorders. PMID:24833254

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

PubMed

Martikainen, Mika H; Ng, Yi Shiau; Gorman, Gráinne S; Alston, Charlotte L; Blakely, Emma L; Schaefer, Andrew M; Chinnery, Patrick F; Burn, David J; Taylor, Robert W; McFarland, Robert; Turnbull, Doug M

2016-06-01

Extrapyramidal movement disorders associated with mitochondrial disease are difficult to treat and can lead to considerable disability. Moreover, potential new treatment trials on the horizon highlight the importance of genotype-phenotype associations and deep phenotyping of the movement disorders related to mitochondrial disease. To describe the phenotype, genetic etiology, and investigation of extrapyramidal movement disorders in a large and well-defined mitochondrial disease cohort. An observational cohort study at a single national referral center. Among 678 patients (87% adults) followed up at the Newcastle mitochondrial disease specialized referral center between January 1, 2000, and January 31, 2015, 42 patients (12 pediatric, 30 adult) with genetic or biochemical evidence of mitochondrial disease and with 1 or more predefined extrapyramidal movement disorders (parkinsonism, dystonia, tremor, chorea, and restless legs syndrome) were included. We investigated the prevalence and genetic causes of dystonia and parkinsonism as well as radiological findings in the context of movement disorders in mitochondrial disease. All patients were interviewed and examined. All available medical notes and clinical, radiological, and genetic investigations were reviewed. Forty-two patients (mean [SD] age, 37 [25] years; 38% female) with mitochondrial disease (12 pediatric [age range, 4-14 years], 30 adult [age range, 20-81 years]) with extrapyramidal movement disorders were identified. Dystonia manifested in 11 pediatric patients (92%), often in the context of Leigh syndrome; parkinsonism predominated in 13 adult patients (43%), among whom 5 (38%) harbored either dominant (n = 1) or recessive (n = 4) mutations in POLG. Eleven adult patients (37%) manifested with either generalized or multifocal dystonia related to mutations in mitochondrial DNA, among which the most common were the m.11778G>A mutation and mutations in MT-ATP6 (3 of 11 patients [27%] each). Bilateral basal ganglia lesions were the most common finding in brain magnetic resonance imaging, usually associated with generalized dystonia or Leigh syndrome. Dystonia, often associated with Leigh syndrome, was the most common extrapyramidal movement disorder among pediatric patients with mitochondrial disease. Parkinsonism was the most prevalent extrapyramidal movement disorder in adults and was commonly associated with POLG mutations; dystonia was predominantly associated with mitochondrial DNA mutations. These findings may help direct genetic screening in a busy neurology outpatient setting.

Hand stereotypies distinguish Rett syndrome from autism disorder.

PubMed

Goldman, Sylvie; Temudo, Teresa

2012-07-01

Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked. A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations. Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects. These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an option. Copyright © 2012 Movement Disorder Society.

Cortical visual dysfunction in children: a clinical study.

PubMed

Dutton, G; Ballantyne, J; Boyd, G; Bradnam, M; Day, R; McCulloch, D; Mackie, R; Phillips, S; Saunders, K

1996-01-01

Damage to the cerebral cortex was responsible for impairment in vision in 90 of 130 consecutive children referred to the Vision Assessment Clinic in Glasgow. Cortical blindness was seen in 16 children. Only 2 were mobile, but both showed evidence of navigational blind-sight. Cortical visual impairment, in which it was possible to estimate visual acuity but generalised severe brain damage precluded estimation of cognitive visual function, was observed in 9 children. Complex disorders of cognitive vision were seen in 20 children. These could be divided into five categories and involved impairment of: (1) recognition, (2) orientation, (3) depth perception, (4) perception of movement and (5) simultaneous perception. These disorders were observed in a variety of combinations. The remaining children showed evidence of reduced visual acuity and/ or visual field loss, but without detectable disorders of congnitive visual function. Early recognition of disorders of cognitive vision is required if active training and remediation are to be implemented.

A teaching videotape for the assessment of essential tremor.

PubMed

Louis, E D; Barnes, L; Wendt, K J; Ford, B; Sangiorgio, M; Tabbal, S; Lewis, L; Kaufmann, P; Moskowitz, C; Comella, C L; Goetz, C C; Lang, A E

2001-01-01

Teaching videotapes, developed to aid in the evaluation of several movement disorders, have not been used in essential tremor research. As part of the Washington Heights-Inwood Genetic Study of Essential Tremor (WHIGET), we developed a reliable and valid tremor rating scale. Because this rating scale is currently being used by investigators at other centers, we developed a teaching videotape to aid in the consistent application of this scale. To develop a teaching videotape for a revised version of the WHIGET Tremor Rating Scale and to assess the interrater agreement among raters who used this videotape to rate tremor. The revised WHIGET Tremor Rating Scale was used to rate action tremor from 0 to 4 during six tests: arm extension, pouring, drinking, using a spoon, finger-to-nose, and drawing spirals. A 22-minute teaching videotape was developed that includes a 29-item educational section and a self-assessment section consisting of 20 examples of tremor ratings chosen by the two WHIGET study neurologists. Eight raters, including senior movement disorder specialists, movement disorder fellows, general neurologists, and a movement disorder nurse practitioner, independently viewed the videotape and rated tremor during the self-assessment section. Interobserver reliability was assessed with weighted kappa statistics (kappa(w)). Eight raters each rated 20 items (160 ratings total). Total kappa(w) was 0.97 (nearly perfect agreement). Interrater reliability was as follows: kappa(w) = 0.99 (movement disorder specialists), kappa(w) = 0.98 (movement disorder fellows), and kappa(w) = 0.97 (general neurologists); all kappa(w) were nearly perfect. This teaching videotape may be used to improve the uniform application of the revised WHIGET Tremor Rating Scale by raters with various levels of experience in movement disorders.

Movement Disorders and Other Motor Abnormalities in Adults With 22q11.2 Deletion Syndrome

PubMed Central

Boot, Erik; Butcher, Nancy J; van Amelsvoort, Thérèse AMJ; Lang, Anthony E; Marras, Connie; Pondal, Margarita; Andrade, Danielle M; Fung, Wai Lun Alan; Bassett, Anne S

2015-01-01

Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice. PMID:25684639

Telemedicine Enables Broader Access to Movement Disorders Curricula for Medical Students.

PubMed

Cubo, Esther; Doumbe, Jacques; López, Emiliano; Lopez, Guadalupe A; Gatto, Emilia; Persi, Gabriel; Guttman, Mark

2017-01-01

The impact of tele-education for movement disorders on medical students is unknown. The present study had three objectives. First, to create a tele-education program for medical students in regions with limited access to movement disorders curricula. Second, to analyze the feasibility, satisfaction, and improvement of medical knowledge. Third, to assess the main reasons of medical students for attending this course. In 2016, a program was piloted in a low-middle income (Cameroon) and a middle-high income (Argentina) country. Medical students were offered a free movement disorder tele-education program (four medical schools in Argentina, and 1 medical school in Cameroon). Six real-time videoconferences covering hyperkinetic and hypokinetic movement disorders were included. Evaluations included attendance, pre- and post-medical knowledge, and satisfaction questionnaires. The study included 151 undergraduate medical students (79.4% from Argentina, 20.6% from Cameroon). Feasibility was acceptable with 100% and 85.7% of the videoconferences completed in Argentina and Cameroon, respectively. Attendance was higher in Argentina compared to Cameroon (75% vs. 33.1%). According to student reports, the topics and innovative educational environment were the main reasons for attendance. Both groups ranked satisfaction as moderate to high, and medical knowledge improved similarly in both countries. Tele-education can improve movement disorders knowledge in medical schools in high-middle and low-middle income countries lacking access to other educational opportunities.

Movement disorder symptoms associated with Unified ...

EPA Pesticide Factsheets

Objectives: The UPDRS is a commonly used neurological measurement to assess the presence and severity of parkinsonian symptoms. It has also been used to assess symptoms associated with Mn exposure. Objectives: to determine 1) if movement disorder symptoms were associated with UPDRS: Activities of Daily Living (ADL) and Motor abnormalities; and 2) which symptoms were most related to increased abnormalities on these UPDRS subscales. Participants & Methods: Correlations between self-reported movement disorder symptoms from a health questionnaire and scores obtained on UPDRS: ADL and Motor subscales, and the Bradykinesia domain of the Motor subscale, were assessed during a medical examination among 185 Mn-exposed participants from two Ohio towns. Partial correlations were used for statistical analyses, controlling for age, sex, education and a history of musculoskeletal disease.Results: The presence of movement disorder symptoms was positively associated with ADL (pr =0.647, p = <0.001), Motor (pr =0.449, p = <0.001), and Bradykinesia (pr =0.418, p = <0.001) domains on the UPDRS. Specific movement disorder symptoms most strongly associated with increased ADL and Motor scores included having difficulty getting out of chairs (pr =0.458, p = <0.001), writing (pr =0.481, p = <0.001), skilled movements (pr =0.478, p = <0.001), loss of coordination/balance (pr =0.457, p = <0.001), changes in walking (pr =0.412, p = <0.001) and slowness of movement (pr =0.539, p = <0.0

Rapid eye movement sleep behaviour disorder symptomatic of a brain stem cavernoma.

PubMed

Felix, Sandra; Thobois, Stephane; Peter-Derex, Laure

2016-04-01

A 75-year-old man complained of excessive daytime sleepiness (EDS), difficulty falling asleep and nocturnal agitation during sleep. Restless legs syndrome (RLS) was diagnosed and treated. Because of persistent EDS, snoring and nycturia, a nocturnal polysomnography (PSG) was performed. PSG showed high sleep fragmentation related to a moderate to severe obstructive sleep apnea syndrome. Continuous positive airway pressure treatment (CPAP) was proposed. Because of the persistence of abnormal nocturnal behaviours, characterized by screaming, punching and falling out of bed, a video-PSG with CPAP treatment was performed. The recording showed typical chin electromyography (EMG) activity increase associated with violent movements during rapid eye movement (REM) sleep, suggesting REM sleep behaviour disorders (RBD). Clinical neurological examination found no parkinsonian syndrome, no dysautonomic sign and no neurological focal sign. Dopamine transporter imaging [123I-FP-CIT single photon emission computed tomography (SPECT)] did not find any presynaptic dopaminergic pathways degeneration. Brain magnetic resonance imaging showed a vascular lesion suggestive of cavernoma located in the pons. The present case illustrates the complexity of sleep disturbance diagnosis with a possible entanglement of aetiologies responsible for nocturnal agitation, and confirms that an isolated pons cavernoma should be considered among the rare causes of RBD. © 2016 European Sleep Research Society.

Active prospective control is required for effective sensorimotor learning.

PubMed

Snapp-Childs, Winona; Casserly, Elizabeth; Mon-Williams, Mark; Bingham, Geoffrey P

2013-01-01

Passive modeling of movements is often used in movement therapy to overcome disabilities caused by stroke or other disorders (e.g. Developmental Coordination Disorder or Cerebral Palsy). Either a therapist or, recently, a specially designed robot moves or guides the limb passively through the movement to be trained. In contrast, action theory has long suggested that effective skill acquisition requires movements to be actively generated. Is this true? In view of the former, we explicitly tested the latter. Previously, a method was developed that allows children with Developmental Coordination Disorder to produce effective movements actively, so as to improve manual performance to match that of typically developing children. In the current study, we tested practice using such active movements as compared to practice using passive movement. The passive movement employed, namely haptic tracking, provided a strong test of the comparison, one that showed that the mere inaction of the muscles is not the problem. Instead, lack of prospective control was. The result was no effective learning with passive movement while active practice with prospective control yielded significant improvements in performance.

Nonspeech Oral Movements and Oral Motor Disorders: A Narrative Review.

PubMed

Kent, Ray D

2015-11-01

Speech and other oral functions such as swallowing have been compared and contrasted with oral behaviors variously labeled quasispeech, paraspeech, speechlike, and nonspeech, all of which overlap to some degree in neural control, muscles deployed, and movements performed. Efforts to understand the relationships among these behaviors are hindered by the lack of explicit and widely accepted definitions. This review article offers definitions and taxonomies for nonspeech oral movements and for diverse speaking tasks, both overt and covert. Review of the literature included searches of Medline, Google Scholar, HighWire Press, and various online sources. Search terms pertained to speech, quasispeech, paraspeech, speechlike, and nonspeech oral movements. Searches also were carried out for associated terms in oral biology, craniofacial physiology, and motor control. Nonspeech movements have a broad spectrum of clinical applications, including developmental speech and language disorders, motor speech disorders, feeding and swallowing difficulties, obstructive sleep apnea syndrome, trismus, and tardive stereotypies. The role and benefit of nonspeech oral movements are controversial in many oral motor disorders. It is argued that the clinical value of these movements can be elucidated through careful definitions and task descriptions such as those proposed in this review article.

Nonspeech Oral Movements and Oral Motor Disorders: A Narrative Review

PubMed Central

2015-01-01

Purpose Speech and other oral functions such as swallowing have been compared and contrasted with oral behaviors variously labeled quasispeech, paraspeech, speechlike, and nonspeech, all of which overlap to some degree in neural control, muscles deployed, and movements performed. Efforts to understand the relationships among these behaviors are hindered by the lack of explicit and widely accepted definitions. This review article offers definitions and taxonomies for nonspeech oral movements and for diverse speaking tasks, both overt and covert. Method Review of the literature included searches of Medline, Google Scholar, HighWire Press, and various online sources. Search terms pertained to speech, quasispeech, paraspeech, speechlike, and nonspeech oral movements. Searches also were carried out for associated terms in oral biology, craniofacial physiology, and motor control. Results and Conclusions Nonspeech movements have a broad spectrum of clinical applications, including developmental speech and language disorders, motor speech disorders, feeding and swallowing difficulties, obstructive sleep apnea syndrome, trismus, and tardive stereotypies. The role and benefit of nonspeech oral movements are controversial in many oral motor disorders. It is argued that the clinical value of these movements can be elucidated through careful definitions and task descriptions such as those proposed in this review article. PMID:26126128

The expanding spectrum of paroxysmal movement disorders: update from clinical features to therapeutics.

PubMed

McGovern, Eavan M; Roze, Emmanuel; Counihan, Timothy J

2018-05-15

This review will discuss the expanding clinical spectrum of paroxysmal movement disorders and therapeutic options in light of emerging genotypic heterogeneity in these conditions. Paroxysmal movement disorders comprise a heterogeneous group of rare neurological conditions characterized by intermittent episodes of abnormal movement associated with various triggers. As the clinical and genotypic spectrum of these disorders evolves, so also has the range of therapeutic options. Triheptanoin has recently been shown to be a very promising alternative to the ketogenic diet in paroxysmal exercise-induced dyskinesia. Four-aminopyridine is now considered first-line symptomatic therapy for episodic ataxia type-2, with pre-clinical findings indicating cerebellar neuroprotection. In light of the newly emerging therapies, careful clinical phenotyping is needed to ensure diagnostic precision and timely initiation of appropriate therapies.

Fundamental Movement Skills in Children Diagnosed with Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder

ERIC Educational Resources Information Center

Pan, Chien-Yu; Tsai, Chia-Liang; Chu, Chia-Hua

2009-01-01

The purpose of this study was to compare the movement skills of children with autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), and those without disabilities. Ninety-one children (ASD, n = 28; ADHD, n = 29; control, n = 34), ages 6-10 years, were of average IQ participated. After controlling for age, both ASD and…

The globus pallidus pars interna in goal-oriented and routine behaviors: Resolving a long-standing paradox.

PubMed

Piron, Camille; Kase, Daisuke; Topalidou, Meropi; Goillandeau, Michel; Orignac, Hugues; N'Guyen, Tho-Haï; Rougier, Nicolas; Boraud, Thomas

2016-08-01

There is an apparent contradiction between experimental data showing that the basal ganglia are involved in goal-oriented and routine behaviors and clinical observations. Lesion or disruption by deep brain stimulation of the globus pallidus interna has been used for various therapeutic purposes ranging from the improvement of dystonia to the treatment of Tourette's syndrome. None of these approaches has reported any severe impairment in goal-oriented or automatic movement. To solve this conundrum, we trained 2 monkeys to perform a variant of a 2-armed bandit-task (with different reward contingencies). In the latter we alternated blocks of trials with choices between familiar rewarded targets that elicit routine behavior and blocks with novel pairs of targets that require an intentional learning process. Bilateral inactivation of the globus pallidus interna, by injection of muscimol, prevents animals from learning new contingencies while performance remains intact, although slower for the familiar stimuli. We replicate in silico these data by adding lateral competition and Hebbian learning in the cortical layer of the theoretical model of the cortex-basal ganglia loop that provided the framework of our experimental approach. The basal ganglia play a critical role in the deliberative process that underlies learning but are not necessary for the expression of routine movements. Our approach predicts that after pallidotomy or during stimulation, patients should have difficulty with complex decision-making processes or learning new goal-oriented behaviors. © 2016 Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Fundamental Movement Skills and Autism Spectrum Disorders

ERIC Educational Resources Information Center

Staples, Kerri L.; Reid, Greg

2010-01-01

Delays and deficits may both contribute to atypical development of movement skills by children with ASD. Fundamental movement skills of 25 children with autism spectrum disorders (ASD) (ages 9-12 years) were compared to three typically developing groups using the "Test of Gross Motor Development" ("TGMD-2"). The group matched on chronological age…

Visual and non-visual motion information processing during pursuit eye tracking in schizophrenia and bipolar disorder.

PubMed

Trillenberg, Peter; Sprenger, Andreas; Talamo, Silke; Herold, Kirsten; Helmchen, Christoph; Verleger, Rolf; Lencer, Rebekka

2017-04-01

Despite many reports on visual processing deficits in psychotic disorders, studies are needed on the integration of visual and non-visual components of eye movement control to improve the understanding of sensorimotor information processing in these disorders. Non-visual inputs to eye movement control include prediction of future target velocity from extrapolation of past visual target movement and anticipation of future target movements. It is unclear whether non-visual input is impaired in patients with schizophrenia. We recorded smooth pursuit eye movements in 21 patients with schizophrenia spectrum disorder, 22 patients with bipolar disorder, and 24 controls. In a foveo-fugal ramp task, the target was either continuously visible or was blanked during movement. We determined peak gain (measuring overall performance), initial eye acceleration (measuring visually driven pursuit), deceleration after target extinction (measuring prediction), eye velocity drifts before onset of target visibility (measuring anticipation), and residual gain during blanking intervals (measuring anticipation and prediction). In both patient groups, initial eye acceleration was decreased and the ability to adjust eye acceleration to increasing target acceleration was impaired. In contrast, neither deceleration nor eye drift velocity was reduced in patients, implying unimpaired non-visual contributions to pursuit drive. Disturbances of eye movement control in psychotic disorders appear to be a consequence of deficits in sensorimotor transformation rather than a pure failure in adding cognitive contributions to pursuit drive in higher-order cortical circuits. More generally, this deficit might reflect a fundamental imbalance between processing external input and acting according to internal preferences.

Binocular vision and eye movement disorders in older adults.

PubMed

Leat, Susan J; Chan, Lisa Li-Li; Maharaj, Priya-Devi; Hrynchak, Patricia K; Mittelstaedt, Andrea; Machan, Carolyn M; Irving, Elizabeth L

2013-05-31

To determine the prevalence of binocular vision (BV) and eye movement disorders in a clinic population of older adults. Retrospective clinic data were abstracted from files of 500 older patients seen at the University of Waterloo Optometry Clinic over a 1-year period. Stratified sampling gave equal numbers of patients in the 60 to 69, 70 to 79, and 80+ age groups. Data included age, general and ocular history and symptoms, use of antidepressants, a habit of smoking, refraction, visual acuity, BV and eye movement status for the most recent full oculo-visual assessment, and an assessment 10 years prior. The prevalence of any BV or eye movement abnormal test (AT) result, defined as a test result outside the normal range, was determined. This included strabismus (any) or phoria; incomitancy; poor pursuits; and remote near point of convergence (NPC). The prevalence of significant BV disorders (diagnostic entities, i.e., a clinical condition that may need treatment and may have functional implications) was also determined. The prevalence of any BV or eye movement at was 41%, 44%, and 51% in the 60 to 69, 70 to 79, and 80+ age groups, respectively. These figures were lower for 10 years earlier: 31%, 36%, and 40% for ages 50 to 59, 60 to 69, and 70+, respectively. The prevalence of any BV or eye movement disorder was 27%, 30%, and 38% for the three age groups and 17%, 19%, and 24% for 10 years prior. Age and use of antidepressants most commonly predicted BV or eye movement AT or disorder. BV disorders are common among older adults.

Mozart's movements and behaviour: a case of Tourette's syndrome?

PubMed Central

Ashoori, Aidin; Jankovic, Joseph

2007-01-01

In this review, we intend to explore the often asked question: “Did Mozart have Tourette's syndrome?” Although there are numerous reports attributing Mozart's peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette's syndrome, autistic disorder, Asperger's syndrome, attention deficit hyperactivity disorder, obsessive–compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart's behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure. PMID:17940168

Identification of neuromotor deficits common to autism spectrum disorder and attention deficit/hyperactivity disorder, and imitation deficits specific to autism spectrum disorder.

PubMed

Biscaldi, Monica; Rauh, Reinhold; Müller, Cora; Irion, Lisa; Saville, Christopher W N; Schulz, Eberhard; Klein, Christoph

2015-12-01

Deficits in motor and imitation abilities are a core finding in autism spectrum disorders (ASD), but impaired motor functions are also found in attention deficit/hyperactivity disorder (ADHD). Given recent theorising about potential aetiological overlap between the two disorders, the present study aimed to assess difficulties in motor performance and imitation of facial movements and meaningless gestures in a sample of 24 ADHD patients, 22 patients with ASD, and 20 typically developing children, matched for age (6-13 years) and similar in IQ (>80). Furthermore, we explored the impact of comorbid ADHD symptoms on motor and imitation performance in the ASD sample and the interrelationships between the two groups of variables in the clinical groups separately. The results show motor dysfunction was common to both disorders, but imitation deficits were specific to ASD. Together with the pattern of interrelated motor and imitation abilities, which we found exclusively in the ASD group, our findings suggest complex phenotypic, and possibly aetiological, relationships between the two neurodevelopmental conditions.

Trichotillomania (hair pulling disorder), skin picking disorder, and stereotypic movement disorder: toward DSM-V.

PubMed

Stein, Dan J; Grant, Jon E; Franklin, Martin E; Keuthen, Nancy; Lochner, Christine; Singer, Harvey S; Woods, Douglas W

2010-06-01

In DSM-IV-TR, trichotillomania (TTM) is classified as an impulse control disorder (not classified elsewhere), skin picking lacks its own diagnostic category (but might be diagnosed as an impulse control disorder not otherwise specified), and stereotypic movement disorder is classified as a disorder usually first diagnosed in infancy, childhood, or adolescence. ICD-10 classifies TTM as a habit and impulse disorder, and includes stereotyped movement disorders in a section on other behavioral and emotional disorders with onset usually occurring in childhood and adolescence. This article provides a focused review of nosological issues relevant to DSM-V, given recent empirical findings. This review presents a number of options and preliminary recommendations to be considered for DSM-V: (1) Although TTM fits optimally into a category of body-focused repetitive behavioral disorders, in a nosology comprised of relatively few major categories it fits best within a category of motoric obsessive-compulsive spectrum disorders, (2) available evidence does not support continuing to include (current) diagnostic criteria B and C for TTM in DSM-V, (3) the text for TTM should be updated to describe subtypes and forms of hair pulling, (4) there are persuasive reasons for referring to TTM as "hair pulling disorder (trichotillomania)," (5) diagnostic criteria for skin picking disorder should be included in DSM-V or in DSM-Vs Appendix of Criteria Sets Provided for Further Study, and (6) the diagnostic criteria for stereotypic movement disorder should be clarified and simplified, bringing them in line with those for hair pulling and skin picking disorder. (c) 2010 Wiley-Liss, Inc.

Sleep disturbances in children with attention-deficit/hyperactivity disorder

PubMed Central

Spruyt, Karen; Gozal, David

2011-01-01

In this article, we advocate the need for better understanding and treatment of children exhibiting inattentive, hyperactive, impulsive behaviors, by in-depth questioning on sleepiness, sleep-disordered breathing or problematic behaviors at bedtime, during the night and upon awakening, as well as night-to-night sleep duration variability. The relationships between sleep and attention-deficit/hyperactivity disorder (ADHD) are complex and are routinely overlooked by practitioners. Motricity and somnolence, the most consistent complaints and objectively measured sleep problems in children with ADHD, may develop as a consequence of multidirectional and multifactorial pathways. Therefore, subjectively perceived or reported restless sleep should be evaluated with specific attention to restless legs syndrome or periodic limb movement disorder, and awakenings should be queried with regard to parasomnias, dyssomnias and sleep-disordered breathing. Sleep hygiene logs detailing sleep onset and offset quantitatively, as well as qualitatively, are required. More studies in children with ADHD are needed to reveal the 24-h phenotype, or its sleep comorbidities. PMID:21469929

Postural reconfiguration and cycle-to-cycle variability in patients with work-related musculoskeletal disorders compared to healthy controls and in relation to pain emerging during a repetitive movement task.

PubMed

Longo, Alessia; Meulenbroek, Ruud; Haid, Thomas; Federolf, Peter

2018-05-01

Movement variability in sustained repetitive tasks is an important factor in the context of work-related musculoskeletal disorders. While a popular hypothesis suggests that movement variability can prevent overuse injuries, pain evolving during task execution may also cause variability. The aim of the current study was to investigate, first, differences in movement behavior between volunteers with and without work-related pain and, second, the influence of emerging pain on movement variability. Upper-body 3D kinematics were collected as 22 subjects with musculoskeletal disorders and 19 healthy volunteers performed a bimanual repetitive tapping task with a self-chosen and a given rhythm. Three subgroups were formed within the patient group according to the level of pain the participants experienced during the task. Principal component analysis was applied to 30 joint angle coordinates to characterize in a combined analysis the movement variability associated with reconfigurations of the volunteers' postures and the cycle-to-cycle variability that occurred during the execution of the task. Patients with no task-related pain showed lower cycle-to-cycle variability compared to healthy controls. Findings also indicated an increase in movement variability as pain emerged, manifesting both as frequent postural changes and large cycle-to-cycle variability. The findings suggested a relationship between work-related musculoskeletal disorders and movement variability but further investigation is needed on this issue. Additionally, the findings provided clear evidence that pain increased motor variability. Postural reconfigurations and cycle-to-cycle variability should be considered jointly when investigating movement variability and musculoskeletal disorders. Copyright © 2018 Elsevier Ltd. All rights reserved.

Deep Brain Stimulation for Movement Disorders of Basal Ganglia Origin: Restoring Function or Functionality?

PubMed

Wichmann, Thomas; DeLong, Mahlon R

2016-04-01

Deep brain stimulation (DBS) is highly effective for both hypo- and hyperkinetic movement disorders of basal ganglia origin. The clinical use of DBS is, in part, empiric, based on the experience with prior surgical ablative therapies for these disorders, and, in part, driven by scientific discoveries made decades ago. In this review, we consider anatomical and functional concepts of the basal ganglia relevant to our understanding of DBS mechanisms, as well as our current understanding of the pathophysiology of two of the most commonly DBS-treated conditions, Parkinson's disease and dystonia. Finally, we discuss the proposed mechanism(s) of action of DBS in restoring function in patients with movement disorders. The signs and symptoms of the various disorders appear to result from signature disordered activity in the basal ganglia output, which disrupts the activity in thalamocortical and brainstem networks. The available evidence suggests that the effects of DBS are strongly dependent on targeting sensorimotor portions of specific nodes of the basal ganglia-thalamocortical motor circuit, that is, the subthalamic nucleus and the internal segment of the globus pallidus. There is little evidence to suggest that DBS in patients with movement disorders restores normal basal ganglia functions (e.g., their role in movement or reinforcement learning). Instead, it appears that high-frequency DBS replaces the abnormal basal ganglia output with a more tolerable pattern, which helps to restore the functionality of downstream networks.

Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability

PubMed Central

Bögershausen, Nina; Shahrzad, Nassim; Chong, Jessica X.; von Kleist-Retzow, Jürgen-Christoph; Stanga, Daniela; Li, Yun; Bernier, Francois P.; Loucks, Catrina M.; Wirth, Radu; Puffenberger, Eric G.; Hegele, Robert A.; Schreml, Julia; Lapointe, Gabriel; Keupp, Katharina; Brett, Christopher L.; Anderson, Rebecca; Hahn, Andreas; Innes, A. Micheil; Suchowersky, Oksana; Mets, Marilyn B.; Nürnberg, Gudrun; McLeod, D. Ross; Thiele, Holger; Waggoner, Darrel; Altmüller, Janine; Boycott, Kym M.; Schoser, Benedikt; Nürnberg, Peter; Ober, Carole; Heller, Raoul; Parboosingh, Jillian S.; Wollnik, Bernd; Sacher, Michael; Lamont, Ryan E.

2013-01-01

Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features including intellectual disability. Here, we report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with LGMD and in five individuals of Hutterite descent presenting with myopathy, infantile hyperkinetic movements, ataxia, and intellectual disability. By using a combination of whole-exome or genome sequencing with homozygosity mapping, we identified the homozygous c.2938G>A (p.Gly980Arg) missense mutation within the gryzun domain of TRAPPC11 in the Syrian LGMD family and the homozygous c.1287+5G>A splice-site mutation resulting in a 58 amino acid in-frame deletion (p.Ala372_Ser429del) in the foie gras domain of TRAPPC11 in the Hutterite families. TRAPPC11 encodes a component of the multiprotein TRAPP complex involved in membrane trafficking. We demonstrate that both mutations impair the binding ability of TRAPPC11 to other TRAPP complex components and disrupt the Golgi apparatus architecture. Marker trafficking experiments for the p.Ala372_Ser429del deletion indicated normal ER-to-Golgi trafficking but dramatically delayed exit from the Golgi to the cell surface. Moreover, we observed alterations of the lysosomal membrane glycoproteins lysosome-associated membrane protein 1 (LAMP1) and LAMP2 as a consequence of TRAPPC11 dysfunction supporting a defect in the transport of secretory proteins as the underlying pathomechanism. PMID:23830518

Cannabidiol as a Promising Strategy to Treat and Prevent Movement Disorders?

PubMed Central

Peres, Fernanda F.; Lima, Alvaro C.; Hallak, Jaime E. C.; Crippa, José A.; Silva, Regina H.; Abílio, Vanessa C.

2018-01-01

Movement disorders such as Parkinson's disease and dyskinesia are highly debilitating conditions linked to oxidative stress and neurodegeneration. When available, the pharmacological therapies for these disorders are still mainly symptomatic, do not benefit all patients and induce severe side effects. Cannabidiol is a non-psychotomimetic compound from Cannabis sativa that presents antipsychotic, anxiolytic, anti-inflammatory, and neuroprotective effects. Although the studies that investigate the effects of this compound on movement disorders are surprisingly few, cannabidiol emerges as a promising compound to treat and/or prevent them. Here, we review these clinical and pre-clinical studies and draw attention to the potential of cannabidiol in this field. PMID:29867488

Psychometric Properties of the Caregiver Assessment of Movement Participation Scale for Screening Children with Development Coordination Disorders

ERIC Educational Resources Information Center

Tsang, Kwan Lan; Bond, Trevor; Lo, Sing Kai

2010-01-01

Using Rasch analysis, the psychometric properties of a newly developed 35-item parent-proxy instrument, the Caregiver Assessment of Movement Participation (CAMP), designed to measure movement participation problems in children with Developmental Coordination Disorder, were examined. The CAMP was administered to 465 school children aged 5-10 years.…

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA).

PubMed

Ktena, Yiouli P; Paul, Scott M; Hauser, Natalie S; Sloan, Jennifer L; Gropman, Andrea; Manoli, Irini; Venditti, Charles P

2015-09-01

Methylmalonic acidemia patients have complex rehabilitation needs that can be targeted to optimize societal independence and quality of life. Thirty-seven individuals with isolated MMA (28 mut, 5 cblA, 4 cblB), aged 2-33 years, were enrolled in a natural history study, and underwent age-appropriate clinical assessments to characterize impairments and disabilities. Neurological examination and brain imaging studies were used to document movement disorders and the presence of basal ganglia injury. A range of impairments and disabilities were identified by a team of physical medicine experts. Movement disorders, such as chorea and tremor, were common (n = 31, 83%), even among patients without evidence of basal ganglia injury. Joint hypermobility (n = 24, 69%) and pes planus (n = 22, 60%) were frequent and, in many cases, under-recognized. 23 (62%) patients required gastrostomy feedings. 18/31 patients >4 years old (58%) had difficulties with bathing and dressing. 16 of 23 school-aged patients received various forms of educational support. Five of the 10 adult patients were employed or in college; three lived independently. Unmet needs were identified in access to rehabilitation services, such as physical therapy (unavailable to 14/31), and orthotics (unavailable to 15/22). We conclude that patients with MMA are challenged by a number of functional limitations in essential activities of mobility, self-care, and learning, in great part caused by movement disorders and ligamentous laxity. Early assessment, referral, and implementation of age-appropriate rehabilitation services should significantly improve independence and quality of life. © 2015 Wiley Periodicals, Inc.

What is the role of genetic testing in movement disorders practice?

PubMed

Schneider, Susanne A; Klein, Christine

2011-08-01

Genetic testing holds many promises in movement disorders, but also pitfalls that require careful consideration for meaningful results. These include the primary indication for testing in the first place, concerns regarding the implications of symptomatic, presymptomatic, and susceptibility testing, the mutation frequency in the gene of interest, the general lack of neuroprotective treatment options for neurodegenerative movement disorders, the prognosis of the condition diagnosed, and patient confidentiality concerns. Furthermore, new technical achievements and the available technical expertise, feasibility of specific gene testing, and its coverage through a health insurance carrier should be considered. Guidelines for testing have been established by some disease societies to advise clinicians and in parallel legal regulations are being adjusted at a national and international level. We review these and other critical points and recent developments regarding genetic testing in the field of movement disorders.

Variations in Articulatory Movement with Changes in Speech Task.

ERIC Educational Resources Information Center

Tasko, Stephen M.; McClean, Michael D.

2004-01-01

Studies of normal and disordered articulatory movement often rely on the use of short, simple speech tasks. However, the severity of speech disorders can be observed to vary markedly with task. Understanding task-related variations in articulatory kinematic behavior may allow for an improved understanding of normal and disordered speech motor…

Stereotypies as a manifestation of acute hyperglycemia without ketosis.

PubMed

Baizabal-Carvallo, José Fidel; Ondo, William G

2012-04-15

Acute hyperglycemia without ketosis is recognized to induce movement disorders characterized by hemichorea, hemiballismus, or hemidystonia. A video-case of hyperkinetic movement disorder resembling stereotypies in the context of uncompensated hyperglycemia without ketosis is presented, expanding the clinical phenotype of this disorder. Copyright © 2011 Elsevier B.V. All rights reserved.

Pramipexole in the treatment of REM sleep behaviour disorder: A critical review.

PubMed

Tan, Shian Ming; Wan, Yi Min

2016-09-30

While widely accepted as a first-line treatment for rapid eye movement sleep (REM) behaviour disorder, clonazepam (CNZP) has side effects that limit its applicability. Pramipexole is a possible alternative, but limited literature on its effectiveness exists. This review aims to summarize the available data on the use of pramipexole in REM sleep behaviour disorder. A systematic search of major databases was conducted to look for published and on-going trials. This search yielded a total of five articles, all of which are observational in nature. Factors associated with effectiveness include low doses (less than 1.5mg/day) and idiopathic rapid eye movement sleep behaviour disorder/absence of neurodegenerative disease. Overall, the evidence is inconclusive. This is due to the lack of randomised controlled trials and the challenges in interpreting polysomgraphy findings in rapid eye movement sleep behaviour disorder. Suggestions are given on how future trials evaluating pramipexole treatment in rapid eye movement sleep behaviour disorder could overcome current methodological issues in extant literature. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Investigation of the Association Between Motor Stereotypy Behavior With Fundamental Movement Skills, Adaptive Functioning, and Autistic Spectrum Disorder Symptomology in Children With Intellectual Disabilities.

PubMed

Powell, Joanne L; Pringle, Lydia; Greig, Matt

2017-02-01

Motor stereotypy behaviors are patterned, coordinated, repetitive behaviors that are particularly evident in those with an autistic spectrum disorder and intellectual disabilities. The extent to which motor stereotypy behavior severity is associated with motor skills and maladaptive behavior, measures of adaptive functioning, along with fundamental movement skills and degree of autistic spectrum disorder symptomology is assessed in this preliminary report. Twelve participants, aged 7 to 16 years, with a reported motor stereotypy behavior and either mild or severe intellectual disability comprising developmental or global delay took part in the study. Spearman rho correlational analysis showed that severity of motor stereotypy behavior was significantly positively correlated with autistic spectrum disorder symptomology ( P = .008) and maladaptive behavior ( P = .008) but not fundamental movement skills ( P > .05). An increase in fundamental movement skills score was associated with a decrease in autistic spectrum disorder symptomology ( P = .01) and an increase in motor skills ( P = .002). This study provides evidence showing a significant relationship between motor stereotypy behavior severity with degree of autistic spectrum disorder symptomology and maladaptive behavior.

Video analysis of motor events in REM sleep behavior disorder.

PubMed

Frauscher, Birgit; Gschliesser, Viola; Brandauer, Elisabeth; Ulmer, Hanno; Peralta, Cecilia M; Müller, Jörg; Poewe, Werner; Högl, Birgit

2007-07-30

In REM sleep behavior disorder (RBD), several studies focused on electromyographic characterization of motor activity, whereas video analysis has remained more general. The aim of this study was to undertake a detailed and systematic video analysis. Nine polysomnographic records from 5 Parkinson patients with RBD were analyzed and compared with sex- and age-matched controls. Each motor event in the video during REM sleep was classified according to duration, type of movement, and topographical distribution. In RBD, a mean of 54 +/- 23.2 events/10 minutes of REM sleep (total 1392) were identified and visually analyzed. Seventy-five percent of all motor events lasted <2 seconds. Of these events, 1,155 (83.0%) were classified as elementary, 188 (13.5%) as complex behaviors, 50 (3.6%) as violent, and 146 (10.5%) as vocalizations. In the control group, 3.6 +/- 2.3 events/10 minutes (total 264) of predominantly elementary simple character (n = 240, 90.9%) were identified. Number and types of motor events differed significantly between patients and controls (P < 0.05). This study shows a very high number and great variety of motor events during REM sleep in symptomatic RBD. However, most motor events are minor, and violent episodes represent only a small fraction. Copyright 2007 Movement Disorder Society

Oscillations in sensorimotor cortex in movement disorders: an electrocorticography study.

PubMed

Crowell, Andrea L; Ryapolova-Webb, Elena S; Ostrem, Jill L; Galifianakis, Nicholas B; Shimamoto, Shoichi; Lim, Daniel A; Starr, Philip A

2012-02-01

Movement disorders of basal ganglia origin may arise from abnormalities in synchronized oscillatory activity in a network that includes the basal ganglia, thalamus and motor cortices. In humans, much has been learned from the study of basal ganglia local field potentials recorded from temporarily externalized deep brain stimulator electrodes. These studies have led to the theory that Parkinson's disease has characteristic alterations in the beta frequency band (13-30 Hz) in the basal ganglia-thalamocortical network. However, different disorders have rarely been compared using recordings in the same structure under the same behavioural conditions, limiting straightforward assessment of current hypotheses. To address this, we utilized subdural electrocorticography to study cortical oscillations in the three most common movement disorders: Parkinson's disease, primary dystonia and essential tremor. We recorded local field potentials from the arm area of primary motor and sensory cortices in 31 subjects using strip electrodes placed temporarily during routine surgery for deep brain stimulator placement. We show that: (i) primary motor cortex broadband gamma power is increased in Parkinson's disease compared with the other conditions, both at rest and during a movement task; (ii) primary motor cortex high beta (20-30 Hz) power is increased in Parkinson's disease during the 'stop' phase of a movement task; (iii) the alpha-beta peaks in the motor and sensory cortical power spectra occur at higher frequencies in Parkinson's disease than in the other two disorders; and (iv) patients with dystonia have impaired movement-related beta band desynchronization in primary motor and sensory cortices. The findings support the emerging hypothesis that disease states reflect abnormalities in synchronized oscillatory activity. This is the first study of sensorimotor cortex local field potentials in the three most common movement disorders.

Action-effect binding is decreased in motor conversion disorder: implications for sense of agency.

PubMed

Kranick, Sarah M; Moore, James W; Yusuf, Nadia; Martinez, Valeria T; LaFaver, Kathrin; Edwards, Mark J; Mehta, Arpan R; Collins, Phoebe; Harrison, Neil A; Haggard, Patrick; Hallett, Mark; Voon, Valerie

2013-07-01

The abnormal movements seen in motor conversion disorder are affected by distraction and entrainment, similar to voluntary movement. Unlike voluntary movement, however, patients lack a sense of control for the abnormal movements, a failure of "self-agency." The action-effect binding paradigm has been used to quantify the sense of self-agency, because subjective contraction of time between an action and its effect only occurs if the patient feels that they are the agent responsible for the action. We used this paradigm, coupled with emotional stimuli, to investigate the sense of agency with voluntary movements in patients with motor conversion disorder. Twenty patients with motor conversion disorder and 20 age-matched and sex-matched healthy volunteers used a rotating clock to judge the time of their own voluntary key presses (action) and a subsequent auditory tone (effect) after they completed conditioning blocks in which high, medium, and low tones were coupled to images of happy, fearful, and neutral faces. The results replicated those produced previously: it was reported that an effect after a voluntary action occurred earlier, and the preceding action occurred later, compared with trials that used only key presses or tones. Patients had reduced overall binding scores relative to healthy volunteers, suggesting a reduced sense of agency. There was no effect of the emotional stimuli (faces) or other interaction effects. Healthy volunteers with subclinical depressive symptoms had higher overall binding scores. We demonstrate that patients with motor conversion disorder have decreased action-effect binding for normal voluntary movements compared with healthy volunteers, consistent with the greater experience of lack of control. Copyright © 2013 Movement Disorder Society.

Treatment of Sleep Disordered Breathing Reverses Low Fetal Activity Levels in Preeclampsia

PubMed Central

Blyton, Diane M.; Skilton, Michael R.; Edwards, Natalie; Hennessy, Annemarie; Celermajer, David S.; Sullivan, Colin E.

2013-01-01

Study Objectives: Preeclampsia affects 5% to 7% of pregnancies, is strongly associated with low birth weight and fetal death, and is accompanied by sleep disordered breathing. We hypothesized that sleep disordered breathing may link preeclampsia with reduced fetal movements (a marker of fetal health), and that treatment of sleep disordered breathing might improve fetal activity during sleep. Design, Setting, and Participants: First, a method of fetal movement recording was validated against ultrasound in 20 normal third trimester pregnancies. Second, fetal movement was measured overnight with concurrent polysomnography in 20 patients with preeclampsia and 20 control subjects during third trimester. Third, simultaneous polysomnography and fetal monitoring was done in 10 additional patients with preeclampsia during a control night and during a night of nasal CPAP. Intervention: Overnight continuous positive airway pressure. Measurements and Results: Women with preeclampsia had inspiratory flow limitation and an increased number of oxygen desaturations during sleep (P = 0.008), particularly during REM sleep. Preeclampsia was associated with reduced total fetal movements overnight (319 [SD 32]) versus controls (689 [SD 160], P < 0.0001) and a change in fetal movement patterns. The number of fetal hiccups was also substantially reduced in preeclampsia subjects (P < 0.0001). Continuous positive airway pressure treatment increased the number of fetal movements and hiccups (P < 0.0001 and P = 0.0002, respectively). Conclusions: The effectiveness of continuous positive airway pressure in improving fetal movements suggests a pathogenetic role for sleep disordered breathing in the reduced fetal activity and possibly in the poorer fetal outcomes associated with preeclampsia. Citation: Blyton DM; Skilton MR; Edwards N; Hennessy A; Celermajer DS; Sullivan CE. Treatment of sleep disordered breathing reverses low fetal activity levels in preeclampsia. SLEEP 2013;36(1):15–21. PMID:23288967

The promises of stem cells: stem cell therapy for movement disorders.

PubMed

Mochizuki, Hideki; Choong, Chi-Jing; Yasuda, Toru

2014-01-01

Despite the multitude of intensive research, the exact pathophysiological mechanisms underlying movement disorders including Parkinson's disease, multiple system atrophy and Huntington's disease remain more or less elusive. Treatments to halt these disease progressions are currently unavailable. With the recent induced pluripotent stem cells breakthrough and accomplishment, stem cell research, as the vast majority of scientists agree, holds great promise for relieving and treating debilitating movement disorders. As stem cells are the precursors of all cells in the human body, an understanding of the molecular mechanisms that govern how they develop and work would provide us many fundamental insights into human biology of health and disease. Moreover, stem-cell-derived neurons may be a renewable source of replacement cells for damaged neurons in movement disorders. While stem cells show potential for regenerative medicine, their use as tools for research and drug testing is thought to have more immediate impact. The use of stem-cell-based drug screening technology could be a big boost in drug discovery for these movement disorders. Particular attention should also be given to the involvement of neural stem cells in adult neurogenesis so as to encourage its development as a therapeutic option. Copyright © 2013 Elsevier Ltd. All rights reserved.

Shared and differentiated motor skill impairments in children with dyslexia and/or attention deficit disorder: From simple to complex sequential coordination

PubMed Central

Morin-Moncet, Olivier; Bélanger, Anne-Marie; Beauchamp, Miriam H.; Leonard, Gabriel

2017-01-01

Dyslexia and Attention deficit disorder (AD) are prevalent neurodevelopmental conditions in children and adolescents. They have high comorbidity rates and have both been associated with motor difficulties. Little is known, however, about what is shared or differentiated in dyslexia and AD in terms of motor abilities. Even when motor skill problems are identified, few studies have used the same measurement tools, resulting in inconstant findings. The present study assessed increasingly complex gross motor skills in children and adolescents with dyslexia, AD, and with both Dyslexia and AD. Our results suggest normal performance on simple motor-speed tests, whereas all three groups share a common impairment on unimanual and bimanual sequential motor tasks. Children in these groups generally improve with practice to the same level as normal subjects, though they make more errors. In addition, children with AD are the most impaired on complex bimanual out-of-phase movements and with manual dexterity. These latter findings are examined in light of the Multiple Deficit Model. PMID:28542319

Insights into Parkinson's disease from computational models of the basal ganglia.

PubMed

Humphries, Mark D; Obeso, Jose Angel; Dreyer, Jakob Kisbye

2018-04-17

Movement disorders arise from the complex interplay of multiple changes to neural circuits. Successful treatments for these disorders could interact with these complex changes in myriad ways, and as a consequence their mechanisms of action and their amelioration of symptoms are incompletely understood. Using Parkinson's disease as a case study, we review here how computational models are a crucial tool for taming this complexity, across causative mechanisms, consequent neural dynamics and treatments. For mechanisms, we review models that capture the effects of losing dopamine on basal ganglia function; for dynamics, we discuss models that have transformed our understanding of how beta-band (15-30 Hz) oscillations arise in the parkinsonian basal ganglia. For treatments, we touch on the breadth of computational modelling work trying to understand the therapeutic actions of deep brain stimulation. Collectively, models from across all levels of description are providing a compelling account of the causes, symptoms and treatments for Parkinson's disease. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Moving Parkinson care to the home.

PubMed

Dorsey, E Ray; Vlaanderen, Floris P; Engelen, Lucien Jlpg; Kieburtz, Karl; Zhu, William; Biglan, Kevin M; Faber, Marjan J; Bloem, Bastiaan R

2016-09-01

In many ways, the care of individuals with Parkinson disease does not meet their needs. Despite the documented benefits of receiving care from clinicians with Parkinson disease expertise, many patients (if not most) do not. Moreover, current care models frequently require older individuals with impaired mobility, cognition, and driving ability to be driven by overburdened caregivers to large, complex urban medical centers. Moving care to the patient's home would make Parkinson disease care more patient-centered. Demographic factors, including aging populations, and social factors, such as the splintering of the extended family, will increase the need for home-based care. Technological advances, especially the ability to assess and deliver care remotely, will enable the transition of care back to the home. However, despite its promise, this next generation of home-based care will have to overcome barriers, including outdated insurance models and a technological divide. Once these barriers are addressed, home-based care will increase access to high quality care for the growing number of individuals with Parkinson disease. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Characteristics of stereotypic movement disorder and self-injurious behavior assessed with the Diagnostic Assessment for the Severely Handicapped (DASH-II).

PubMed

Matson, J L; Hamilton, M; Duncan, D; Bamburg, J; Smiroldo, B; Anderson, S; Baglio, C

1997-01-01

The first experiment involved 143 individuals with severe and profound mental retardation. Individuals with Stereotypic Movement Disorder, Self-Injurious Behavior (SIB), and Stereotypic movement disorder with self-injurious behavior as assessed by the Diagnostic Assessment for the Severely Handicapped-II DASH-II were validated against Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM-IV; American Psychiatric Association, 1994) criteria. In a second study DASH-II scores for 1480 individuals with severe and profound mental retardation were compared on demographic variables, core and associated features of each disorder. Characteristics of persons in each group were reviewed. Persons with profound mental retardation were more likely to evince stereotypies or self-injury compared to their severely impaired counterparts. Also, those with stereotypies were more likely to present with Pervasive Developmental Disorder (PDD)/autism, organicity, and eating disorders, while persons with SIB were more likely to evince sleep, sexual, and eating disorders.

Genetics of hereditary neurological disorders in children.

PubMed

Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

2014-04-01

Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

Selected sleep disorders: restless legs syndrome and periodic limb movement disorder, sleep apnea syndrome, and narcolepsy.

PubMed

Erman, Milton K

2006-12-01

Sleep disorders, including restless legs syndrome and periodic limb movement disorder, sleep apnea syndrome, and narcolepsy, are prevalent medical conditions, likely to be seen by practicing psychiatrists. Awareness of these conditions and their presentations, pathophysiology, and treatment allows psychiatrists to treat these conditions where appropriate, to minimize complications and health consequences associated with delayed diagnosis, and to reduce the burden of disease that these conditions may place on patients already experiencing primary psychiatric disorders.

Basal ganglia dysfunction in idiopathic REM sleep behaviour disorder parallels that in early Parkinson's disease.

PubMed

Rolinski, Michal; Griffanti, Ludovica; Piccini, Paola; Roussakis, Andreas A; Szewczyk-Krolikowski, Konrad; Menke, Ricarda A; Quinnell, Timothy; Zaiwalla, Zenobia; Klein, Johannes C; Mackay, Clare E; Hu, Michele T M

2016-08-01

SEE POSTUMA DOI101093/AWW131 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: Resting state functional magnetic resonance imaging dysfunction within the basal ganglia network is a feature of early Parkinson's disease and may be a diagnostic biomarker of basal ganglia dysfunction. Currently, it is unclear whether these changes are present in so-called idiopathic rapid eye movement sleep behaviour disorder, a condition associated with a high rate of future conversion to Parkinson's disease. In this study, we explore the utility of resting state functional magnetic resonance imaging to detect basal ganglia network dysfunction in rapid eye movement sleep behaviour disorder. We compare these data to a set of healthy control subjects, and to a set of patients with established early Parkinson's disease. Furthermore, we explore the relationship between resting state functional magnetic resonance imaging basal ganglia network dysfunction and loss of dopaminergic neurons assessed with dopamine transporter single photon emission computerized tomography, and perform morphometric analyses to assess grey matter loss. Twenty-six patients with polysomnographically-established rapid eye movement sleep behaviour disorder, 48 patients with Parkinson's disease and 23 healthy control subjects were included in this study. Resting state networks were isolated from task-free functional magnetic resonance imaging data using dual regression with a template derived from a separate cohort of 80 elderly healthy control participants. Resting state functional magnetic resonance imaging parameter estimates were extracted from the study subjects in the basal ganglia network. In addition, eight patients with rapid eye movement sleep behaviour disorder, 10 with Parkinson's disease and 10 control subjects received (123)I-ioflupane single photon emission computerized tomography. We tested for reduction of basal ganglia network connectivity, and for loss of tracer uptake in rapid eye movement sleep behaviour disorder and Parkinson's disease relative to each other and to controls. Connectivity measures of basal ganglia network dysfunction differentiated both rapid eye movement sleep behaviour disorder and Parkinson's disease from controls with high sensitivity (96%) and specificity (74% for rapid eye movement sleep behaviour disorder, 78% for Parkinson's disease), indicating its potential as an indicator of early basal ganglia dysfunction. Rapid eye movement sleep behaviour disorder was indistinguishable from Parkinson's disease on resting state functional magnetic resonance imaging despite obvious differences on dopamine transported single photon emission computerized tomography. Basal ganglia connectivity is a promising biomarker for the detection of early basal ganglia network dysfunction, and may help to identify patients at risk of developing Parkinson's disease in the future. Future risk stratification using a polymodal approach could combine basal ganglia network connectivity with clinical and other imaging measures, with important implications for future neuroprotective trials in rapid eye movement sleep behaviour disorder. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain.

Basal ganglia dysfunction in idiopathic REM sleep behaviour disorder parallels that in early Parkinson’s disease

PubMed Central

Rolinski, Michal; Griffanti, Ludovica; Piccini, Paola; Roussakis, Andreas A.; Szewczyk-Krolikowski, Konrad; Menke, Ricarda A.; Quinnell, Timothy; Zaiwalla, Zenobia; Klein, Johannes C.; Mackay, Clare E.

2016-01-01

Abstract See Postuma (doi:10.1093/aww131) for a scientific commentary on this article. Resting state functional magnetic resonance imaging dysfunction within the basal ganglia network is a feature of early Parkinson’s disease and may be a diagnostic biomarker of basal ganglia dysfunction. Currently, it is unclear whether these changes are present in so-called idiopathic rapid eye movement sleep behaviour disorder, a condition associated with a high rate of future conversion to Parkinson’s disease. In this study, we explore the utility of resting state functional magnetic resonance imaging to detect basal ganglia network dysfunction in rapid eye movement sleep behaviour disorder. We compare these data to a set of healthy control subjects, and to a set of patients with established early Parkinson’s disease. Furthermore, we explore the relationship between resting state functional magnetic resonance imaging basal ganglia network dysfunction and loss of dopaminergic neurons assessed with dopamine transporter single photon emission computerized tomography, and perform morphometric analyses to assess grey matter loss. Twenty-six patients with polysomnographically-established rapid eye movement sleep behaviour disorder, 48 patients with Parkinson’s disease and 23 healthy control subjects were included in this study. Resting state networks were isolated from task-free functional magnetic resonance imaging data using dual regression with a template derived from a separate cohort of 80 elderly healthy control participants. Resting state functional magnetic resonance imaging parameter estimates were extracted from the study subjects in the basal ganglia network. In addition, eight patients with rapid eye movement sleep behaviour disorder, 10 with Parkinson’s disease and 10 control subjects received 123I-ioflupane single photon emission computerized tomography. We tested for reduction of basal ganglia network connectivity, and for loss of tracer uptake in rapid eye movement sleep behaviour disorder and Parkinson’s disease relative to each other and to controls. Connectivity measures of basal ganglia network dysfunction differentiated both rapid eye movement sleep behaviour disorder and Parkinson’s disease from controls with high sensitivity (96%) and specificity (74% for rapid eye movement sleep behaviour disorder, 78% for Parkinson’s disease), indicating its potential as an indicator of early basal ganglia dysfunction. Rapid eye movement sleep behaviour disorder was indistinguishable from Parkinson’s disease on resting state functional magnetic resonance imaging despite obvious differences on dopamine transported single photon emission computerized tomography. Basal ganglia connectivity is a promising biomarker for the detection of early basal ganglia network dysfunction, and may help to identify patients at risk of developing Parkinson’s disease in the future. Future risk stratification using a polymodal approach could combine basal ganglia network connectivity with clinical and other imaging measures, with important implications for future neuroprotective trials in rapid eye movement sleep behaviour disorder. PMID:27297241

Fundamental Movement Skills and Children with Attention-Deficit Hyperactivity Disorder: Peer Comparisons and Stimulant Effects

ERIC Educational Resources Information Center

Harvey, William J.; Reid, Greg; Grizenko, Natalie; Mbekou, Valentin; Ter-Stepanian, Marina; Joober, Ridha

2007-01-01

The purpose of this study was to compare the fundamental movement skills of 22 children with attention-deficit hyperactivity disorder (ADHD), from 6 to 12 years of age, to gender- and age-matched peers without ADHD and assess the effects of stimulant medication on the movement skill performance of the children with ADHD. Repeated measures analyses…

Phenomenology and classification of dystonia: a consensus update.

PubMed

Albanese, Alberto; Bhatia, Kailash; Bressman, Susan B; Delong, Mahlon R; Fahn, Stanley; Fung, Victor S C; Hallett, Mark; Jankovic, Joseph; Jinnah, Hyder A; Klein, Christine; Lang, Anthony E; Mink, Jonathan W; Teller, Jan K

2013-06-15

This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed the definition and classification of dystonia. Agreement was obtained based on a consensus development methodology during 3 in-person meetings and manuscript review by mail. Dystonia is defined as a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation. Dystonia is classified along 2 axes: clinical characteristics, including age at onset, body distribution, temporal pattern and associated features (additional movement disorders or neurological features); and etiology, which includes nervous system pathology and inheritance. The clinical characteristics fall into several specific dystonia syndromes that help to guide diagnosis and treatment. We provide here a new general definition of dystonia and propose a new classification. We encourage clinicians and researchers to use these innovative definition and classification and test them in the clinical setting on a variety of patients with dystonia. © 2013 Movement Disorder Society. © 2013 Movement Disorder Society.

Hysterical chorea: Report of an outbreak and movie documentation by Arthur Van Gehuchten (1861-1914).

PubMed

Giménez-Roldán, Santiago; Aubert, Geneviève

2007-06-15

Psychogenic movement disorders remain a frequent and important clinical problem. First described in the Middle Ages, the dancing mania is considered to be one form of mass hysteria characterized by outbreaks of collective movement disorders. Patients may exhibit a wide variety of movement and gait disturbances, including tremulousness, jerks, or convulsions, usually with a sudden onset. Arthur Van Gehuchten (1861-1914), a distinguished Belgian neuroanatomist and neurologist, reported an outbreak of sudden involuntary movements in 13 adolescent girls residing in an orphanage. The description is to be found in his book Les Maladies nerveuses, completed before 1914 and published posthumously in 1920. The chapter is illustrated with sequential photographs of a girl exhibiting a peculiar gait, which is descriptively referred to as "chorée salutatoire" (saluting chorea). The original film with these pictures has been retrieved and is presented here together with a very similar film excerpt also found in Van Gehuchten's film collection. Van Gehuchten's movie documentation of a psychogenic movement disorder--labeled chorea but which should probably be considered as dystonia according to contemporary classification--appears to be unique. This report illustrates the tremendous value of moving pictures in recording and analyzing movement disorders.

Sleep less and bite more: sleep disorders associated with occlusal loads during sleep.

PubMed

Kato, Takafumi; Yamaguchi, Taihiko; Okura, Kazuo; Abe, Susumu; Lavigne, Gilles J

2013-04-01

Occlusal overload during sleep is a significant clinical issue that has negative impacts on the maintenance of teeth and the longevity of dental prostheses. Sleep is usually viewed as an 'out-of-functional' mode for masticatory muscles. However, orodental structures and prostheses are not free from occlusal loads during sleep since masticatory muscles can be activated at a low level within normal sleep continuity. Thus, an increase in masticatory muscle contractions, by whatever the cause, can be associated with a risk of increased occlusal loads during sleep. Among such conditions, sleep bruxism (SB) is a type of sleep-related movement disorders with potential load challenge to the tooth and orofacial structures. Patients with SB usually report frequent tooth grinding noises during sleep and there is a consecutive increase in number and strength of rhythmic masticatory muscle activity (RMMA). Other types of masticatory muscle contractions can be non-specifically activated during sleep, such as brief contractions with tooth tapping, sleep talking, non-rhythmic contractions related to non-specific body movements, etc.; these occur more frequently in sleep disorders. Studies have shown that clinical signs and symptoms of SB can be found in patients with sleep disorders. In addition, sleep becomes compromised with aging process, and a prevalence of most sleep disorders is high in the elderly populations, in which prosthodontic rehabilitations are more required. Therefore, the recognition and understanding of the role of sleep disorders can provide a comprehensive vision for prosthodontic rehabilitations when prosthodontists manage complex orodental cases needing interdisciplinary collaborations between dentistry and sleep medicine. Copyright © 2013 Japan Prosthodontic Society. Published by Elsevier Ltd. All rights reserved.

Aberrant supplementary motor complex and limbic activity during motor preparation in motor conversion disorder

PubMed Central

Voon, V; Brezing, C; Gallea, C; Hallett, M

2014-01-01

Background Conversion disorder is characterized by unexplained neurological symptoms presumed related to psychological issues. The main hypotheses to explain conversion paralysis, characterized by a lack of movement, include impairments in either motor intention or disruption of motor execution, and further, that hyperactive self-monitoring, limbic processing or top-down regulation from higher order frontal regions may interfere with motor execution. We have recently shown that conversion disorder with positive abnormal or excessive motor symptoms was associated with greater amygdala activity to arousing stimuli along with greater functional connectivity between the amgydala and supplementary motor area. Here we studied patients with such symptoms focusing on motor initiation. Methods Subjects performed either an internally or externally generated two-button action selection task in a functional MRI study. Results Eleven conversion disorder patients without major depression and 11 age- and gender-matched normal volunteers were assessed. During both internally and externally generated movement, conversion disorder patients relative to normal volunteers had lower left supplementary motor area (SMA) (implicated in motor initiation) and higher right amygdala, left anterior insula and bilateral posterior cingulate activity (implicated in assigning emotional salience). These findings were confirmed in a subgroup analysis of patients with tremor symptoms. During internally versus externally generated action in CD patients, the left SMA had lower functional connectivity with bilateral dorsolateral prefrontal cortices. Conclusion We propose a theory in which previously mapped conversion motor representations may in an arousing context hijack the voluntary action selection system which is both hypoactive and functionally disconnected from prefrontal top-down regulation. PMID:21935985

[Genetics of tremor].

PubMed

Kuhlenbäumer, G; Hopfner, F

2018-04-01

Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor. The genetics of essential tremor and differential diagnosis of monogenic diseases with the symptom tremor. Literature search and search of clinical genetics databases, e.g. OMIM, GeneReviews, MDSGene and the German Neurological Society (DGN) guidelines. The genetics of essential tremor remain unresolved in spite of large, adequately powered studies. Tremor is a symptom of differential diagnostic value in many movement disorders. A slight tremor might have been missed or not reported in many descriptions of movement disorders. Progress in the genetics of essential tremor probably requires a more detailed phenotyping allowing stratification into phenotypically defined subgroups. Tremor should always be included in the examination and description of movement disorders even if tremor is not a cardinal symptom. Tremor might be helpful in the differential diagnosis of hereditary dystonia, hereditary ataxia, spastic paraplegia and other movement disorders.

Potential contributions of hypnosis to ego-strengthening procedures in EMDR. Eye Movement Desensitization Reprocessing.

PubMed

Phillips, M

2001-01-01

This paper explores how hypnotic principles can be systematically incorporated into the standard EMDR protocol to enhance various ego strength capacities during EMDR treatment. Expanding these skill areas can widen the therapeutic window of possibility for clients with a variety of complex clinical issues, including posttraumatic, dissociative or personality disorders, anxiety symptoms, and depressive difficulties. Clinical case examples are used to illustrate ways of integrating hypnotic principles within a proposed EMDR protocol to promote ego strengthening and facilitate therapeutic change.

Response inhibition in motor conversion disorder.

PubMed

Voon, Valerie; Ekanayake, Vindhya; Wiggs, Edythe; Kranick, Sarah; Ameli, Rezvan; Harrison, Neil A; Hallett, Mark

2013-05-01

Conversion disorders (CDs) are unexplained neurological symptoms presumed to be related to a psychological issue. Studies focusing on conversion paralysis have suggested potential impairments in motor initiation or execution. Here we studied CD patients with aberrant or excessive motor movements and focused on motor response inhibition. We also assessed cognitive measures in multiple domains. We compared 30 CD patients and 30 age-, sex-, and education-matched healthy volunteers on a motor response inhibition task (go/no go), along with verbal motor response inhibition (color-word interference) and measures of attention, sustained attention, processing speed, language, memory, visuospatial processing, and executive function including planning and verbal fluency. CD patients had greater impairments in commission errors on the go/no go task (P < .001) compared with healthy volunteers, which remained significant after Bonferroni correction for multiple comparisons and after controlling for attention, sustained attention, depression, and anxiety. There were no significant differences in other cognitive measures. We highlight a specific deficit in motor response inhibition that may play a role in impaired inhibition of unwanted movement such as the excessive and aberrant movements seen in motor conversion. Patients with nonepileptic seizures, a different form of conversion disorder, are commonly reported to have lower IQ and multiple cognitive deficits. Our results point toward potential differences between conversion disorder subgroups. © 2013 Movement Disorder Society. Copyright © 2013 Movement Disorder Society.

Bruxism in Movement Disorders: A Comprehensive Review.

PubMed

Ella, Bruno; Ghorayeb, Imad; Burbaud, Pierre; Guehl, Dominique

2017-10-01

Bruxism is an abnormal repetitive movement disorder characterized by jaw clenching and tooth gnashing or grinding. It is classified into two overlapping types: awake bruxism (AB) and sleep bruxism (SB). Theories on factors causing bruxism are a matter of controversy, but a line of evidence suggests that it may to some extent be linked to basal ganglia dysfunction although so far, this topic has received little attention. The purpose of this article was to review cases of bruxism reported in various movement disorders. The biomedical literature was searched for publications reporting the association of bruxism with various types of movement disorders. As a whole, very few series were found, and most papers corresponded to clinical reports. In Parkinsonian syndromes, AB was rarely reported, but seems to be exacerbated by medical treatment, whereas SB is mainly observed during non-REM sleep, as in restless leg syndrome. AB is occasionally reported in Huntington's disease, primary dystonia, and secondary dystonia; however, its highest incidence and severity is reported in syndromes combining stereotypies and cognitive impairment, such as Rett's syndrome (97%), Down syndrome (42%), and autistic spectrum disorders (32%). Taken as a whole, AB seems to be more frequent in hyperkinetic movement disorders, notably those with stereotypies, and is influenced by anxiety, suggesting an involvement of the limbic part of the basal ganglia in its pathophysiology. © 2016 by the American College of Prosthodontists.

Audio-Visual Stimulation in Conjunction with Functional Electrical Stimulation to Address Upper Limb and Lower Limb Movement Disorder.

PubMed

Kumar, Deepesh; Verma, Sunny; Bhattacharya, Sutapa; Lahiri, Uttama

2016-06-13

Neurological disorders often manifest themselves in the form of movement deficit on the part of the patient. Conventional rehabilitation often used to address these deficits, though powerful are often monotonous in nature. Adequate audio-visual stimulation can prove to be motivational. In the research presented here we indicate the applicability of audio-visual stimulation to rehabilitation exercises to address at least some of the movement deficits for upper and lower limbs. Added to the audio-visual stimulation, we also use Functional Electrical Stimulation (FES). In our presented research we also show the applicability of FES in conjunction with audio-visual stimulation delivered through VR-based platform for grasping skills of patients with movement disorder.

Do Communication Disorders Extend to Musical Messages?: An Answer from Children with Hearing Loss or Autism Spectrum Disorders

PubMed Central

Whipple, Christina M.; Gfeller, Kate; Driscoll, Virginia; Oleson, Jacob; McGregor, Karla

2014-01-01

Background Effective musical communication requires conveyance of the intended message in a manner perceptible to the receiver. Communication disorders that impair transmitting or decoding of structural features of music (e.g., pitch, timbre) and/or symbolic representation may result in atypical musical communication, which can have a negative impact on music therapy interventions. Objective This study compared recognition of symbolic representation of emotions or movements in music by two groups of children with different communicative characteristics: severe to profound hearing loss (using cochlear implants [CI]) and autism spectrum disorder (ASD). Their responses were compared to those of children with typical-development and normal hearing (TD-NH). Accuracy was examined as a function of communicative status, emotional or movement category, and individual characteristics. Methods Participants listened to recorded musical excerpts conveying emotions or movements and matched them with labels. Measures relevant to auditory and/or language function were also gathered. Results There was no significant difference between the ASD and TD-NH groups in identification of musical emotions or movements. However, the CI group was significantly less accurate than the other two groups in identification of both emotions and movements. Mixed effects logistic regression revealed different patterns of accuracy for specific emotions as a function of group. Conclusion Conveyance of emotions or movements through music may be decoded differently by persons with different types of communication disorders. Because music is the primary therapeutic tool in music therapy sessions, clinicians should consider these differential abilities when selecting music for clinical interventions focusing on emotions or movement. PMID:25691513

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

PubMed

Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B; Sykut-Cegielska, Jolanta; Wijburg, Frits A; Teles, Elisa Leão; Zeman, Jiri; Dionisi-Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean-Baptiste; Avram, Paula; Baumgartner, Matthias R; Blasco-Alonso, Javier; Boy, S P Nikolas; Rasmussen, Marlene Bøgehus; Burgard, Peter; Chabrol, Brigitte; Chakrapani, Anupam; Chapman, Kimberly; Cortès I Saladelafont, Elisenda; Couce, Maria L; de Meirleir, Linda; Dobbelaere, Dries; Furlan, Francesca; Gleich, Florian; González, Maria Julieta; Gradowska, Wanda; Grünewald, Stephanie; Honzik, Tomas; Hörster, Friederike; Ioannou, Hariklea; Jalan, Anil; Häberle, Johannes; Haege, Gisela; Langereis, Eveline; de Lonlay, Pascale; Martinelli, Diego; Matsumoto, Shirou; Mühlhausen, Chris; Murphy, Elaine; de Baulny, Hélène Ogier; Ortez, Carlos; Pedrón, Consuelo C; Pintos-Morell, Guillem; Pena-Quintana, Luis; Ramadža, Danijela Petković; Rodrigues, Esmeralda; Scholl-Bürgi, Sabine; Sokal, Etienne; Summar, Marshall L; Thompson, Nicholas; Vara, Roshni; Pinera, Inmaculada Vives; Walter, John H; Williams, Monique; Lund, Allan M; Garcia-Cazorla, Angeles; Garcia Cazorla, Angeles

2015-11-01

The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population. Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

Thoughts on selected movement disorder terminology and a plea for clarity.

PubMed

Walker, Ruth H

2013-01-01

Description of the phenomenology of movement disorders requires precise and accurate terminology. Many of the terms that have been widely used in the literature are imprecise and open to interpretation. An examination of these terms and the assumptions implicit in their usage is important to improve communication and hence the definition, diagnosis, and treatment of movement disorders. I recommend that the term dyskinesia should be used primarily in the settings of Parkinson's disease and tardive dyskinesia, in which its clinical implications are relatively clear; it should not be used in other situations where a precise description could more usefully facilitate diagnosis and treatment. In general dyskinesia should be used in the singular form. Extrapyramidal is based upon obsolete anatomical concepts, is uninformative, and should be discarded. The term abnormal involuntary movements (AIMs) is similarly vague and uninformative, although is unlikely to be eliminated from the psychiatric literature. Movement disorder neurologists as teachers, clinicians, article reviewers, and journal editors have the responsibility to educate our colleagues regarding appropriate usage and the importance of employing correct descriptors.

Three-Dimensional Kinematic Analysis of Prehension Movements in Young Children with Autism Spectrum Disorder: New Insights on Motor Impairment.

PubMed

Campione, Giovanna Cristina; Piazza, Caterina; Villa, Laura; Molteni, Massimo

2016-06-01

The study was aimed at better clarifying whether action execution impairment in autism depends mainly on disruptions either in feedforward mechanisms or in feedback-based control processes supporting motor execution. To this purpose, we analyzed prehension movement kinematics in 4- and 5-year-old children with autism and in peers with typical development. Statistical analysis showed that the kinematics of the grasp component was spared in autism, whereas early kinematics of the reach component was atypical. We discussed this evidence as suggesting impairment in the feedforward processes involved in action execution, whereas impairment in feedback-based control processes remained unclear. We proposed that certain motor abilities are available in autism, and children may use them differently as a function of motor context complexity.

Advances in graphonomics: studies on fine motor control, its development and disorders.

PubMed

Van Gemmert, Arend W A; Teulings, Hans-Leo

2006-10-01

During the past 20 years graphonomic research has become a major contributor to the understanding of human movement science. Graphonomic research investigates the relationship between the planning and generation of fine motor tasks, in particular, handwriting and drawing. Scientists in this field are at the forefront of using new paradigms to investigate human movement. The 16 articles in this special issue of Human Movement Science show that the field of graphonomics makes an important contribution to the understanding of fine motor control, motor development, and movement disorders. Topics discussed include writer's cramp, multiple sclerosis, Parkinson's disease, schizophrenia, drug-induced parkinsonism, dopamine depletion, dysgraphia, motor development, developmental coordination disorder, caffeine, alertness, arousal, sleep deprivation, visual feedback transformation and suppression, eye-hand coordination, pen grip, pen pressure, movement fluency, bimanual interference, dominant versus non-dominant hand, tracing, freehand drawing, spiral drawing, reading, typewriting, and automatic segmentation.

An Investigation of Upper Limb Motor Function in High Functioning Autism and Asperger's Disorder Using a Repetitive Fitts' Aiming Task

ERIC Educational Resources Information Center

Papadopoulos, Nicole; McGinley, Jennifer; Tonge, Bruce J.; Bradshaw, John L.; Saunders, Kerryn; Rinehart, Nicole J.

2012-01-01

There is now a growing body of research examining movement difficulties in children diagnosed with high functioning autism (HFA) and Asperger's disorder (AD). Despite this, few studies have investigated the kinematic components of movement that may be disrupted in children diagnosed with these disorders. The current study investigated rapid aiming…

Treatment of a Patient with Borderline Personality Disorder Based on Phase-Oriented Model of Eye Movement Desensitization and Reprocessing (EMDR): A Case Report.

PubMed

Momeni Safarabad, Nahid; Asgharnejad Farid, Ali-Asghar; Gharraee, Banafsheh; Habibi, Mojtaba

2018-01-01

Objective: This study aimed at reporting the effect of the 3-phase model of eye movement desensitization and reprocessing in the treatment of a patient with borderline personality disorder. Method : A 33-year-old female, who met the DSM-IV-TR criteria for borderline personality disorder, received a 20-session therapy based on the 3-phase model of eye movement desensitization and reprocessing. Borderline Personality Disorder Checklist (BPD-Checklist), Dissociative Experience Scale (DES-II), Beck Depression Inventory-II-second edition (BDI-II), and Anxiety Inventory (BAI) were filled out by the patient at all treatment phases and at the 3- month follow- up. Results: According to the obtained results, the patient's pretest scores in all research tools were 161, 44, 37, and 38 for BPD-Checklist, DES-II, BDI-II, and BAI, respectively. After treatment, these scores decreased significantly (69, 14, 6 and 10 respectively). So, the patient exhibited improvement in borderline personality disorder, dissociative, depression and anxiety symptoms, which were maintained after the 3-month follow-up. Conclusion: The results supported the positive effect of phasic model of eye movement desensitization and reprocessing on borderline personality disorder.

Treatment of a Patient with Borderline Personality Disorder Based on Phase-Oriented Model of Eye Movement Desensitization and Reprocessing (EMDR): A Case Report

PubMed Central

Momeni Safarabad, Nahid; Asgharnejad Farid, Ali-Asghar; Gharraee, Banafsheh; Habibi, Mojtaba

2018-01-01

Objective: This study aimed at reporting the effect of the 3-phase model of eye movement desensitization and reprocessing in the treatment of a patient with borderline personality disorder. Method : A 33-year-old female, who met the DSM-IV-TR criteria for borderline personality disorder, received a 20-session therapy based on the 3-phase model of eye movement desensitization and reprocessing. Borderline Personality Disorder Checklist (BPD-Checklist), Dissociative Experience Scale (DES-II), Beck Depression Inventory-II-second edition (BDI-II), and Anxiety Inventory (BAI) were filled out by the patient at all treatment phases and at the 3- month follow- up. Results: According to the obtained results, the patient’s pretest scores in all research tools were 161, 44, 37, and 38 for BPD-Checklist, DES-II, BDI-II, and BAI, respectively. After treatment, these scores decreased significantly (69, 14, 6 and 10 respectively). So, the patient exhibited improvement in borderline personality disorder, dissociative, depression and anxiety symptoms, which were maintained after the 3-month follow-up. Conclusion: The results supported the positive effect of phasic model of eye movement desensitization and reprocessing on borderline personality disorder. PMID:29892320

Clinical-Radiologic Correlation of Extraocular Eye Movement Disorders: Seeing beneath the Surface.

PubMed

Thatcher, Joshua; Chang, Yu-Ming; Chapman, Margaret N; Hovis, Keegan; Fujita, Akifumi; Sobel, Rachel; Sakai, Osamu

2016-01-01

Extraocular eye movement disorders are relatively common and may be a significant source of discomfort and morbidity for patients. The presence of restricted eye movement can be detected clinically with quick, easily performed, noninvasive maneuvers that assess medial, lateral, upward, and downward gaze. However, detecting the presence of ocular dysmotility may not be sufficient to pinpoint the exact cause of eye restriction. Imaging plays an important role in excluding, in some cases, and detecting, in others, a specific cause responsible for the clinical presentation. However, the radiologist should be aware that the imaging findings in many of these conditions when taken in isolation from the clinical history and symptoms are often nonspecific. Normal eye movements are directly controlled by the ocular motor cranial nerves (CN III, IV, and VI) in coordination with indirect input or sensory stimuli derived from other cranial nerves. Specific causes of ocular dysmotility can be localized to the cranial nerve nuclei in the brainstem, the cranial nerve pathways in the peripheral nervous system, and the extraocular muscles in the orbit, with disease at any of these sites manifesting clinically as an eye movement disorder. A thorough understanding of central nervous system anatomy, cranial nerve pathways, and orbital anatomy, as well as familiarity with patterns of eye movement restriction, are necessary for accurate detection of radiologic abnormalities that support a diagnostic source of the suspected extraocular movement disorder. © RSNA, 2016.

Gamma knife radiosurgery in movement disorders: Indications and limitations.

PubMed

Higuchi, Yoshinori; Matsuda, Shinji; Serizawa, Toru

2017-01-01

Functional radiosurgery has advanced steadily during the past half century since the development of the gamma knife technique for treating intractable cancer pain. Applications of radiosurgery for intracranial diseases have increased with a focus on understanding radiobiology. Currently, the use of gamma knife radiosurgery to ablate deep brain structures is not widespread because visualization of the functional targets remains difficult despite the increased availability of advanced neuroimaging technology. Moreover, most existing reports have a small sample size or are retrospective. However, increased experience with intraoperative neurophysiological evaluations in radiofrequency thalamotomy and deep brain stimulation supports anatomical and neurophysiological approaches to the ventralis intermedius nucleus. Two recent prospective studies have promoted the clinical application of functional radiosurgery for movement disorders. For example, unilateral gamma knife thalamotomy is a potential alternative to radiofrequency thalamotomy and deep brain stimulation techniques for intractable tremor patients with contraindications for surgery. Despite the promising efficacy of gamma knife thalamotomy, however, these studies did not include sufficient follow-up to confirm long-term effects. Herein, we review the radiobiology literature, various techniques, and the treatment efficacy of gamma knife radiosurgery for patients with movement disorders. Future research should focus on randomized controlled studies and long-term effects. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Movement disorders in paraneoplastic and autoimmune disease

PubMed Central

Panzer, Jessica; Dalmau, Josep

2013-01-01

Purpose of review The most relevant advances in immune-mediated movement disorders are described, with emphasis on the clinical–immunological associations, novel antigens, and treatment. Recent findings Many movement disorders previously considered idiopathic or degenerative are now recognized as immune-mediated. Some disorders are paraneoplastic, such as anti-CRMP5-associated chorea, anti-Ma2 hypokinesis and rigidity, anti-Yo cerebellar ataxia and tremor, and anti-Hu ataxia and pesudoathetosis. Other disorders such as Sydenham's chorea, or chorea related to systemic lupus erythematosus and antiphospholipid syndrome occur in association with multiple antibodies, are not paraneoplastic, and are triggered by molecular mimicry or unknown mechanisms. Recent studies have revealed a new category of disorders that can be paraneoplastic or not, and associate with antibodies against cell-surface or synaptic proteins. They include anti-N-methyl-d-aspartate receptor (anti-NMDAR) encephalitis, which may cause dyskinesias, chorea, ballismus or dystonia (NMDAR antibodies), the spectrum of Stiff-person syndrome/muscle rigidity (glutamic acid decarboxylase, amphiphysin, GABAA-receptor-associated protein, or glycine receptor antibodies), neuromyotonia (Caspr2 antibodies), and opsoclonus–myoclonus–ataxia (unknown antigens). Summary Neurologists should be aware that many movement disorders are immune-mediated. Recognition of these disorders is important because it may lead to the diagnosis of an occult cancer, and a substantial number of patients, mainly those with antibodies to cell-surface or synaptic proteins, respond to immunotherapy. PMID:21577108

Genetic Forms of Epilepsies and other Paroxysmal Disorders

PubMed Central

Olson, Heather E.; Poduri, Annapurna; Pearl, Phillip L.

2016-01-01

Genetic mechanisms explain the pathophysiology of many forms of epilepsy and other paroxysmal disorders such as alternating hemiplegia of childhood, familial hemiplegic migraine, and paroxysmal dyskinesias. Epilepsy is a key feature of well-defined genetic syndromes including Tuberous Sclerosis Complex, Rett syndrome, Angelman syndrome, and others. There is an increasing number of singe gene causes or susceptibility factors associated with several epilepsy syndromes, including the early onset epileptic encephalopathies, benign neonatal/infantile seizures, progressive myoclonus epilepsies, genetic generalized and benign focal epilepsies, epileptic aphasias, and familial focal epilepsies. Molecular mechanisms are diverse, and a single gene can be associated with a broad range of phenotypes. Additional features, such as dysmorphisms, head size, movement disorders, and family history may provide clues to a genetic diagnosis. Genetic testing can impact medical care and counseling. We discuss genetic mechanisms of epilepsy and other paroxysmal disorders, tools and indications for genetic testing, known genotype-phenotype associations, the importance of genetic counseling, and a look towards the future of epilepsy genetics. PMID:25192505

Sensory aspects of movement disorders

PubMed Central

Patel, Neepa; Jankovic, Joseph; Hallett, Mark

2016-01-01

Movement disorders, which include disorders such as Parkinson’s disease, dystonia, Tourette’s syndrome, restless legs syndrome, and akathisia, have traditionally been considered to be disorders of impaired motor control resulting predominantly from dysfunction of the basal ganglia. This notion has been revised largely because of increasing recognition of associated behavioural, psychiatric, autonomic, and other non-motor symptoms. The sensory aspects of movement disorders include intrinsic sensory abnormalities and the effects of external sensory input on the underlying motor abnormality. The basal ganglia, cerebellum, thalamus, and their connections, coupled with altered sensory input, seem to play a key part in abnormal sensorimotor integration. However, more investigation into the phenomenology and physiological basis of sensory abnormalities, and about the role of the basal ganglia, cerebellum, and related structures in somatosensory processing, and its effect on motor control, is needed. PMID:24331796

[Variable magnetic fields in the treatment of tics disorders - preliminary results].

PubMed

Pasek, Jarosław; Jędrzejewska, Anna; Jagodziński, Leszek; Obuchowicz, Anna; Flak, Maria; Sieroń, Aleksander

Tics disorders is frequent pathological syndrome, particularly typical for children's age. The symptoms of this disease are differential, and their intensification individualized, which makes difficult unique recognition. Tics disorders concern the most often the muscles of face, head, upper limbs and trunk. The study group consisted of 16 patients (11 boys and 5 girls) with tics complex disorders about unknown etiology particularly relating of face and upper limbs muscles. In the treatment were the interventions with use a magnetotherapy and magnetostimulation applied. The procedures were ones daily by 3 weeks in two series executed. It author's pool was the frequency of occurrence tics disorders as well as the proportional opinion of effectiveness conducted treatment estimated. After 10 weeks in 14 patients was the decrease of occurrence frequency involuntary movements observed, in proportional scale about 75%. The results of subjective opinion of mood showed, that decrease the frequency tics disorders had in all children the direct shift on improvement their mood, and also satisfaction in their parents. The use of variable magnetic fields influenced on decrease the occurrence frequency tics disorders, and also on improvement quality of life the treated patients.

[Variable magnetic fields in the treatment of tics disorders - preliminary results].

PubMed

Pasek, Jarosław; Jędrzejewska, Anna; Jagodziński, Leszek; Obuchowicz, Anna; Flak, Maria; Sieroń, Aleksander

2016-01-01

Tics disorders is frequent pathological syndrome, particularly typical for children's age. The symptoms of this disease are differential, and their intensification individualized, which makes difficult unique recognition. Tics disorders concern the most often the muscles of face, head, upper limbs and trunk. The study group consisted of 16 patients (11 boys and 5 girls) with tics complex disorders about unknown etiology particularly relating of face and upper limbs muscles. In the treatment were the interventions with use a magnetotherapy and magnetostimulation applied. The procedures were ones daily by 3 weeks in two series executed. It author's pool was the frequency of occurrence tics disorders as well as the proportional opinion of effectiveness conducted treatment estimated. After 10 weeks in 14 patients was the decrease of occurrence frequency involuntary movements observed, in proportional scale about 75%. The results of subjective opinion of mood showed, that decrease the frequency tics disorders had in all children the direct shift on improvement their mood, and also satisfaction in their parents. The use of variable magnetic fields influenced on decrease the occurrence frequency tics disorders, and also on improvement quality of life the treated patients.

[Development of sexuality and motivational aspects of sexual behavior in men with obsessive-compulsive disorders].

PubMed

2014-09-01

Sexual behavior and formation of sexuality in men with obsessive-compulsive disorder is one of the pressing issues in contemporary medicine. Obsessive-compulsive disorder is characterized by the development of intrusive thoughts, memories, movements and actions, as well as a variety of pathological fears (phobias). Increase in the number of patients with this pathology in modern clinical practice of neurotic disorders, the young age of the patients and as a result violation of interpersonal, communicational and sexual nature is quite apparent. The study involved 35 men aged 23 to 47 years with clinical signs of OCD. We determined the severity of obsessive-compulsive symptoms using the Yale-Brown scale. We established the presence of a mild degree of disorder in 34,3% of cases; in 48,6% of cases disorder of moderate severity was diagnosed; remaining 17.1% were assessed subclinical condition of OCD at the applicable scale. The system of motivational maintenance of sexual behavior in men with obsessive-compulsive disorders is investigated. Motives of sexual behavior of the investigated men with the pathology are determined. The presented research in men with OCD have established multidimensionality and complexity of motivational ensuring of sexual behavior.

Complex Diagnostic and Treatment Issues in Psychotic Symptoms Associated with Narcolepsy

PubMed Central

Ivanenko, Anna

2009-01-01

Narcolepsy is an uncommon chronic, neurological disorder characterized by abnormal manifestations of rapid eye movement sleep and perturbations in the sleep-wake cycle. Accurate diagnosis of psychotic symptoms in a person with narcolepsy could be difficult due to side effects of stimulant treatment (e.g., hallucinations) as well as primary symptoms of narcolepsy (e.g., sleep paralysis and hypnagogic and/or hypnapompic hallucinations). Pertinent articles from peer-reviewed journals were identified to help understand the complex phenomenology of psychotic symptoms in patients with narcolepsy. In this ensuing review and discussion, we present an overview of narcolepsy and outline diagnostic and management approaches for psychotic symptoms in patients with narcolepsy. PMID:19724760

Effectiveness of low level laser therapy for treating male infertility

PubMed Central

Vladimirovich Moskvin, Sergey; Ivanovich Apolikhin, Oleg

2018-01-01

In half of the cases, the infertility of the couple is due to the disorder of the male fertility. The leading factors that cause male infertility are urogenital infections, disorders of the immune system, testicular and prostate pathology, as well as endocrine disorders. Low level laser therapy (LLLT) is a very effective physical therapy method, used in many areas of medicine, including obstetrics and gynaecology, andrology and urology; and it is recommended as an integral part of the complex treatment of infertility. The literature review showed that LLLT is beneficial in treating male infertility. Laser can significantly improve the survival, motility and speed of movement of spermatozoa. Laser therapy of patients with prostatitis and vesiculitis can eliminate infiltrative-exudative changes, improve reproductive and copulatory functions. Local illumination of red (635 nm) and infrared (904 nm) spectra should be combined with intravenous laser blood illumination (ILBI) of red (635 nm) and ultraviolet (UV) (365 nm) spectra. PMID:29806585

Hypnagogic behavior disorder: complex motor behaviors during wake-sleep transitions in 2 young children.

PubMed

Pareja, Juan A; Cuadrado, María Luz; García-Morales, Irene; Gil-Nagel, Antonio; Franch, Oriol

2008-08-01

A nondescribed behavioral disorder was observed during wake-sleep transitions in 2 young children. Two boys had episodes of abnormal behavior in hypnagogic-and occasionally hypnopompic-periods for 1 year from the time they were 1 year and several months old. The episodes consisted of irregular body movements, which could be either gentle or violent but never made the children get out of bed. They lasted from a few seconds to 2 hours and were associated with poor reactivity and amnesia of the events. Electroencephalography (EEG) recordings showed wake-state features, with brief bursts of hypnagogic hypersynchrony, and did not display seizure activity. A distinctive behavior disorder occurring during wake-sleep transitions with a wake EEG pattern has been identified in very early childhood. The clinical profile does not fit any of the known parasomnias and might belong to a new category of parasomnia.

Therapeutic Developments for Tics and Myoclonus.

PubMed

Jankovic, Joseph

2015-09-15

Tics and myoclonus are phenomenologically similar given that both are jerk-like movements, but, in contrast to myoclonus, tics are often preceded by premonitory sensations and are typically associated with a variety of behavioral comorbidities, including attention deficit and obsessive-compulsive disorder. There are many other clinical features that help differentiate these two hyperkinetic disorders. Whereas behavioral and antidopaminergic therapies are most effective in the management of tics, clonazepam, other anticonvulsants, and serotonergic drugs are often used to control myoclonic movements. Botulinum toxin may also be helpful in focal tics and in segmental forms of myoclonus. DBS plays an increasingly important role in the treatment of these disorders, particularly when they are generalized and are disabling despite optimal medical therapy. © 2015 International Parkinson and Movement Disorder Society.

Basal Ganglia Circuits as Targets for Neuromodulation in Parkinson Disease.

PubMed

DeLong, Mahlon R; Wichmann, Thomas

2015-11-01

The revival of stereotactic surgery for Parkinson disease (PD) in the 1990s, with pallidotomy and then with high-frequency deep brain stimulation (DBS), has led to a renaissance in functional surgery for movement and other neuropsychiatric disorders. To examine the scientific foundations and rationale for the use of ablation and DBS for treatment of neurologic and psychiatric diseases, using PD as the primary example. A summary of the large body of relevant literature is presented on anatomy, physiology, pathophysiology, and functional surgery for PD and other basal ganglia disorders. The signs and symptoms of movement disorders appear to result largely from signature abnormalities in one of several parallel and largely segregated basal ganglia thalamocortical circuits (ie, the motor circuit). The available evidence suggests that the varied movement disorders resulting from dysfunction of this circuit result from propagated disruption of downstream network activity in the thalamus, cortex, and brainstem. Ablation and DBS act to free downstream networks to function more normally. The basal ganglia thalamocortical circuit may play a key role in the expression of disordered movement, and the basal ganglia-brainstem projections may play roles in akinesia and disturbances of gait. Efforts are under way to target circuit dysfunction in brain areas outside of the traditionally implicated basal ganglia thalamocortical system, in particular, the pedunculopontine nucleus, to address gait disorders that respond poorly to levodopa and conventional DBS targets. Deep brain stimulation is now the treatment of choice for many patients with advanced PD and other movement disorders. The success of DBS and other forms of neuromodulation for neuropsychiatric disorders is the result of the ability to modulate circuit activity in discrete functional domains within the basal ganglia circuitry with highly focused interventions, which spare uninvolved areas that are often disrupted with drugs.

Importance of Rapid Eye Movement Sleep Behavior Disorder to the Primary Care Physician.

PubMed

McCarter, Stuart J; Howell, Michael J

2016-10-01

Sleep disorders and neurodegenerative diseases are commonly encountered in primary care. A common, but underdiagnosed sleep disorder, rapid eye movement sleep behavior disorder (RBD), is highly associated with Parkinson disease and related disorders. Rapid eye movement sleep behavior disorder is common. It is estimated to affect 0.5% of the general population and more than 7% of individuals older than 60 years; however, most cases go unrecognized. Rapid eye movement sleep behavior disorder presents as dream enactment, often with patients thrashing, punching, and kicking while they are sleeping. Physicians can quickly assess for the presence of RBD with high sensitivity and specificity by asking patients the question "Have you ever been told that you act out your dreams, for example by punching or flailing your arms in the air or screaming and shouting in your sleep?" Patients with RBD exhibit subtle signs of neurodegenerative disease, such as mild motor slowing, constipation, or changes in sense of smell. These signs and symptoms may predict development of a neurodegenerative disease within 3 years. Ultimately, most patients with RBD develop a neurodegenerative disease, highlighting the importance of serial neurological examinations to assess for the presence of parkinsonism and/or cognitive impairment and prognostic counseling for these patients. Rapid eye movement sleep behavior disorder is treatable with melatonin (3-6 mg before bed) or clonazepam (0.5-1 mg before bed) and may be the most common, reversible cause of sleep-related injury. Thus, it is important to identify patients at risk of RBD in a primary care setting so that bedroom safety can be addressed and treatment may be initiated. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

PubMed

Bögershausen, Nina; Shahrzad, Nassim; Chong, Jessica X; von Kleist-Retzow, Jürgen-Christoph; Stanga, Daniela; Li, Yun; Bernier, Francois P; Loucks, Catrina M; Wirth, Radu; Puffenberger, Eric G; Hegele, Robert A; Schreml, Julia; Lapointe, Gabriel; Keupp, Katharina; Brett, Christopher L; Anderson, Rebecca; Hahn, Andreas; Innes, A Micheil; Suchowersky, Oksana; Mets, Marilyn B; Nürnberg, Gudrun; McLeod, D Ross; Thiele, Holger; Waggoner, Darrel; Altmüller, Janine; Boycott, Kym M; Schoser, Benedikt; Nürnberg, Peter; Ober, Carole; Heller, Raoul; Parboosingh, Jillian S; Wollnik, Bernd; Sacher, Michael; Lamont, Ryan E

2013-07-11

Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features including intellectual disability. Here, we report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with LGMD and in five individuals of Hutterite descent presenting with myopathy, infantile hyperkinetic movements, ataxia, and intellectual disability. By using a combination of whole-exome or genome sequencing with homozygosity mapping, we identified the homozygous c.2938G>A (p.Gly980Arg) missense mutation within the gryzun domain of TRAPPC11 in the Syrian LGMD family and the homozygous c.1287+5G>A splice-site mutation resulting in a 58 amino acid in-frame deletion (p.Ala372_Ser429del) in the foie gras domain of TRAPPC11 in the Hutterite families. TRAPPC11 encodes a component of the multiprotein TRAPP complex involved in membrane trafficking. We demonstrate that both mutations impair the binding ability of TRAPPC11 to other TRAPP complex components and disrupt the Golgi apparatus architecture. Marker trafficking experiments for the p.Ala372_Ser429del deletion indicated normal ER-to-Golgi trafficking but dramatically delayed exit from the Golgi to the cell surface. Moreover, we observed alterations of the lysosomal membrane glycoproteins lysosome-associated membrane protein 1 (LAMP1) and LAMP2 as a consequence of TRAPPC11 dysfunction supporting a defect in the transport of secretory proteins as the underlying pathomechanism. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Technology in Parkinson's disease: Challenges and opportunities.

PubMed

Espay, Alberto J; Bonato, Paolo; Nahab, Fatta B; Maetzler, Walter; Dean, John M; Klucken, Jochen; Eskofier, Bjoern M; Merola, Aristide; Horak, Fay; Lang, Anthony E; Reilmann, Ralf; Giuffrida, Joe; Nieuwboer, Alice; Horne, Malcolm; Little, Max A; Litvan, Irene; Simuni, Tanya; Dorsey, E Ray; Burack, Michelle A; Kubota, Ken; Kamondi, Anita; Godinho, Catarina; Daneault, Jean-Francois; Mitsi, Georgia; Krinke, Lothar; Hausdorff, Jeffery M; Bloem, Bastiaan R; Papapetropoulos, Spyros

2016-09-01

The miniaturization, sophistication, proliferation, and accessibility of technologies are enabling the capture of more and previously inaccessible phenomena in Parkinson's disease (PD). However, more information has not translated into a greater understanding of disease complexity to satisfy diagnostic and therapeutic needs. Challenges include noncompatible technology platforms, the need for wide-scale and long-term deployment of sensor technology (among vulnerable elderly patients in particular), and the gap between the "big data" acquired with sensitive measurement technologies and their limited clinical application. Major opportunities could be realized if new technologies are developed as part of open-source and/or open-hardware platforms that enable multichannel data capture sensitive to the broad range of motor and nonmotor problems that characterize PD and are adaptable into self-adjusting, individualized treatment delivery systems. The International Parkinson and Movement Disorders Society Task Force on Technology is entrusted to convene engineers, clinicians, researchers, and patients to promote the development of integrated measurement and closed-loop therapeutic systems with high patient adherence that also serve to (1) encourage the adoption of clinico-pathophysiologic phenotyping and early detection of critical disease milestones, (2) enhance the tailoring of symptomatic therapy, (3) improve subgroup targeting of patients for future testing of disease-modifying treatments, and (4) identify objective biomarkers to improve the longitudinal tracking of impairments in clinical care and research. This article summarizes the work carried out by the task force toward identifying challenges and opportunities in the development of technologies with potential for improving the clinical management and the quality of life of individuals with PD. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Impairment in emotion perception from body movements in individuals with bipolar I and bipolar II disorder is associated with functional capacity.

PubMed

Vaskinn, Anja; Lagerberg, Trine Vik; Bjella, Thomas D; Simonsen, Carmen; Andreassen, Ole A; Ueland, Torill; Sundet, Kjetil

2017-12-01

Individuals with bipolar disorder present with moderate impairments in social cognition during the euthymic state. The impairment extends to theory of mind and to the perception of emotion in faces and voices, but it is unclear if emotion perception from body movements is affected. The main aim of this study was to examine if participants with bipolar disorder perform worse than healthy control participants on a task using point-light displays of human full figures moving in a manner indicative of a basic emotion (angry, happy, sad, fearful, neutral/no emotion). A secondary research question was whether diagnostic subtypes (bipolar I, bipolar II) and history of psychosis impacted on this type of emotion perception. Finally, symptomatic, neurocognitive, and functional correlates of emotion perception from body movements were investigated. Fifty-three individuals with bipolar I (n = 29) or bipolar II (n = 24) disorder, and 84 healthy control participants were assessed for emotion perception from body movements. The bipolar group also underwent clinical, cognitive, and functional assessment. Research questions were analyzed using analyses of variance and bivariate correlations. The bipolar disorder group differed significantly from healthy control participants for emotion perception from body movements (Cohen's d = 0.40). Analyses of variance yielded no effects of sex, diagnostic subtype (bipolar I, bipolar II), or history of psychosis. There was an effect of emotion, indicating that some emotions are easier to recognize. The lack of a significant group × emotion interaction effect points, however, to this being so regardless of the presence of bipolar disorder. Performance was unrelated to manic and depressive symptom load but showed significant associations with neurocognition and functional capacity. Individuals with bipolar disorder had a small but significant impairment in the ability to perceive emotions from body movement. The impairment was global, i.e., affecting all emotions and equally present for males and females. The impairment was associated with neurocognition and functional capacity, but not symptom load. Our findings identify pathopsychological factors underlying the functional impairment in bipolar disorder and suggest the consideration of social cognition training as part of the treatment for bipolar disorder.

Fundamental movement skills and autism spectrum disorders.

PubMed

Staples, Kerri L; Reid, Greg

2010-02-01

Delays and deficits may both contribute to atypical development of movement skills by children with ASD. Fundamental movement skills of 25 children with autism spectrum disorders (ASD) (ages 9-12 years) were compared to three typically developing groups using the Test of Gross Motor Development (TGMD-2). The group matched on chronological age performed significantly better on the TGMD-2. Another comparison group matched on movement skill demonstrated children with ASD perform similarly to children approximately half their age. Comparisons to a third group matched on mental age equivalence revealed the movement skills of children with ASD are more impaired than would be expected given their cognitive level. Collectively, these results suggest the movement skills of children with ASD reflect deficits in addition to delays.

Pseudobulbar affect: prevalence and quality of life impact in movement disorders.

PubMed

Strowd, Roy E; Cartwright, Michael S; Okun, Michael S; Haq, Ihtsham; Siddiqui, Mustafa S

2010-08-01

Pseudobulbar affect (PBA) is an affective disinhibition syndrome characterized by sudden, involuntary outbursts of inappropriate crying or laughing. We have previously reported the prevalence of PBA in movement disorders using an interviewer-administered questionnaire that had not been validated. In the current study, a validated self-administered screening instrument, the Center for Neurologic Study-Lability Scale (CNS-LS), was used to study the prevalence of PBA, its association with mood symptoms, and the quality of life impact. Two hundred sixty-nine patients met inclusion criteria (consent, age > 18 years, formal diagnosis, and completion of the CNS-LS). The CNS-LS was used to assess PBA at a cutoff score of 17 (utilized from multiple sclerosis studies). The Beck Depression Inventory (BDI) scale and Parkinson's disease questionnaire (PDQ-39) were used to assess depressive symptoms and quality of life. Logistic regression analysis was used to predict associations with PBA. PBA was prevalent in 7.1% (n = 19) of movement disorder patients. No significant difference in prevalence was observed by patient diagnosis: 7.1% (12/168) in Parkinson's disease (PD), 11.4% (4/35) in essential tremor, 0% (0/13) in dystonia, 0% (0/16) in psychogenic movement disorders, and 10.7% (3/28) in patients with other movement disorders. Patients with PBA had higher BDI depression scores (p < 0.0001) and lower PDQ-39 emotional well-being subscores (p < 0.0001). Patients taking antidepressant medications had significantly higher rates of PBA (p = 0.0008). The prevalence of PBA symptoms was 7.1% in PD and all movement disorders patients. Patients with PBA tend to have more depressive symptoms and poorer quality of life.

Do communication disorders extend to musical messages? An answer from children with hearing loss or autism spectrum disorders.

PubMed

Whipple, Christina M; Gfeller, Kate; Driscoll, Virginia; Oleson, Jacob; McGregor, Karla

2015-01-01

Effective musical communication requires conveyance of the intended message in a manner perceptible to the receiver. Communication disorders that impair transmitting or decoding of structural features of music (e.g., pitch, timbre) and/or symbolic representation may result in atypical musical communication, which can have a negative impact on music therapy interventions. This study compared recognition of symbolic representation of emotions or movements in music by two groups of children with different communicative characteristics: severe to profound hearing loss (using cochlear implants [CI]) and autism spectrum disorder (ASD). Their responses were compared to those of children with typical-development and normal hearing (TD-NH). Accuracy was examined as a function of communicative status, emotional or movement category, and individual characteristics. Participants listened to recorded musical excerpts conveying emotions or movements and matched them with labels. Measures relevant to auditory and/or language function were also gathered. There was no significant difference between the ASD and TD-NH groups in identification of musical emotions or movements. However, the CI group was significantly less accurate than the other two groups in identification of both emotions and movements. Mixed effects logistic regression revealed different patterns of accuracy for specific emotions as a function of group. Conveyance of emotions or movements through music may be decoded differently by persons with different types of communication disorders. Because music is the primary therapeutic tool in music therapy sessions, clinicians should consider these differential abilities when selecting music for clinical interventions focusing on emotions or movement. © the American Music Therapy Association 2015. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

[Sleep psychiatry].

PubMed

Chiba, Shigeru

2013-01-01

Sleep disorders are serious issues in modern society. There has been marked scientific interest in sleep for a century, with the discoveries of the electrical activity of the brain (EEG), sleep-wake system, rapid eye movement (REM) sleep, and circadian rhythm system. Additionally, the advent of video-polysomnography in clinical research has revealed some of the consequences of disrupted sleep and sleep deprivation in psychiatric disorders. Decades of clinical research have demonstrated that sleep disorders are intimately tied to not only physical disease (e. g., lifestyle-related disease) but psychiatric illness. According to The International Classification of Sleep Disorders (2005), sleep disorders are classified into 8 major categories: 1) insomnia, 2) sleep-related breathing disorders, 3) hypersomnias of central origin, 4) circadian rhythm sleep disorders, 5) parasomnias, 6) sleep-related movement disorders, 7) isolated symptoms, and 8) other sleep disorders. Several sleep disorders, including obstructive sleep apnea syndrome, restless legs syndrome, periodic limb movement disorder, sleepwalking, REM sleep behavior disorder, and narcolepsy, may be comorbid or possibly mimic numerous psychiatric disorders, and can even occur due to psychiatric pharmacotherapy. Moreover, sleep disorders may exacerbate underlying psychiatric disorders when left untreated. Therefore, psychiatrists should pay attention to the intimate relationship between sleep disorders and psychiatric symptoms. Sleep psychiatry is an academic field focusing on interrelations between sleep medicine and psychiatry. This mini-review summarizes recent findings in sleep psychiatry. Future research on the bidirectional relation between sleep disturbance and psychiatric symptoms will shed light on the pathophysiological view of psychiatric disorders and sleep disorders.

Motor cortex stimulation for movement disorders.

PubMed

Cioni, Beatrice; Tufo, Tommaso; Bentivoglio, Annarita; Trevisi, Gianluca; Piano, Carla

2016-06-01

Motor cortex stimulation (MCS) was introduced by Tsubokawa in 1991 1 for the treatment of thalamic pain, after coming to the conclusion that the hyperactivity of thalamic neurons after spino-thalamic tractotomy was inhibited by stimulation of the motor cortex. MCS has been reported not only to be effective on pain, but also to improve movement disorders such as Parkinson's disease, tremor, dystonia, poststroke movement disorders and hemiparesis. Most of these publications are case reports or small series, and the real impact of MCS on movement disorders remains to be determined. In order to clarify this point, we conducted a PubMed search from 1991 to 2016 using established MeSH words. A total of 40 papers were selected and examined. Furthermore, personal experience with MCS for Parkinson's disease and akinesia, is reported. Only four studies were randomized controlled clinical trials: three out of four failed to demonstrate the efficacy of MCS at short term. At long term, MCS seems to show a clinical positive effect in the studies prolonged in an open observational trial.

Sleep-Related Rhythmic Movement Disorder and Obstructive Sleep Apnea in Five Adult Patients

PubMed Central

Chiaro, Giacomo; Maestri, Michelangelo; Riccardi, Silvia; Haba-Rubio, José; Miano, Silvia; Bassetti, Claudio L.; Heinzer, Raphaël C.; Manconi, Mauro

2017-01-01

Sleep-related rhythmic movements (SRRMs) are typical in infancy and childhood, where they usually occur at the wake-to-sleep transition. However, they have rarely been observed in adults, where they can be idiopathic or associated with other sleep disorders including sleep apnea. We report a case series of 5 adults with sleep-related rhythmic movement disorder, 4 of whom had a previous history of SRRMs in childhood. SRRMs mostly occurred in consolidated sleep, in association with pathological respiratory events, predominantly longer ones, especially during stage R sleep, and recovered in 1 patient with continuous positive airway pressure therapy. We hypothesize that sleep apneas may act as a trigger of rhythmic motor events through a respiratory-related arousal mechanism in genetically predisposed subjects. Citation: Chiaro G, Maestri M, Riccardi S, Haba-Rubio J, Miano S, Bassetti CL, Heinzer RC, Manconi M. Sleep-related rhythmic movement disorder and obstructive sleep apnea in five adult patients. J Clin Sleep Med. 2017;13(10):1213–1217. PMID:28859719

Aging and Parkinson's disease: Different sides of the same coin?

PubMed

Collier, Timothy J; Kanaan, Nicholas M; Kordower, Jeffrey H

2017-07-01

Despite abundant epidemiological evidence in support of aging as the primary risk factor for PD, biological correlates of a connection have been elusive. In this article, we address the following question: does aging represent biology accurately characterized as pre-PD? We present evidence from our work on midbrain dopamine neurons of aging nonhuman primates that demonstrates that markers of known correlates of dopamine neuron degeneration in PD, including impaired proteasome/lysosome function, oxidative/nitrative damage, and inflammation, all increase with advancing age and are exaggerated in the ventral tier substantia nigra dopamine neurons most vulnerable to degeneration in PD. Our findings support the view that aging-related changes in the dopamine system approach the biological threshold for parkinsonism, actively producing a vulnerable pre-parkinsonian state. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Targeted therapies for Parkinson's disease: From genetics to the clinic.

PubMed

Sardi, S Pablo; Cedarbaum, Jesse M; Brundin, Patrik

2018-04-27

The greatest unmet medical need in Parkinson's disease (PD) is treatments that slow the relentless progression of symptoms. The discovery of genetic variants causing and/or increasing the risk for PD has provided the field with a new arsenal of potential therapies ready to be tested in clinical trials. We highlight 3 of the genetic discoveries (α-synuclein, glucocerebrosidase, and leucine-rich repeat kinase) that have prompted new therapeutic approaches now entering the clinical stages. We are at an exciting juncture in the journey to developing disease-modifying treatments based on knowledge of PD genetics and pathology. This review focuses on therapeutic paradigms that are under clinical development and highlights a wide range of key outstanding questions in PD. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.

PubMed

Byrne, Susan; Dlamini, Nomazulu; Lumsden, Daniel; Pitt, Matthew; Zaharieva, Irina; Muntoni, Francesco; King, Andrew; Robert, Leema; Jungbluth, Heinz

2015-07-01

Marinesco-Sjoegren syndrome (MSS) is a recessively inherited multisystem disorder caused by mutations in SIL1 and characterized by cerebellar atrophy with ataxia, cataracts, a skeletal muscle myopathy, and variable degrees of developmental delay. Pathogenic mechanisms implicated to date include mitochondrial, nuclear envelope and lysosomal-autophagic pathway abnormalities. Here we present a 5-year-old girl with SIL1-related MSS and additional unusual features of an associated motor neuronopathy and a bradykinetic movement disorder preceding the onset of ataxia. These findings suggest that an associated motor neuronopathy may be part of the phenotypical spectrum of SIL1-related MSS and should be actively investigated in genetically confirmed cases. The additional observation of a bradykinetic movement disorder suggests an intriguing continuum between neurodevelopmental and neurodegenerative multisystem disorders intricately linked in the same cellular pathways. Copyright © 2015 Elsevier B.V. All rights reserved.

Receptive Vocabulary Knowledge in Low-Functioning Autism as Assessed by Eye Movements, Pupillary Dilation, and Event-Related Potentials

DTIC Science & Technology

2012-06-01

for Asperger Syndrome and other high-functioning autism spectrum disorders in school age children. Journal of Autism & Developmental Disorders, 29...Functioning Autism as Assessed by Eye Movements, Pupillary Dilation, and Event-Related Potentials PRINCIPAL INVESTIGATOR: Barry Gordon...Knowledge in Low-Functioning Autism as Assessed by Eye- Movements, Pupillary Dilation, and Event-Related Potentials 5b. GRANT NUMBER W81XWH-10-1-0404

Backbone ¹H, ¹³C, ¹⁵N NMR assignments of yeast OMP synthase in unliganded form and in complex with orotidine 5'-monophosphate.

PubMed

Hansen, Michael Riis; Harris, Richard; Barr, Eric W; Cheng, Hong; Girvin, Mark E; Grubmeyer, Charles

2014-04-01

The type I phosphoribosyltransferase OMP synthase (EC 2.4.2.10) is involved in de novo synthesis of pyrimidine nucleotides forming the UMP precursor orotidine 5'-monophosphate (OMP). The homodimeric enzyme has a Rossman α/β core topped by a base-enclosing "hood" domain and a flexible domain-swapped catalytic loop. High-resolution X-ray structures of the homologous Salmonella typhimurium and yeast enzymes show that a general compacting of the core as well as movement of the hood and a major disorder-to-order transition of the loop occur upon binding of ligands MgPRPP and orotate. Here we present backbone NMR assignments for the unliganded yeast enzyme (49 kDa) and its complex with product OMP. We were able to assign 212-213 of the 225 non-proline backbone (15)N and amide proton resonances. Significant difference in chemical shifts of the amide cross peaks occur in regions of the structure that undergo movement upon ligand occupancy in the S. typhimurium enzyme.

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

PubMed

O'Rourke, Declan J; Ryan, Stephanie; Salomons, Gajja; Jakobs, Cornelis; Monavari, Ahmad; King, Mary D

2009-05-01

Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes.We report the clinical, biochemical, imaging, and treatment data of two female siblings (18y and 13y) with an unusual phenotype of GAMT deficiency. The oldest sibling had subacute onset of a movement disorder at age 17 years, later than has been previously reported. The younger sibling had better language skills than previously described in this disorder. After treatment with creatine, arginine restriction and ornithine-supplemented diet, seizure severity and movement disorder were reduced but cognition did not improve. This report confirms that GAMT deficiency, a heterogeneous, potentially treatable disorder, detected by increased levels of guanidinoacetate in body fluids (e.g. plasma or urine) or by an abnormal creatine peak on magnetic resonance spectroscopy, should be considered in patients of any age with unexplained, apparently static learning disability and epilepsy.

Dissociation predicts treatment response in eye-movement desensitization and reprocessing for posttraumatic stress disorder.

PubMed

Bae, Hwallip; Kim, Daeho; Park, Yong Chon

2016-01-01

Using clinical data from a specialized trauma clinic, this study investigated pretreatment clinical factors predicting response to eye-movement desensitization and reprocessing (EMDR) among adult patients diagnosed with posttraumatic stress disorder (PTSD). Participants were evaluated using the Clinician-Administered PTSD Scale (CAPS), the Symptom Checklist-90-Revised, the Beck Depression Inventory, and the Dissociative Experiences Scale before treatment and were reassessed using the CAPS after treatment and at 6-month follow-up. A total of 69 patients underwent an average of 4 sessions of EMDR, and 60 (87%) completed the posttreatment evaluation, including 8 participants who terminated treatment prematurely. Intent-to-treat analysis revealed that 39 (65%) of the 60 patients were classified as responders and 21 (35%) as nonresponders when response was defined as more than a 30% decrease in total CAPS score. The nonresponders had higher levels of dissociation (depersonalization and derealization) and numbing symptoms, but other PTSD symptoms, such as avoidance, hyperarousal, and intrusion, were not significantly different. The number of psychiatric comorbidities was also associated with treatment nonresponse. The final logistic regression model yielded 2 significant variables: dissociation (p < .001) and more than 2 comorbidities compared to none (p < .05). These results indicate that complex symptom patterns in PTSD may predict treatment response and support the inclusion of the dissociative subtype of PTSD in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition.

Validation of the MDS research criteria for prodromal Parkinson's disease: Longitudinal assessment in a REM sleep behavior disorder (RBD) cohort.

PubMed

Fereshtehnejad, Seyed-Mohammad; Montplaisir, Jacques Y; Pelletier, Amelie; Gagnon, Jean-François; Berg, Daniela; Postuma, Ronald B

2017-06-01

Recently, the International Parkinson and Movement Disorder Society introduced the prodromal criteria for PD. Objectives Our study aimed to examine diagnostic accuracy of the criteria as well as the independence of prodromal markers to predict conversion to PD or dementia with Lewy bodies. This prospective cohort study was performed on 121 individuals with rapid eye movement sleep behavior disorder who were followed annually for 1 to 12 years. Using data from a comprehensive panel of prodromal markers, likelihood ratio and post-test probability of the criteria were calculated at baseline and during each follow-up visit. Forty-eight (39.7%) individuals with rapid eye movement sleep behavior disorder converted to PD/dementia with Lewy bodies. The prodromal criteria had 81.3% sensitivity and 67.9% specificity for conversion to PD/dementia with Lewy bodies at 4-year follow-up. One year before conversion, sensitivity was 100%. The criteria predicted dementia with Lewy bodies with even higher accuracy than PD without dementia at onset. Those who met the threshold of prodromal criteria at baseline had significantly more rapid conversion into a neurodegenerative state (4.8 vs. 9.1 years; P < 0.001). Pair-wise combinations of different prodromal markers showed that markers were independent of one another. The prodromal criteria are a promising tool for predicting incidence of PD/dementia with Lewy bodies and conversion time in a rapid eye movement sleep behavior disorder cohort, with high sensitivity and high specificity with long follow-up. Prodromal markers influence the overall likelihood ratio independently, allowing them to be reliably multiplied. Defining additional markers with high likelihood ratio, further studies with longitudinal assessment and testing thresholds in different target populations will improve the criteria. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Innovations in deep brain stimulation methodology.

PubMed

Kühn, Andrea A; Volkmann, Jens

2017-01-01

Deep brain stimulation is a powerful clinical method for movement disorders that no longer respond satisfactorily to pharmacological management, but its progress has been hampered by stagnation in technological procedure solutions and device development. Recently, the combined research efforts of bioengineers, neuroscientists, and clinicians have helped to better understand the mechanisms of deep brain stimulation, and solutions for the translational roadblock are emerging. Here, we define the needs for methodological advances in deep brain stimulation from a neurophysiological perspective and describe technological solutions that are currently evaluated for near-term clinical application. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Trihexyphenidyl for acute life-threatening episodes due to a dystonic movement disorder in Rett syndrome.

PubMed

Gika, Artemis D; Hughes, Elaine; Goyal, Sushma; Sparkes, Matthew; Lin, Jean-Pierre

2010-02-15

In Rett syndrome (RS), acute life-threatening episodes (ALTEs) are usually attributed to epilepsy or autonomic dysfunction but they can represent a movement disorder (MD). We describe three girls with RS who experienced ALTEs from an early age. These were long considered epileptic until video-EEG in Patients 1 and 3 revealed their non-epileptic nature. A primary dystonic mechanism was suspected and Patients 1 and 2 were treated with Trihexyphenidyl with significantly reduced frequency of the ALTEs. Patient 3 died before Trihexyphenidyl was tried. Trihexyphenidyl in RS patients with similar presentations can modify the dystonia and prevent ALTEs. (c) 2009 Movement Disorder Society.

Neurodevelopmental movement disorders - an update on childhood motor stereotypies.

PubMed

Barry, Sinéad; Baird, Gillian; Lascelles, Karine; Bunton, Penny; Hedderly, Tammy

2011-11-01

The term 'stereotypies' encompasses a diverse range of movements, behaviours, and/or vocalizations that are repetitive, lack clear function, and sometimes appear to have a negative impact upon an individual's life. This review aims to describe motor stereotypies. This study reviewed the current literature on the nature, aetiology, and treatment of motor stereotypies. Motor stereotypies occur commonly but not exclusively in autistic spectrum disorders. Similar movements are also found in otherwise healthy children and those suffering sensory impairment, social isolation, or severe intellectual disabilities; they may be persistent over time. Although often difficult, it is possible to define and differentiate stereotypies from other movement disorders such as tics through features of the history, such as earlier onset and examination, together with the presence or absence of associated neurological impairment or developmental difficulties. Co-occurrence with other disorders affecting frontostriatal brain systems, including attention-deficit-hyperactivity disorder, obsessive-compulsive disorder, and tic disorders, is common. The underlying function of motor stereotypies remains unclear but may include the maintenance of arousal levels. A neurogenetic aetiology is proposed but requires further study. When treatment is sought, there are both pharmacological and behavioural options. Behavioural treatments for motor stereotypies may in time be shown to be most effective; however, they are difficult to implement in children younger than 7 years old. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

Eye Movement in Unipolar and Bipolar Depression: A Systematic Review of the Literature

PubMed Central

Carvalho, Nicolas; Laurent, Eric; Noiret, Nicolas; Chopard, Gilles; Haffen, Emmanuel; Bennabi, Djamila; Vandel, Pierre

2015-01-01

Background: The analysis of eye movements (EM) by eye-tracking has been carried out for several decades to investigate mood regulation, emotional information processing, and psychomotor disturbances in depressive disorders. Method: A systematic review of all English language PubMed articles using the terms “saccadic eye movements” OR “eye-tracking” AND “depression” OR “bipolar disorders” was conducted using PRISMA guidelines. The aim of this review was to characterize the specific alterations of EM in unipolar and bipolar depression. Results: Findings regarding psychomotor disturbance showed an increase in reaction time in prosaccade and antisaccade tasks in both unipolar and bipolar disorders. In both disorders, patients have been reported to have an attraction for negative emotions, especially for negative pictures in unipolar and threatening images in bipolar disorder. However, the pattern could change with aging, elderly unipolar patients disengaging key features of sad and neutral stimuli. Methodological limitations generally include small sample sizes with mixed unipolar and bipolar depressed patients. Conclusion: Eye movement analysis can be used to discriminate patients with depressive disorders from controls, as well as patients with bipolar disorder from patients with unipolar depression. General knowledge concerning psychomotor alterations and affective regulation strategies associated with each disorder can also be gained thanks to the analysis. Future directions for research on eye movement and depression are proposed in this review. PMID:26696915

DSM-IV stereotypic movement disorder: persistence of stereotypies of infancy in intellectually normal adolescents and adults.

PubMed

Castellanos, F X; Ritchie, G F; Marsh, W L; Rapoport, J L

1996-03-01

As part of a broader series of studies on unwanted repetitive behaviors, DSM-IV stereotypic movement disorder (SMD) was examined in an intellectually normal population. Repetitive nonfunctional behaviors, or stereotypies, are expressed during early normal development but have not been described in adults without severe psychiatric or intellectual impairment. Lifetime and current psychiatric Axis I diagnoses were determined by structured and clinical interviews in subjects who responded to a newspaper advertisement that specifically mentioned rocking and head banging. Of 52 potential subjects who were screened by telephone, 32 had been previously diagnosed with an Axis I psychiatric disorder, which presumably accounted for the repetitive behavior, or were otherwise excluded. Of 20 who were interviewed in person, 12 met DSM-IV criteria for SMD; rocking or thumb sucking was present in 8 of these 12. Four of 8 rockers had a first-degree relative who had a lifetime history of a similar repetitive behavior. A lifetime history of an affective or anxiety disorder was found for 11 of 12 SMD subjects. DSM-IV stereotypic movement disorder can be diagnosed in intellectually normal individuals. Although sampling bias was probable, prominent stereotypies in individuals meeting the DSM-IV criteria for stereotypic movement disorder, which are narrower than the DSM-III-R criteria for stereotypy/habit disorder, seem likely to include rocking and thumb sucking. The likelihood of persistence of these behaviors, which are developmentally appropriate in infancy, may be enhanced by comorbidity with anxiety or affective disorders.

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.

PubMed

Fernández-Marmiesse, Ana; Kusumoto, Hirofumi; Rekarte, Saray; Roca, Iria; Zhang, Jin; Myers, Scott J; Traynelis, Stephen F; Couce, Mª Luz; Gutierrez-Solana, Luis; Yuan, Hongjie

2018-04-11

Mutations in the GRIN2A gene, which encodes the GluN2A (glutamate [NMDA] receptor subunit epsilon-1) subunit of the N-methyl-d-aspartate receptor, have been identified in patients with epilepsy-aphasia spectrum disorders, idiopathic focal epilepsies with centrotemporal spikes, and epileptic encephalopathies with severe developmental delay. However, thus far, mutations in this gene have not been associated with a nonepileptic neurodevelopmental disorder with dystonia. The objective of this study was to identify the disease-causing gene in 2 siblings with neurodevelopmental and movement disorders with no epileptiform abnormalities. The study method was targeted next-generation sequencing panel for neuropediatric disorders and subsequent electrophysiological studies. The 2 siblings carry a novel missense mutation in the GRIN2A gene (p.Ala643Asp) that was not detected in genomic DNA isolated from blood cells of their parents, suggesting that the mutation is the consequence of germinal mosaicism in 1 progenitor. In functional studies, the GluN2A-A643D mutation increased the potency of the agonists L-glutamate and glycine and decreased the potency of endogenous negative modulators, including protons, magnesium and zinc but reduced agonist-evoked peak current response in mammalian cells, suggesting that this mutation has a mixed effect on N-methyl-d-aspartate receptor function. De novo GRIN2A mutations can give rise to a neurodevelopmental and movement disorder without epilepsy. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

Interhemispheric Control of Unilateral Movement

PubMed Central

Beaulé, Vincent; Tremblay, Sara; Théoret, Hugo

2012-01-01

To perform strictly unilateral movements, the brain relies on a large cortical and subcortical network. This network enables healthy adults to perform complex unimanual motor tasks without the activation of contralateral muscles. However, mirror movements (involuntary movements in ipsilateral muscles that can accompany intended movement) can be seen in healthy individuals if a task is complex or fatiguing, in childhood, and with increasing age. Lateralization of movement depends on complex interhemispheric communication between cortical (i.e., dorsal premotor cortex, supplementary motor area) and subcortical (i.e., basal ganglia) areas, probably coursing through the corpus callosum (CC). Here, we will focus on transcallosal interhemispheric inhibition (IHI), which facilitates complex unilateral movements and appears to play an important role in handedness, pathological conditions such as Parkinson's disease, and stroke recovery. PMID:23304559

[Evaluation and treatment of sleep problems in children diagnosed with attention deficit hyperactivity disorder: an update of the evidence].

PubMed

Chamorro, M; Lara, J P; Insa, I; Espadas, M; Alda-Diez, J A

2017-05-01

Attention deficit hyperactivity disorder (ADHD) affects approximately 5% of all children and adolescents, and these patients frequently suffer from sleep problems. The association between sleep disorders and ADHD, however, is multifaceted and complex. To explore the relationship between sleep disorders and ADHD. Sleep problems in children with ADHD include altered sleep and specific disorders per se or that may be due to comorbid psychiatric disorders or to the stimulants they receive as treatment for their ADHD. Today, an evaluation of the sleep conditions in children with ADHD is recommended before starting pharmacological treatment. The first step in managing their sleep problems is good sleep hygiene and cognitive-behavioural psychotherapy. Another option is to consider modifying the dosage and formulation of the stimulants. Atomoxetine and melatonin are therapeutic alternatives for children with ADHD and more severe sleep problems. Specific treatments exist for respiratory and movement disorders during sleep. It is important to evaluate sleep in children who present symptoms suggestive of ADHD, since problems during sleep can play a causal role or exacerbate the clinical features of ADHD. Correct evaluation and treatment of sleep disorders increase the family's and the child's quality of life and can lessen the severity of the symptoms of ADHD.

Preterm birth and developmental problems in the preschool age. Part I: minor motor problems.

PubMed

Ferrari, Fabrizio; Gallo, Claudio; Pugliese, Marisa; Guidotti, Isotta; Gavioli, Sara; Coccolini, Elena; Zagni, Paola; Della Casa, Elisa; Rossi, Cecilia; Lugli, Licia; Todeschini, Alessandra; Ori, Luca; Bertoncelli, Natascia

2012-11-01

Nearly half of very preterm (VP) and extremely preterm (EP) infants suffers from minor disabilities. The paper overviews the literature dealing with motor problems other than cerebral palsy (CP) during infancy and preschool age. The term "minor motor problems" indicates a wide spectrum of motor disorders other than CP; "minor" does not mean "minimal", as a relevant proportion of the preterm infants will develop academic and behavioural problems at school age. Early onset disorders consist of abnormal general movements (GMs), transient dystonia and postural instability; these conditions usually fade during the first months. They were underestimated in the past; recently, qualitative assessment of GMs using Prechtl's method has become a major item of the neurological examination. Late onset disorders include developmental coordination disorder (DCD) and/or minor neurological dysfunction (MND): both terms cover partly overlapping problems. Simple MND (MND-1) and complex MND (MND-2) can be identified and MND-2 gives a higher risk for learning and behavioural disorders. A relationship between the quality of GMs and MND in childhood has been recently described. The Touwen infant neurological examination (TINE) can reliably detect neurological signs of MND even in infancy. However, the prognostic value of these disorders requires further investigations.

A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

PubMed

Dhamija, Radhika; Goodkin, Howard P; Bailey, Russell; Chambers, Chelsea; Brenton, J Nicholas

2017-12-01

The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Initial diagnostic testing did not explain his abnormalities; however, given the suspicion for a channelopathy, whole exome sequencing was performed and it demonstrated a de novo pathogenic heterozygous variant in KCNQ2. There is an expanding phenotypic spectrum of heterozygous alterations in KCNQ2; however, this report provides the first description of a pathogenic KCNQ2 variant fever-induced hyperkinetic movement disorder in childhood. We also review the literature of cases previously published with the same pathogenic variant.

Fundamental movement skills and children with attention-deficit hyperactivity disorder: peer comparisons and stimulant effects.

PubMed

Harvey, William J; Reid, Greg; Grizenko, Natalie; Mbekou, Valentin; Ter-Stepanian, Marina; Joober, Ridha

2007-10-01

The purpose of this study was to compare the fundamental movement skills of 22 children with attention-deficit hyperactivity disorder (ADHD), from 6 to 12 years of age, to gender- and age-matched peers without ADHD and assess the effects of stimulant medication on the movement skill performance of the children with ADHD. Repeated measures analyses revealed significant skill differences between children with and without ADHD (p

Downbeat nystagmus due to ranitidine in a pediatric patient.

PubMed

Butragueño Laiseca, Laura; Toledo Del Castillo, Blanca; Rodríguez Jimenez, Cristina; Manrique-Rodríguez, Silvia; Pérez Moreno, Jimena

2017-07-01

Ranitidine has not been considered as a potential cause of ocular movement conditions. However, it is known that the vestibular nucleus complex, that has a key role in gaze control and vestibule-ocular reflexes, receives hypothalamic histaminergic innervations. Some studies reported the effect of ranitidine blocking the excitatory responses of vestibular nuclei neurons to histamine. We report the first case of a downbeat nystagmus secondary to ranitidine in an infant. A 3-month-old female developed a downbeat gaze after starting treatment with ranitidine for a pediatric gastroesophageal reflux disease. Microbiological test were negative and neuroblastoma evaluation was normal. As ranitidine is widely prescribed in the pediatric population, clinicians should be aware of its potential to cause ocular movements disorders. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Impaired Awareness of Movement Disorders in Parkinson's Disease

ERIC Educational Resources Information Center

Amanzio, Martina; Monteverdi, Silvia; Giordano, Alessandra; Soliveri, Paola; Filippi, Paola; Geminiani, Giuliano

2010-01-01

Background: This study analyzed the presence of awareness of movement disorders (dyskinesias and hypokinesias) in 25 patients with Parkinson's disease (PD) and motor fluctuations (dyskinesias, wearing off, on-off fluctuations). Of the few studies that have dealt with this topic, none have analyzed the differences in the awareness of motor deficits…

Ketotic hyperglycemia with movement disorder

PubMed Central

Awasthi, Disha; Tiwari, Akhilesh Kumar; Upadhyaya, Abhinav; Singh, Balwinder; Tomar, Gaurav Singh

2012-01-01

Chorea, hemichorea-hemiballismus and severe partial seizures may be the presenting features of nonketotic hyperglycemia in older adults with type 2 diabetes, but cases in young adults with type 1 diabetes are rare. We hereby report a very rare case of diabetic ketosis with movement disorder in a young patient. PMID:22416165

Pulmonary Function in Children with Development Coordination Disorder

ERIC Educational Resources Information Center

Wu, Sheng K.; Cairney, John; Lin, Hsiao-Hui; Li, Yao-Chuen; Song, Tai-Fen

2011-01-01

The purpose of this study was to compare pulmonary function in children with developmental coordination disorder (DCD) with children who are typically developing (TD), and also analyze possible gender differences in pulmonary function between these groups. The Movement ABC test was used to identify the movement coordination ability of children.…

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective.

PubMed

Dy, Marisela E; Waugh, Jeff L; Sharma, Nutan; O'Leary, Heather; Kapur, Kush; D'Gama, Alissa M; Sahin, Mustafa; Urion, David K; Kaufmann, Walter E

2017-10-01

Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (RTT) but are difficult to characterize and quantify systematically. We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS. Copyright © 2017 Elsevier Inc. All rights reserved.

Interaction without intent: the shape of the social world in Huntington’s disease

PubMed Central

Rickards, Hugh E.

2015-01-01

Huntington’s disease (HD) is an inherited neurodegenerative condition. Patients with this movement disorder can exhibit deficits on tasks involving Theory of Mind (ToM): the ability to understand mental states such as beliefs and emotions. We investigated mental state inference in HD in response to ambiguous animations involving geometric shapes, while exploring the impact of symptoms within cognitive, emotional and motor domains. Forty patients with HD and twenty healthy controls described the events in videos showing random movements of two triangles (i.e. floating), simple interactions (e.g. following) and more complex interactions prompting the inference of mental states (e.g. one triangle encouraging the other). Relationships were explored between animation interpretation and measures of executive functioning, alexithymia and motor symptoms. Individuals with HD exhibited alexithymia and a reduced tendency to spontaneously attribute intentions to interacting triangles on the animations task. Attribution of intentions on the animations task correlated with motor symptoms and burden of pathology. Importantly, patients without motor symptoms showed similar ToM deficits despite intact executive functions. Subtle changes in ToM that are unrelated to executive dysfunction could therefore feature in basal ganglia disorders prior to motor onset. PMID:25680992

Are Weight Status and Cognition Associated? An Examination of Cognitive Development in Children and Adolescents with Anorexia Nervosa 1 Year after First Hospitalisation.

PubMed

Kjaersdam Telléus, Gry; Fagerlund, Birgitte; Jepsen, Jens Richardt; Bentz, Mette; Christiansen, Eva; Valentin, Jan Brink; Thomsen, Per Hove

2016-09-01

The aim of this study was to characterise the association between the cognitive profile and weight restoration in children and adolescents with anorexia nervosa. The study was a longitudinal, matched case-control, multicentre study. An assessment of cognitive functions was conducted by using the Wechsler Intelligence Scale for Children-III/the Wechsler Adult Intelligence Scale-III, the Test of Memory and Learning-second edition, Trail Making Tests A and B, the Rey-Osterrieth Complex Figure Test and the Cambridge Neuropsychological Test Automated Battery. One hundred twenty individuals, 60 patients with anorexia nervosa with mean age of 14.65 (SD 1.820) years and 60 healthy controls with mean age of 14.76 (SD 1.704) years, participated. No association was found between weight recovery and cognitive functions. However, a significant increase in motor speed was found in Trail Making Test A (p = 0.004), Reaction Time (RTI) five-choice movement time (p = 0.002) and RTI simple movement time (p = 0.011), resulting in a normalisation corresponding to that found in healthy controls. Furthermore, a significantly lower score in the perceptual organization index (p = 0.029) was found at follow-up. Weight recovery appears not to be associated with cognition. Copyright © 2016 The Authors European Eating Disorders Review published by Eating Disorders Association and John Wiley & Sons Ltd. Copyright © 2016 The Authors European Eating Disorders Review published by Eating Disorders Association and John Wiley & Sons Ltd.

Phenotype- and genotype-specific structural alterations in spasmodic dysphonia.

PubMed

Bianchi, Serena; Battistella, Giovanni; Huddleston, Hailey; Scharf, Rebecca; Fleysher, Lazar; Rumbach, Anna F; Frucht, Steven J; Blitzer, Andrew; Ozelius, Laurie J; Simonyan, Kristina

2017-04-01

Spasmodic dysphonia is a focal dystonia characterized by involuntary spasms in the laryngeal muscles that occur selectively during speaking. Although hereditary trends have been reported in up to 16% of patients, the causative etiology of spasmodic dysphonia is unclear, and the influences of various phenotypes and genotypes on disorder pathophysiology are poorly understood. In this study, we examined structural alterations in cortical gray matter and white matter integrity in relationship to different phenotypes and putative genotypes of spasmodic dysphonia to elucidate the structural component of its complex pathophysiology. Eighty-nine patients with spasmodic dysphonia underwent high-resolution magnetic resonance imaging and diffusion-weighted imaging to examine cortical thickness and white matter fractional anisotropy in adductor versus abductor forms (distinct phenotypes) and in sporadic versus familial cases (distinct genotypes). Phenotype-specific abnormalities were localized in the left sensorimotor cortex and angular gyrus and the white matter bundle of the right superior corona radiata. Genotype-specific alterations were found in the left superior temporal gyrus, supplementary motor area, and the arcuate portion of the left superior longitudinal fasciculus. Our findings suggest that phenotypic differences in spasmodic dysphonia arise at the level of the primary and associative areas of motor control, whereas genotype-related pathophysiological mechanisms may be associated with dysfunction of regions regulating phonological and sensory processing. Identification of structural alterations specific to disorder phenotype and putative genotype provides an important step toward future delineation of imaging markers and potential targets for novel therapeutic interventions for spasmodic dysphonia. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Molecular imaging to track Parkinson's disease and atypical parkinsonisms: New imaging frontiers.

PubMed

Strafella, Antonio P; Bohnen, Nicolaas I; Perlmutter, Joel S; Eidelberg, David; Pavese, Nicola; Van Eimeren, Thilo; Piccini, Paola; Politis, Marios; Thobois, Stephane; Ceravolo, Roberto; Higuchi, Makoto; Kaasinen, Valtteri; Masellis, Mario; Peralta, M Cecilia; Obeso, Ignacio; Pineda-Pardo, Jose Ángel; Cilia, Roberto; Ballanger, Benedicte; Niethammer, Martin; Stoessl, Jon A

2017-02-01

Molecular imaging has proven to be a powerful tool for investigation of parkinsonian disorders. One current challenge is to identify biomarkers of early changes that may predict the clinical trajectory of parkinsonian disorders. Exciting new tracer developments hold the potential for in vivo markers of underlying pathology. Herein, we provide an overview of molecular imaging advances and how these approaches help us to understand PD and atypical parkinsonisms. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Revisiting the Corticomotor Plasticity in Low Back Pain: Challenges and Perspectives

PubMed Central

Massé-Alarie, Hugo; Schneider, Cyril

2016-01-01

Chronic low back pain (CLBP) is a recurrent debilitating condition that costs billions to society. Refractoriness to conventional treatment, lack of improvement, and associated movement disorders could be related to the extensive brain plasticity present in this condition, especially in the sensorimotor cortices. This narrative review on corticomotor plasticity in CLBP will try to delineate how interventions such as training and neuromodulation can improve the condition. The review recommends subgrouping classification in CLBP owing to brain plasticity markers with a view of better understanding and treating this complex condition. PMID:27618123

Cerebral blood flow during paroxysmal EEG activation induced by sleep in patients with complex partial seizures

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gozukirmizi, E.; Meyer, J.S.; Okabe, T.

1982-01-01

Cerebral blood flow (CBF) measurements were combined with sleep polysomnography in nine patients with complex partial seizures. Two methods were used: the 133Xe method for measuring regional (rCBF) and the stable xenon CT method for local (LCBF). Compared to nonepileptic subjects, who show diffuse CBF decreases during stages I-II, non-REM sleep onset, patients with complex partial seizures show statistically significant increases in CBF which are maximal in regions where the EEG focus is localized and are predominantly seen in one temporal region but are also propagated to other cerebral areas. Both CBF methods gave comparable results, but greater statistical significancemore » was achieved by stable xenon CT methodology. CBF increases are more diffuse than predicted by EEG paroxysmal activity recorded from scalp electrodes. An advantage of the 133Xe inhalation method was achievement of reliable data despite movement of the head. This was attributed to the use of a helmet which maintained the probes approximated to the scalp. Disadvantages were poor resolution (7 cm3) and two-dimensional information. The advantage of stable xenon CT method is excellent resolution (80 mm3) in three dimensions, but a disadvantage is that movement of the head in patients with seizure disorders may limit satisfactory measurements.« less

FAK is required for tension-dependent organization of collective cell movements in Xenopus mesendoderm

PubMed Central

Bjerke, Maureen A.; Dzamba, Bette; Wang, Chong; DeSimone, Douglas W.

2014-01-01

Collective cell movements are integral to biological processes such as embryonic development and wound healing and also have a prominent role in some metastatic cancers. In migrating Xenopus mesendoderm, traction forces are generated by cells through integrin-based adhesions and tension transmitted across cadherin adhesions. This is accompanied by assembly of a mechanoresponsive cadherin adhesion complex containing keratin intermediate filaments and the catenin-family member plakoglobin. We demonstrate that focal adhesion kinase (FAK), a major component of integrin adhesion complexes, is required for normal morphogenesis at gastrulation, closure of the anterior neural tube, axial elongation and somitogenesis. Depletion of zygotically expressed FAK results in disruption of mesendoderm tissue polarity similar to that observed when expression of keratin or plakoglobin is inhibited. Both individual and collective migrations of mesendoderm cells from FAK depleted embryos are slowed, cell protrusions are disordered, and cell spreading and traction forces are decreased. Additionally, keratin filaments fail to organize at the rear of cells in the tissue and association of plakoglobin with cadherin is diminished. These findings suggest that FAK is required for the tension-dependent assembly of the cadherin adhesion complex that guides collective mesendoderm migration, perhaps by modulating the dynamic balance of substrate traction forces and cell cohesion needed to establish cell polarity. PMID:25127991

Disturbed jaw behavior in whiplash-associated disorders during rhythmic jaw movements.

PubMed

Häggman-Henrikson, B; Zafar, H; Eriksson, P-O

2002-11-01

As shown previously, "functional jaw movements" are the result of coordinated activation of jaw as well as neck muscles, leading to simultaneous movements in the temporomandibular, atlanto-occipital, and cervical spine joints. In this study, the effect of neck trauma on natural jaw function was evaluated in 12 individuals suffering from whiplash-associated disorders (WAD). Spatiotemporal characteristics of mandibular and concomitant head movements were evaluated for three different modes of rhythmic jaw activities: self-paced continuous maximal jaw-opening/-closing movements, paced continuous maximal jaw-opening/-closing movements at 50 cycles/minute, and unilateral chewing. Compared with healthy subjects, the WAD group showed smaller magnitude and altered coordination pattern (a change in temporal relations) of mandibular and head movements. In conclusion, these results show that neck trauma can derange integrated jaw and neck behavior, and underline the functional coupling between the jaw and head-neck motor systems.

Extraocular muscle function testing

MedlinePlus

... may result in double vision or rapid, uncontrolled eye movements . Normal Results Normal movement of the eyes in all directions. What Abnormal Results Mean Eye movement disorders may be due to abnormalities of the ...

Internuclear Ophthalmoplegia

MedlinePlus

... Nerve Disorders Internuclear ophthalmoplegia is impairment of horizontal eye movements caused by damage to certain connections between nerve ... include Lyme disease, tumors, and head injuries. Horizontal eye movements are impaired, but vertical eye movements are not. ...

On the Use of Dance as a Rehabilitation Approach for Children with Cerebral Palsy: A Single Case Study.

PubMed

Morán Pascual, Patricia; Mortes Roselló, Esther; Domingo Jacinto, Amparo; Belda Lois, Juan Manuel; Bermejo, Ignacio; Medina, Enric; Barberà Guillem, Ricard

2015-01-01

Cerebral Palsy (CP) is the most common motor disability in childhood. It is a group of permanent disorders that affect child development causing disorders of movement and posture and activity limitations. The impairment of psychomotor skills of children with Cerebral Palsy is attributed to a permanent alteration occurred in non-progressive brain development of the fetus or nursing infant. Some motor related symptoms can be treated using proper physical therapy. However, one of the biggest problems of the usual physical therapy is adherence to therapy. Ballet can be an alternative or a complement to physiotherapy, with the added attraction of not being part of a to therapy, but a fun activity with the extra reward associated with the realization of an artistic activity. For some years the ballet is used as therapeutically valuable for both children with cerebral palsy: Intensive ballet training can generate changes in the sensorimotor cortex. Ballet is characterized by a complex process of movements that have to be in a musical rhythm (hence have to be precise), in which there is an overall coordination of the muscles. It is also a highly motivating and rewarding activity that allows many children with CP sharing the activities of their peers without special needs. Objective measurements of the Full Port de Bras movement has been chosen as an index of improvement. The results shows progressive improvements of the execution in a single case.

Case report: Long-standing complex regional pain syndrome relieved by a cephalosporin antibiotic.

PubMed

Ware, Mark A; Bennett, Gary J

2014-07-01

We describe a young woman who had had treatment-refractory complex regional pain syndrome (CRPS) for 6 years before receiving antibiotic treatment with cefadroxil (a cephalosporin derivative) for a minor infection. Cefadroxil reduced the patient's pain and motor dysfunction (dystonia and impaired voluntary movement) within days; the pain and motor disorder returned when cefadroxil was discontinued; and both again abated when cefadroxil was re-instituted. The patient has now had symptom relief for more than 3 years on continuing cefadroxil therapy. We discuss this case in the context of previous reports of antibiotic treatment relieving neuropathic pain in experimental animals. Copyright © 2014 International Association for the Study of Pain. Published by Elsevier B.V. All rights reserved.

Food deprivation and nicotine correct akinesia and freezing in Na(+) -leak current channel (NALCN)-deficient strains of Caenorhabditis elegans.

PubMed

Bonnett, K; Zweig, R; Aamodt, E J; Dwyer, D S

2014-09-01

Mutations in various genes adversely affect locomotion in model organisms, and thus provide valuable clues about the complex processes that control movement. In Caenorhabditis elegans, loss-of-function mutations in the Na(+) leak current channel (NALCN) and associated proteins (UNC-79 and UNC-80) cause akinesia and fainting (abrupt freezing of movement during escape from touch). It is not known how defects in the NALCN induce these phenotypes or if they are chronic and irreversible. Here, we report that akinesia and freezing are state-dependent and reversible in NALCN-deficient mutants (nca-1;nca-2, unc-79 and unc-80) when additional cation channels substitute for this protein. Two main measures of locomotion were evaluated: spontaneous movement (traversal of >2 head lengths during a 5 second observation period) and the touch-freeze response (movement greater than three body bends in response to tail touch). Food deprivation for as little as 3 min stimulated spontaneous movement and corrected the touch-freeze response. Conversely, food-deprived animals that moved normally in the absence of bacteria rapidly reverted to uncoordinated movement when re-exposed to food. The effects of food deprivation were mimicked by nicotine, which suggested that acetylcholine mediated the response. Nicotine appeared to act on interneurons or motor neurons rather than directly at the neuromuscular junction because levamisole, which stimulates muscle contraction, did not correct movement. Neural circuits have been proposed to account for the effects of food deprivation and nicotine on spontaneous movement and freezing. The NALCN may play an unrecognized role in human movement disorders characterized by akinesia and freezing gait. © 2014 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

Platysmal myoclonus in subclinical hyperthyroidism.

PubMed

Teoh, Hock-Luen; Lim, Erle Chuen-Hian

2005-08-01

Hyperthyroidism is associated with various movement disorders, such as chorea and tremors. We report on a young Chinese woman with an unusual presentation of myoclonus, involving both platysmal muscles, in association with subclinical hyperthyroidism. The myoclonus was preceded by symptoms of hyperthyroidism, namely weight loss, menstrual disturbances, and heat intolerance. The movements abated with clonazepam and hyperthyroidism was treated with carbimazole. The myoclonus recurred briefly when she stopped taking clonazepam, but she has since remained well and euthyroid. Copyright 2005 Movement Disorder Society

Quantifying Motor Impairment in Movement Disorders.

PubMed

FitzGerald, James J; Lu, Zhongjiao; Jareonsettasin, Prem; Antoniades, Chrystalina A

2018-01-01

Until recently the assessment of many movement disorders has relied on clinical rating scales that despite careful design are inherently subjective and non-linear. This makes accurate and truly observer-independent quantification difficult and limits the use of sensitive parametric statistical methods. At last, devices capable of measuring neurological problems quantitatively are becoming readily available. Examples include the use of oculometers to measure eye movements and accelerometers to measure tremor. Many applications are being developed for use on smartphones. The benefits include not just more accurate disease quantification, but also consistency of data for longitudinal studies, accurate stratification of patients for entry into trials, and the possibility of automated data capture for remote follow-up. In this mini review, we will look at movement disorders with a particular focus on Parkinson's disease, describe some of the limitations of existing clinical evaluation tools, and illustrate the ways in which objective metrics have already been successful.

Using Constraints to Design Developmentally Appropriate Movement Activities for Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Pope, Michelle; Breslin, Casey M.; Getchell, Nancy; Liu, Ting

2012-01-01

Some of the characteristics and behaviors of children with autism spectrum disorder (ASD), such as difficulty with social interactions and sensory integration, make physical education instruction difficult. Children with ASD also encounter movement difficulties, such as motor-planning and anticipatory deficits. One way to enhance the ability of…

An Eye-Movement Study of Relational Memory in Adults with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Ring, Melanie; Bowler, Dermot M.; Gaigg, Sebastian B.

2017-01-01

Persons with Autism Spectrum Disorder (ASD) demonstrate good memory for single items but difficulties remembering contextual information related to these items. Recently, we found compromised explicit but intact implicit retrieval of object-location information in ASD (Ring et al. "Autism Res" 8(5):609-619, 2015). Eye-movement data…

Dissecting Online Control in Developmental Coordination Disorder: A Kinematic Analysis of Double-Step Reaching

ERIC Educational Resources Information Center

Hyde, Christian; Wilson, Peter H.

2011-01-01

In a recent study, children with movement clumsiness (or Developmental Coordination Disorder--DCD) were shown to have difficulties making rapid online corrections when reaching, demonstrated by slower and less accurate movements to double-step targets (Hyde & Wilson, 2011). These results suggest that children with DCD have difficulty using…

Eye-Movement Patterns Are Associated with Communicative Competence in Autistic Spectrum Disorders

ERIC Educational Resources Information Center

Norbury, Courtenay Frazier; Brock, Jon; Cragg, Lucy; Einav, Shiri; Griffiths, Helen; Nation, Kate

2009-01-01

Background: Investigations using eye-tracking have reported reduced fixations to salient social cues such as eyes when participants with autism spectrum disorders (ASD) view social scenes. However, these studies have not distinguished different cognitive phenotypes. Methods: The eye-movements of 28 teenagers with ASD and 18 typically developing…

Movement disorder symptoms associated with Unified Parkinson’s Disease Rating Scale (UPDRS) in two manganese (Mn)-exposed communities

EPA Science Inventory

Objectives: The UPDRS is a commonly used neurological measurement to assess the presence and severity of parkinsonian symptoms. It has also been used to assess symptoms associated with Mn exposure. Objectives: to determine 1) if movement disorder symptoms were associated with UP...

Clomipramine ameliorates adventitious movements and compulsions in prepubertal boys with autistic disorder and severe mental retardation.

PubMed

Brasic, J R; Barnett, J Y; Kaplan, D; Sheitman, B B; Aisemberg, P; Lafargue, R T; Kowalik, S; Clark, A; Tsaltas, M O; Young, J G

1994-07-01

In an open, nonblind clinical trial, clomipramine reduced adventitious movements and compulsions in five previously medicated prepubertal boys with autistic disorder and severe mental retardation. Poorly adapted rating scales, interrater variability, subject heterogeneity, different treatment histories, and environmental stresses confounded the assessment of treatment effects.

[Autism spectrum disorders and mu rhythm. A new neurophysiological view].

PubMed

Palau-Baduell, Montserrat; Valls-Santasusana, Antonio; Salvadó-Salvadó, Berta

2011-03-01

Electroencephalographic studies of subjects with autism spectrum disorders (ASD) provide evidences of brain functional aspects in this pathology. Mu rhythm can be reactive in normal population (mu suppression) to both self-movements and to movements performed by others. These reactivities are considered to be related to mirror neurons activity. Subjects with ASD show significant mu suppression to self-movements but they fail to react to the movements performed by others. These findings support the hypothesis of a dysfunctional mirror neurons system in individuals with ASD. Moreover, dysfunction of mirror neurons would be related to social and communicative impairments, cognitive deficits and impairment imitation skills associated with ASD.

Moving Forward: Advances in the Treatment of Movement Disorders with Deep Brain Stimulation

PubMed Central

Schiefer, Terry K.; Matsumoto, Joseph Y.; Lee, Kendall H.

2011-01-01

The modern era of stereotactic and functional neurosurgery has ushered in state of the art technologies for the treatment of movement disorders, particularly Parkinson’s disease (PD), tremor, and dystonia. After years of experience with various surgical therapies, the eventual shortcomings of both medical and surgical treatments, and several serendipitous discoveries, deep brain stimulation (DBS) has risen to the forefront as a highly effective, safe, and reversible treatment for these conditions. Idiopathic advanced PD can be treated with thalamic, globus pallidus internus (GPi), or subthalamic nucleus (STN) DBS. Thalamic DBS primarily relieves tremor while GPi and STN DBS alleviate a wide range of Parkinsonian symptoms. Thalamic DBS is also used in the treatment of other types of tremor, particularly essential tremor, with excellent results. Both primary and various types of secondary dystonia can be treated very effectively with GPi DBS. The variety of anatomical targets for these movement disorders is indicative of the network-level dysfunction mediating these movement disturbances. Despite an increasing understanding of the clinical benefits of DBS, little is known about how DBS can create such wide sweeping neuromodulatory effects. The key to improving this therapeutic modality and discovering new ways to treat these and other neurologic conditions lies in better understanding the intricacies of DBS. Here we review the history and pertinent clinical data for DBS treatment of PD, tremor, and dystonia. While multiple regions of the brain have been targeted for DBS in the treatment of these movement disorders, this review article focuses on those that are most commonly used in current clinical practice. Our search criteria for PubMed included combinations of the following terms: DBS, neuromodulation, movement disorders, PD, tremor, dystonia, and history. Dates were not restricted. PMID:22084629

Parkinson's disease and other basal ganglia or movement disorders in a large nationwide cohort of Swedish welders

PubMed Central

Fored, C M; Fryzek, J P; Brandt, L; Nise, G; Sjögren, B; McLaughlin, J K; Blot, W J; Ekbom, A

2006-01-01

Introduction Although it has been hypothesised that metal welding and flame cutting are associated with an increased risk for Parkinson's disease due to manganese released in the welding fume, few rigorous cohort studies have evaluated this risk. Methods The authors examined the relation between employment as a welder and all basal ganglia and movement disorders (ICD‐10, G20–26) in Sweden using nationwide and population based registers. All men recorded as welders or flame cutters (n = 49 488) in the 1960 or 1970 Swedish National Census were identified and their rates of specific basal ganglia and movement disorders between 1964 and 2003 were compared with those in an age and geographical area matched general population comparison cohort of gainfully employed men (n = 489 572). Results The overall rate for basal ganglia and movement disorders combined was similar for the welders and flame cutters compared with the general population (adjusted rate ratio (aRR) = 0.91 (95% CI 0.81 to 1.01). Similarly, the rate ratio for PD was 0.89 (95% CI 0.79 to 0.99). Adjusted rate ratios for other individual basal ganglia and movement disorders were also not significantly increased or decreased. Further analyses of Parkinson's disease by attained age, time period of follow up, geographical area of residency, and educational level revealed no significant differences between the welders and the general population. Rates for Parkinson's disease among welders in shipyards, where exposures to welding fumes are higher, were also similar to the general population (aRR = 0.95; 95% CI 0.70 to 1.28). Conclusion This nationwide record linkage study offers no support for a relation between welding and Parkinson's disease or any other specific basal ganglia and movement disorders. PMID:16421393

[Infantile autism and mirror neurons].

PubMed

Cornelio-Nieto, J O

2009-02-27

Infantile autism is a disorder that is characterised by alterations affecting reciprocal social interactions, abnormal verbal and non-verbal communication, poor imaginative activity and a restricted repertoire of activities and interests. The causes of autism remain unknown, but there are a number of different approaches that attempt to explain the neurobiological causes of the syndrome. A recent theory that has been considered is that of a dysfunction in the mirror neuron system (MNS). The MNS is a neuronal complex, originally described in monkeys and also found in humans, that is related with our movements and which offers specific responses to the movements and intended movements of other subjects. This system is believed to underlie processes of imitation and our capacity to learn by imitation. It is also thought to play a role in language acquisition, in expressing the emotions, in understanding what is happening to others and in empathy. Because these functions are altered in children with autism, it has been suggested that there is some dysfunction present in the MNS of those with autism. Dysfunction of the MNS could account for the symptoms that are observed in children with autism.

Self-motion perception: assessment by real-time computer-generated animations

NASA Technical Reports Server (NTRS)

Parker, D. E.; Phillips, J. O.

2001-01-01

We report a new procedure for assessing complex self-motion perception. In three experiments, subjects manipulated a 6 degree-of-freedom magnetic-field tracker which controlled the motion of a virtual avatar so that its motion corresponded to the subjects' perceived self-motion. The real-time animation created by this procedure was stored using a virtual video recorder for subsequent analysis. Combined real and illusory self-motion and vestibulo-ocular reflex eye movements were evoked by cross-coupled angular accelerations produced by roll and pitch head movements during passive yaw rotation in a chair. Contrary to previous reports, illusory self-motion did not correspond to expectations based on semicircular canal stimulation. Illusory pitch head-motion directions were as predicted for only 37% of trials; whereas, slow-phase eye movements were in the predicted direction for 98% of the trials. The real-time computer-generated animations procedure permits use of naive, untrained subjects who lack a vocabulary for reporting motion perception and is applicable to basic self-motion perception studies, evaluation of motion simulators, assessment of balance disorders and so on.

Oral dyskinesia: a clinical overview.

PubMed

Blanchet, Pierre J; Rompré, Pierre H; Lavigne, Gilles J; Lamarche, Claude

2005-01-01

Dentists may be the first health care professionals to recognize unusual and abnormal oral movements collectively termed oral dyskinesias. The aims of this clinical overview are to raise the dental community's awareness about this important and complex topic and describe the clinical features and management of the main entities. A MEDLINE search of the different entities reported in the English and French literature was conducted. The main findings of a field study on oral dyskinesia were also reviewed. Involuntary movement disorders are often drug related. In other cases, excessive oral movements may occur at any age in relation to various neuropsychiatric conditions. Orofacial dystonia apparently triggered by dental procedures has also been reported. Edentulousness has been associated with oral stereotypes. In a survey of 352 edentulous elderly individuals attending daycare centers, only 7% displayed visible oral sterotypes, and ill-fitting dentures were suggested as a possible triggering factor for the majority. A multidisciplinary evaluation is desirable in the care of individuals with oral dyskinesia and in the selection of those who may benefit from a prosthodontic approach. A good knowledge of potentially offending drugs may allow avoidance of unnecessary procedures.

Models for discovery of targeted therapy in genetic epileptic encephalopathies.

PubMed

Maljevic, Snezana; Reid, Christopher A; Petrou, Steven

2017-10-01

Epileptic encephalopathies are severe disorders emerging in the first days to years of life that commonly include refractory seizures, various types of movement disorders, and different levels of developmental delay. In recent years, many de novo occurring variants have been identified in individuals with these devastating disorders. To unravel disease mechanisms, the functional impact of detected variants associated with epileptic encephalopathies is investigated in a range of cellular and animal models. This review addresses efforts to advance and use such models to identify specific molecular and cellular targets for the development of novel therapies. We focus on ion channels as the best-studied group of epilepsy genes. Given the clinical and genetic heterogeneity of epileptic encephalopathy disorders, experimental models that can reflect this complexity are critical for the development of disease mechanisms-based targeted therapy. The convergence of technological advances in gene sequencing, stem cell biology, genome editing, and high throughput functional screening together with massive unmet clinical needs provides unprecedented opportunities and imperatives for precision medicine in epileptic encephalopathies. © 2017 International Society for Neurochemistry.

Pedunculopontine network dysfunction in Parkinson's disease with postural control and sleep disorders.

PubMed

Gallea, Cecile; Ewenczyk, Claire; Degos, Bertrand; Welter, Marie-Laure; Grabli, David; Leu-Semenescu, Smaranda; Valabregue, Romain; Berroir, Pierre; Yahia-Cherif, Lydia; Bertasi, Eric; Fernandez-Vidal, Sara; Bardinet, Eric; Roze, Emmanuel; Benali, Habib; Poupon, Cyril; François, Chantal; Arnulf, Isabelle; Lehéricy, Stéphane; Vidailhet, Marie

2017-05-01

The objective of this study was to investigate pedunculopontine nucleus network dysfunctions that mediate impaired postural control and sleep disorder in Parkinson's disease. We examined (1) Parkinson's disease patients with impaired postural control and rapid eye movement sleep behavior disorder (further abbreviated as sleep disorder), (2) Parkinson's disease patients with sleep disorder only, (3) Parkinson's disease patients with neither impaired postural control nor sleep disorder, and (4) healthy volunteers. We assessed postural control with clinical scores and biomechanical recordings during gait initiation. Participants had video polysomnography, daytime sleepiness self-evaluation, and resting-state functional MRIs. Patients with impaired postural control and sleep disorder had longer duration of anticipatory postural adjustments during gait initiation and decreased functional connectivity between the pedunculopontine nucleus and the supplementary motor area in the locomotor network that correlated negatively with the duration of anticipatory postural adjustments. Both groups of patients with sleep disorder had decreased functional connectivity between the pedunculopontine nucleus and the anterior cingulate cortex in the arousal network that correlated with daytime sleepiness. The degree of dysfunction in the arousal network was related to the degree of connectivity in the locomotor network in all patients with sleep disorder, but not in patients without sleep disorder or healthy volunteers. These results shed light on the functional neuroanatomy of pedunculopontine nucleus networks supporting the clinical manifestation and the interdependence between sleep and postural control impairments in Parkinson's disease. © 2016 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Psycho-Cognitive Intervention for ASD from Cross-Species Behavioral Analyses of Infants, Chicks and Common Marmosets.

PubMed

Koshiba, Mamiko; Karino, Genta; Mimura, Koki; Nakamura, Shun; Yui, Kunio; Kunikata, Tetsuya; Yamanouchi, Hideo

2016-01-01

Educational treatment to support social development of children with autism spectrum disorder (ASD) is an important topic in developmental psychiatry. However, it remains difficult to objectively quantify the socio-emotional development of ASD children. To address this problem, we developed a novel analytical method that assesses subjects' complex behaviors using multivariate analysis, 'Behavior Output analysis for Quantitative Emotional State Translation' (BOUQUET). Here, we examine the potential for psycho-cognitive ASD therapy based on comparative evaluations of clinical (human) and experimental (animal) models. Our observations of ASD children (vs. their normally developing siblings) and the domestic chick in socio-sensory deprivation models show the importance of unimodal sensory stimulation, particularly important for tactile- and auditory-biased socialization. Identifying psycho-cognitive elements in early neural development, human newborn infants in neonatal intensive care unit as well as a New World monkey, the common marmoset, also prompted us to focus on the development of voluntary movement against gravity. In summary, striking behavioral similarities between children with ASD and domestic chicks' socio-sensory deprivation models support the role of multimodal sensory-motor integration as a prerequisite step for normal development of socio-emotional and psycho-cognitive functions. Data obtained in the common marmoset model also suggest that switching from primitive anti-gravity reflexes to complex voluntary movement may be a critical milestone for psycho-cognitive development. Combining clinical findings with these animal models, and using multivariate integrative analyses may facilitate the development of effective interventions to improve social functions in infants and in children with neurodevelopmental disorders.

[Vojta's method as the early neurodevelopmental diagnosis and therapy concept].

PubMed

Banaszek, Grazyna

2010-01-01

Vaclav Vojta (1917-2000) developed an early diagnostic method of the neurodevelopmental disorder of infants and came up with therapeutic concept consisting in releasing of global motor complexes by means of the stimulation of proper areas on patients body. In the diagnostics apart from very careful observation of the spontaneous movement of the infant and examination of the reflexes that are characteristic for the first weeks of human's life, Vojta applied the examination of the 7 postural reactions. Presence of the trouble in patterns and dynamics of the postural reactions Vojta called Central Nervous Coordination Disorder--CNCD and regarded as work diagnosis or alarm signal indicating necessity of application of the therapy, especially when asymmetry of the muscle tone and primitive reflexes beyond their physiological appearance period are observed or the number of the abnormal reactions exceeds 5. Global motor complexes as reflex locomotion--crawling and rotation--consist of all the partial motion patterns, which are gradually used by healthy infant in the process of postural and motor ontogenesis. Providing the central nervous system with proper external stimulation allows to, using neuronal plasticity, recreate an access to the human's postural development program and gradually replace pathological motor patterns by those more regular. Exercises repeated several times a day rebuilt support, erectile and vertical mechanisms, improve automatic postural control and phase lower limb movement. Affecting especially on autochtonic muscles of the spine exercises balance synergic cooperation of muscle groups in the trunk and those surrounding key body joints. This way they correct body's posture and peripheral motion and pathology of the outlasted primitive reflexes gradually withdraws.

The role of high-field magnetic resonance imaging in parkinsonian disorders: Pushing the boundaries forward.

PubMed

Lehericy, Stéphane; Vaillancourt, David E; Seppi, Klaus; Monchi, Oury; Rektorova, Irena; Antonini, Angelo; McKeown, Martin J; Masellis, Mario; Berg, Daniela; Rowe, James B; Lewis, Simon J G; Williams-Gray, Caroline H; Tessitore, Alessandro; Siebner, Hartwig R

2017-04-01

Historically, magnetic resonance imaging (MRI) has contributed little to the study of Parkinson's disease (PD), but modern MRI approaches have unveiled several complementary markers that are useful for research and clinical applications. Iron- and neuromelanin-sensitive MRI detect qualitative changes in the substantia nigra. Quantitative MRI markers can be derived from diffusion weighted and iron-sensitive imaging or volumetry. Functional brain alterations at rest or during task performance have been captured with functional and arterial spin labeling perfusion MRI. These markers are useful for the diagnosis of PD and atypical parkinsonism, to track disease progression from the premotor stages of these diseases and to better understand the neurobiological basis of clinical deficits. A current research goal using MRI is to generate time-dependent models of the evolution of PD biomarkers that can help understand neurodegeneration and provide reliable markers for therapeutic trials. This article reviews recent advances in MRI biomarker research at high-field (3T) and ultra high field-imaging (7T) in PD and atypical parkinsonism. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C.

PubMed

Koens, L H; Kuiper, A; Coenen, M A; Elting, J W J; de Vries, J J; Engelen, M; Koelman, J H T M; van Spronsen, F J; Spikman, J M; de Koning, T J; Tijssen, M A J

2016-09-01

Niemann-Pick type C (NP-C) is a rare autosomal recessive progressive neurodegenerative disorder caused by mutations in the NP-C 1 or 2 gene. Besides visceral symptoms, presentation in adolescent and adult onset variants is often with neurological symptoms. The most frequently reported presenting symptoms of NP-C in adulthood are psychiatric symptoms (38 %), cognitive decline (23 %) and ataxia (20 %). Myoclonus can be present, but its value in early diagnosis and the evolving clinical phenotype in NP-C is unclear. In this paper we present eight Dutch cases of NP-C of whom five with myoclonus. Eight patients with genetically confirmed NP-C were recruited from two Dutch University Medical Centers. A structured interview and neuropsychological tests (for working and verbal memory, attention and emotion recognition) were performed. Movement disorders were assessed using a standardized video protocol. Quality of life was evaluated by questionnaires (Rand-36, SIP-68, HAQ). In four of the five patients with myoclonic jerks simultaneous EEG with EMG was performed. A movement disorder was the initial neurological symptom in six patients: three with myoclonus and three with ataxia. Two others presented with psychosis. Four experienced cognitive deficits early in the course of the disease. Patients showed cognitive deficits in all investigated domains. Five patients showed myoclonic jerks, including negative myoclonus. In all registered patients EEG-EMG coherence analysis and/or back-averaging proved a cortical origin of myoclonus. Patients with more severe movement disorders experienced significantly more physical disabilities. Presenting neurological symptoms of NP-C include movement disorders, psychosis and cognitive deficits. At current neurological examination movement disorders were seen in all patients. The incidence of myoclonus in our cohort was considerably higher (63 %) than in previous publications and it was the presenting symptom in 38 %. A cortical origin of myoclonus was demonstrated. Our data suggest that myoclonus may be overlooked in patients with NP-C. All patients scored significantly lower on physical domains of HRQoL. Symptomatic treatment of movement disorders may improve physical functioning and subsequently HRQoL.

Intracortical Microstimulation Maps of Motor, Somatosensory, and Posterior Parietal Cortex in Tree Shrews (Tupaia belangeri) Reveal Complex Movement Representations.

PubMed

Baldwin, Mary K L; Cooke, Dylan F; Krubitzer, Leah

2017-02-01

Long-train intracortical microstimulation (LT-ICMS) is a popular method for studying the organization of motor and posterior parietal cortex (PPC) in mammals. In primates, LT-ICMS evokes both multijoint and multiple-body-part movements in primary motor, premotor, and PPC. In rodents, LT-ICMS evokes complex movements of a single limb in motor cortex. Unfortunately, very little is known about motor/PPC organization in other mammals. Tree shrews are closely related to both primates and rodents and could provide insights into the evolution of complex movement domains in primates. The present study investigated the extent of cortex in which movements could be evoked with ICMS and the characteristics of movements elicited using both short train (ST) and LT-ICMS in tree shrews. We demonstrate that LT-ICMS and ST-ICMS maps are similar, with the movements elicited with ST-ICMS being truncated versions of those elicited with LT-ICMS. In addition, LT-ICMS-evoked complex movements within motor cortex similar to those in rodents. More complex movements involving multiple body parts such as the hand and mouth were also elicited in motor cortex and PPC, as in primates. Our results suggest that complex movement networks present in PPC and motor cortex were present in mammals prior to the emergence of primates. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Sensorimotor restriction affects complex movement topography and reachable space in the rat motor cortex.

PubMed

Budri, Mirco; Lodi, Enrico; Franchi, Gianfranco

2014-01-01

Long-duration intracortical microstimulation (ICMS) studies with 500 ms of current pulses suggest that the forelimb area of the motor cortex is organized into several spatially distinct functional zones that organize movements into complex sequences. Here we studied how sensorimotor restriction modifies the extent of functional zones, complex movements, and reachable space representation in the rat forelimb M1. Sensorimotor restriction was achieved by means of whole-forelimb casting of 30 days duration. Long-duration ICMS was carried out 12 h and 14 days after cast removal. Evoked movements were measured using a high-resolution 3D optical system. Long-term cast caused: (i) a reduction in the number of sites where complex forelimb movement could be evoked; (ii) a shrinkage of functional zones but no change in their center of gravity; (iii) a reduction in movement with proximal/distal coactivation; (iv) a reduction in maximal velocity, trajectory and vector length of movement, but no changes in latency or duration; (v) a large restriction of reachable space. Fourteen days of forelimb freedom after casting caused: (i) a recovery of the number of sites where complex forelimb movement could be evoked; (ii) a recovery of functional zone extent and movement with proximal/distal coactivation; (iii) an increase in movement kinematics, but only partial restoration of control rat values; (iv) a slight increase in reachability parameters, but these remained far below baseline values. We pose the hypothesis that specific aspects of complex movement may be stored within parallel motor cortex re-entrant systems.

Sensorimotor restriction affects complex movement topography and reachable space in the rat motor cortex

PubMed Central

Budri, Mirco; Lodi, Enrico; Franchi, Gianfranco

2014-01-01

Long-duration intracortical microstimulation (ICMS) studies with 500 ms of current pulses suggest that the forelimb area of the motor cortex is organized into several spatially distinct functional zones that organize movements into complex sequences. Here we studied how sensorimotor restriction modifies the extent of functional zones, complex movements, and reachable space representation in the rat forelimb M1. Sensorimotor restriction was achieved by means of whole-forelimb casting of 30 days duration. Long-duration ICMS was carried out 12 h and 14 days after cast removal. Evoked movements were measured using a high-resolution 3D optical system. Long-term cast caused: (i) a reduction in the number of sites where complex forelimb movement could be evoked; (ii) a shrinkage of functional zones but no change in their center of gravity; (iii) a reduction in movement with proximal/distal coactivation; (iv) a reduction in maximal velocity, trajectory and vector length of movement, but no changes in latency or duration; (v) a large restriction of reachable space. Fourteen days of forelimb freedom after casting caused: (i) a recovery of the number of sites where complex forelimb movement could be evoked; (ii) a recovery of functional zone extent and movement with proximal/distal coactivation; (iii) an increase in movement kinematics, but only partial restoration of control rat values; (iv) a slight increase in reachability parameters, but these remained far below baseline values. We pose the hypothesis that specific aspects of complex movement may be stored within parallel motor cortex re-entrant systems. PMID:25565987

Arm and Hand Movement in Children Suspected of Having Autism Spectrum Disorder

ERIC Educational Resources Information Center

Braddock, Barbara A.; Hilton, Jane C.

2016-01-01

The aim of this study was to describe arm and hand movement in children suspected of having autism spectrum disorder (ASD; age range 29-43 months). A videotaped retrospective review of five children with symptoms of ASD during "Communication Temptation Tasks" was completed at two time points (pre-testing and 6 weeks later). Categories of…

Physical Activity into Socialization: A Movement-Based Social Skills Program for Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Lee, Jihyun; Vargo, Kristina K.

2017-01-01

Children with autism spectrum disorder (ASD) often exhibit deficits in social-communicative behaviors. Given the increased prevalence of children with ASD, programs designed to teach social-communicative behaviors are necessary. This article introduces a movement-based program that embeds social-skill components to improve the motor skills and…

Neurosyphilis as a great imitator: a case report.

PubMed

Sabre, Liis; Braschinsky, Mark; Taba, Pille

2016-07-28

Neurosyphilis is defined as any involvement of the central nervous system by the bacterium Treponema pallidum. Movement disorders as manifestations of syphilis have been reported quite rarely. We report a case of a 42-year-old Russian man living in Estonia with rapidly progressive dementia and movement disorders manifesting as myoclonus, cerebellar ataxia and parkinsonism. The mini mental state examination score was 12/30. After excluding different neurodegenerative causes, further diagnostic testing was consistent with neurosyphilis. Treatment with penicillin was started and 6 months later his mini mental state examination score was 25/30 and he had no myoclonus, parkinsonism or cerebellar dysfunction. Since syphilis is easily diagnosed and treatable, it should be considered and tested in patients with cognitive impairment and movement disorders.

Chorea as a rare manifestation of hyperglycaemia.

PubMed

Patil, Rajesh; Sangoi, Parin; Wasekar, Nilesh; Vishwanathan, Deepti; Jadhav, S G; Joglekar, V K

2013-09-01

We present a case of chorea presenting as a clinical manifestation of hyperglycaemia.The purpose of presenting this case is to highlight the fact that movement disorder may be the clinical presentation of hyperglycaemia and it reverts on treatment of hyperglycaemia. A 66-year-old female known case of type 2 diabetes mellitus and on oral hypoglycaemic drugs presented with abnormal and involuntary movements of the whole body and face since 7 days and high plasma glucose (446 mg/dl) and without ketosis. On controlling the blood sugar, there has been significant decrease in choreiform movements within 48 hrs and complete resolution of involuntary movements found at discharge at 1 week. Movement disorder like chorea may be the clinical presentation of the hyperglycaemia which could completely recover on rapid detection and correction of hyperglycaemia.

Neurology of Volition

PubMed Central

Kranick, Sarah M.; Hallett, Mark

2016-01-01

Neurological disorders of volition may be characterized by deficits in willing and/or agency. When we move our bodies through space, it is the sense that we intended to move (willing) and that our actions were a consequence of this intention (self-agency) that gives us the sense of voluntariness and a general feeling of being “in control.” While it is possible to have movements that share executive machinery ordinarily used for voluntary movement but lack a sense of voluntariness, such as psychogenic movement disorders, it is also possible to claim volition for presumed involuntary movements (early chorea) or even when no movement is produced (anosognosia). The study of such patients should enlighten traditional models of how the percepts of volition are generated in the brain with regards to movement. We discuss volition and its components as multi-leveled processes with feedforward and feedback information flow, and dependence on prior expectations as well as external and internal cues. PMID:23329204

Distinct cortical circuit mechanisms for complex forelimb movement and motor map topography.

PubMed

Harrison, Thomas C; Ayling, Oliver G S; Murphy, Timothy H

2012-04-26

Cortical motor maps are the basis of voluntary movement, but they have proven difficult to understand in the context of their underlying neuronal circuits. We applied light-based motor mapping of Channelrhodopsin-2 mice to reveal a functional subdivision of the forelimb motor cortex based on the direction of movement evoked by brief (10 ms) pulses. Prolonged trains of electrical or optogenetic stimulation (100-500 ms) targeted to anterior or posterior subregions of motor cortex evoked reproducible complex movements of the forelimb to distinct positions in space. Blocking excitatory cortical synaptic transmission did not abolish basic motor map topography, but the site-specific expression of complex movements was lost. Our data suggest that the topography of movement maps arises from their segregated output projections, whereas complex movements evoked by prolonged stimulation require intracortical synaptic transmission. Copyright © 2012 Elsevier Inc. All rights reserved.

Functional disorders of the temporomandibular joints: Internal derangement of the temporomandibular joint.

PubMed

Chang, Chih-Ling; Wang, Ding-Han; Yang, Mu-Chen; Hsu, Wun-Eng; Hsu, Ming-Lun

2018-04-01

Temporomandibular joint (TMJ) is one of the most complex joints of the human body. Due to its unique movement, in terms of combination of rotation and translator movement, disc of the joint plays an important role to maintain its normal function. In order to sustain the normal function of the TMJ, disc must be kept in proper position as well as maintain normal shape in all circumstances. Once the disc is not any more in its normal position during function of the joint, disturbance of the joint can be occurred which will lead to subsequent distortion of the disc. Shape of the disc can be influenced by many factors i.e.: abnormal function or composition of the disc itself. Etiology of the internal derangement of the disc remains controversial. Multifactorial theory has been postulated in most of previous manuscripts. Disc is composed of mainly extracellular matrix. Abnormal proportion of collagen type I & III may also leads to joint hypermobility which may be also a predisposing factor of this disorder. Thus it can be recognized as local manifestation of a systemic disorder. Different treatment modalities with from conservative treatment to surgical intervention distinct success rate have been reported. Recently treatment with extracellular matrix injection becomes more and more popular to strengthen the joint itself. Since multifactorial in character, the best solution of the treatment modalities should be aimed to resolve possible etiology from different aspects. Team work may be indication to reach satisfied results. Copyright © 2018. Published by Elsevier Taiwan.

Kinect-based virtual rehabilitation and evaluation system for upper limb disorders: A case study.

PubMed

Ding, W L; Zheng, Y Z; Su, Y P; Li, X L

2018-04-19

To help patients with disabilities of the arm and shoulder recover the accuracy and stability of movements, a novel and simple virtual rehabilitation and evaluation system called the Kine-VRES system was developed using Microsoft Kinect. First, several movements and virtual tasks were designed to increase the coordination, control and speed of the arm movements. The movements of the patients were then captured using the Kinect sensor, and kinematics-based interaction and real-time feedback were integrated into the system to enhance the motivation and self-confidence of the patient. Finally, a quantitative evaluation method of upper limb movements was provided using the recorded kinematics during hand-to-hand movement. A preliminary study of this rehabilitation system indicates that the shoulder movements of two participants with ataxia became smoother after three weeks of training (one hour per day). This case study demonstrated the effectiveness of the designed system, which could be promising for the rehabilitation of patients with upper limb disorders.

Uncovering beat deafness: detecting rhythm disorders with synchronized finger tapping and perceptual timing tasks.

PubMed

Dalla Bella, Simone; Sowiński, Jakub

2015-03-16

A set of behavioral tasks for assessing perceptual and sensorimotor timing abilities in the general population (i.e., non-musicians) is presented here with the goal of uncovering rhythm disorders, such as beat deafness. Beat deafness is characterized by poor performance in perceiving durations in auditory rhythmic patterns or poor synchronization of movement with auditory rhythms (e.g., with musical beats). These tasks include the synchronization of finger tapping to the beat of simple and complex auditory stimuli and the detection of rhythmic irregularities (anisochrony detection task) embedded in the same stimuli. These tests, which are easy to administer, include an assessment of both perceptual and sensorimotor timing abilities under different conditions (e.g., beat rates and types of auditory material) and are based on the same auditory stimuli, ranging from a simple metronome to a complex musical excerpt. The analysis of synchronized tapping data is performed with circular statistics, which provide reliable measures of synchronization accuracy (e.g., the difference between the timing of the taps and the timing of the pacing stimuli) and consistency. Circular statistics on tapping data are particularly well-suited for detecting individual differences in the general population. Synchronized tapping and anisochrony detection are sensitive measures for identifying profiles of rhythm disorders and have been used with success to uncover cases of poor synchronization with spared perceptual timing. This systematic assessment of perceptual and sensorimotor timing can be extended to populations of patients with brain damage, neurodegenerative diseases (e.g., Parkinson's disease), and developmental disorders (e.g., Attention Deficit Hyperactivity Disorder).

Toward a Valid Animal Model of Bipolar Disorder: How the Research Domain Criteria Help Bridge the Clinical-Basic Science Divide.

PubMed

Cosgrove, Victoria E; Kelsoe, John R; Suppes, Trisha

2016-01-01

Bipolar disorder is a diagnostically heterogeneous disorder, although mania emerges as a distinct phenotype characterized by elevated mood and increased activity or energy. While bipolar disorder's cyclicity is difficult to represent in animals, models of mania have begun to decode its fundamental underlying neurobiology. When psychostimulants such as amphetamine or cocaine are administered to rodents, a resulting upsurge of motor activity is thought to share face and predictive validity with mania in humans. Studying black Swiss mice, which inherently exhibit proclivity for reward seeking and risk taking, also has yielded some insight. Further, translating the biology of bipolar disorder in humans into animal models has led to greater understanding of roles for candidate biological systems such as the GRIK2 and CLOCK genes, as well as the extracellular signal-related kinase pathway involved in the pathophysiology of the illness. The National Institute of Mental Health Research Domain Criteria initiative seeks to identify building blocks of complex illnesses like bipolar disorder in hopes of uncovering the neurobiology of each, as well as how each fits together to produce syndromes like bipolar disorder or why so many mental illnesses co-occur together. Research Domain Criteria-driven preclinical models of isolated behaviors and domains involved in mania and bipolar disorder will ultimately inform movement toward nosology supported by neurobiology. Copyright © 2016 Society of Biological Psychiatry. All rights reserved.

Physical Impairment

NASA Astrophysics Data System (ADS)

Trewin, Shari

Many health conditions can lead to physical impairments that impact computer and Web access. Musculoskeletal conditions such as arthritis and cumulative trauma disorders can make movement stiff and painful. Movement disorders such as tremor, Parkinsonism and dystonia affect the ability to control movement, or to prevent unwanted movements. Often, the same underlying health condition also has sensory or cognitive effects. People with dexterity impairments may use a standard keyboard and mouse, or any of a wide range of alternative input mechanisms. Examples are given of the diverse ways that specific dexterity impairments and input mechanisms affect the fundamental actions of Web browsing. As the Web becomes increasingly sophisticated, and physically demanding, new access features at the Web browser and page level will be necessary.

The Moving Rubber Hand Illusion Reveals that Explicit Sense of Agency for Tapping Movements Is Preserved in Functional Movement Disorders.

PubMed

Marotta, Angela; Bombieri, Federica; Zampini, Massimiliano; Schena, Federico; Dallocchio, Carlo; Fiorio, Mirta; Tinazzi, Michele

2017-01-01

Functional movement disorders (FMD) are characterized by motor symptoms (e.g., tremor, gait disorder, and dystonia) that are not compatible with movement abnormalities related to a known organic cause. One key clinical feature of FMD is that motor symptoms are similar to voluntary movements but are subjectively experienced as involuntary by patients. This gap might be related to abnormal self-recognition of bodily action, which involves two main components: sense of agency and sense of body ownership. The aim of this study was to systematically investigate whether this function is altered in FMD, specifically focusing on the subjective feeling of agency, body ownership, and their interaction during normal voluntary movements. Patients with FMD ( n = 21) and healthy controls ( n = 21) underwent the moving Rubber Hand Illusion (mRHI), in which passive and active movements can differentially elicit agency, ownership or both. Explicit measures of agency and ownership were obtained via a questionnaire. Patients and controls showed a similar pattern of response: when the rubber hand was in a plausible posture, active movements elicited strong agency and ownership; implausible posture of the rubber hand abolished ownership but not agency; passive movements suppressed agency but not ownership. These findings suggest that explicit sense of agency and body ownership are preserved in FMD. The latter finding is shared by a previous study in FMD using a static version of the RHI, whereas the former appears to contrast with studies demonstrating altered implicit measures of agency (e.g., sensory attenuation). Our study extends previous findings by suggesting that in FMD: (i) the sense of body ownership is retained also when interacting with the motor system; (ii) the subjective experience of agency for voluntary tapping movements, as measured by means of mRHI, is preserved.

Mitochondria: A Common Target for Genetic Mutations and Environmental Toxicants in Parkinson’s Disease

PubMed Central

Helley, Martin P.; Pinnell, Jennifer; Sportelli, Carolina; Tieu, Kim

2017-01-01

Parkinson’s disease (PD) is a devastating neurological movement disorder. Since its first discovery 200 years ago, genetic and environmental factors have been identified to play a role in PD development and progression. Although genetic studies have been the predominant driving force in PD research over the last few decades, currently only a small fraction of PD cases can be directly linked to monogenic mutations. The remaining cases have been attributed to other risk associated genes, environmental exposures and gene–environment interactions, making PD a multifactorial disorder with a complex etiology. However, enormous efforts from global research have yielded significant insights into pathogenic mechanisms and potential therapeutic targets for PD. This review will highlight mitochondrial dysfunction as a common pathway involved in both genetic mutations and environmental toxicants linked to PD. PMID:29204154

Diagnosis and treatment of sleep disorders: a brief review for clinicians

PubMed Central

Abad, Vivien C.; Guilleminault, Christian

2003-01-01

Sleep disorders encompass a wide spectrum of diseases with significant individual health consequences and high economic costs to society. To facilitate the diagnosis and treatment of sleep disorders, this review provides a framework using the International Classification of Sleep Disorders, Primary and secondary insomnia are differentiated, and pharmacological and nonpharmacological treatments are discussed. Common circadian rhythm disorders are described in conjunction with interventions, including chronotherapy and light therapy. The diagnosis and treatment of restless legs syndrome/periodic limb movement disorder is addressed. Attention is focused on obstructive sleep apnea and upper airway resistance syndrome, and their treatment. The constellation of symptoms and findings in narcolepsy are reviewed together with diagnostic testing and therapy, Parasomnias, including sleep terrors, somnambulism, and rapid eye movement (REM) behavior sleep disorders are described, together with associated laboratory testing results and treatment. PMID:22033666

The therapeutic potential of G-protein coupled receptors in Huntington's disease.

PubMed

Dowie, Megan J; Scotter, Emma L; Molinari, Emanuela; Glass, Michelle

2010-11-01

Huntington's disease is a late-onset autosomal dominant inherited neurodegenerative disease characterised by increased symptom severity over time and ultimately premature death. An expanded CAG repeat sequence in the huntingtin gene leads to a polyglutamine expansion in the expressed protein, resulting in complex dysfunctions including cellular excitotoxicity and transcriptional dysregulation. Symptoms include cognitive deficits, psychiatric changes and a movement disorder often referred to as Huntington's chorea, which involves characteristic involuntary dance-like writhing movements. Neuropathologically Huntington's disease is characterised by neuronal dysfunction and death in the striatum and cortex with an overall decrease in cerebral volume (Ho et al., 2001). Neuronal dysfunction begins prior to symptom presentation, and cells of particular vulnerability include the striatal medium spiny neurons. Huntington's is a devastating disease for patients and their families and there is currently no cure, or even an effective therapy for disease symptoms. G-protein coupled receptors are the most abundant receptor type in the central nervous system and are linked to complex downstream pathways, manipulation of which may have therapeutic application in many neurological diseases. This review will highlight the potential of G-protein coupled receptor drug targets as emerging therapies for Huntington's disease. Copyright © 2010 Elsevier Inc. All rights reserved.

Telemedicine Use for Movement Disorders: A Global Survey.

PubMed

Hassan, Anhar; Dorsey, E Ray; Goetz, Christopher G; Bloem, Bastiaan R; Guttman, Mark; Tanner, Caroline M; Mari, Zoltan; Pantelyat, Alexander; Galifianakis, Nicholas B; Bajwa, Jawad A; Gatto, Emilia M; Cubo, Esther

2018-03-22

Telemedicine is increasingly used to care for patients with movement disorders, but data regarding its global use are limited. To obtain baseline international data about telemedicine use among movement disorder clinicians. An online survey was sent to all 6,056 Movement Disorder Society members in 2015. Scope, reimbursement, and perceived quality of telemedicine were assessed. There were 549 respondents (9.1% overall response rate) from 83 countries. Most (85.8%) were physicians, and most (70.9%) worked in an academic or university practice. Half of respondents (n = 287, from 57 countries) used telemedicine for clinical care; activities included e-mail (63.2%), video visits (follow-up [39.7%] and new [35.2%]), and video-based education (35.2%). One hundred five respondents personally conducted video visits, most frequently to outpatient clinics (53.5%), patient homes (30.8%), and hospital inpatients (30.3%). The most common challenges were a limited neurological examination (58.9%) and technological difficulties (53.3%), and the most common benefits were reduced travel time (92.9%) and patient costs (60.1%). The most frequent reimbursements were none (39.0%), public insurance (24.5%), and patient payment (9.3%). Half of respondents planned to use telemedicine in the future, and three-quarters were interested in telemedicine education. More than 250 respondents around the world engage in telemedicine for movement disorders; most perceived benefit for patients, despite challenges and reimbursement for clinicians. Formal instruction on telemedicine is highly desired. Although the survey response was low and possibly biased to over represent those with telemedicine experience, the study provides baseline data for future comparison and to improve telemedicine delivery.

Evolution of diagnostic criteria and assessments for Parkinson's disease mild cognitive impairment.

PubMed

Goldman, Jennifer G; Holden, Samantha K; Litvan, Irene; McKeith, Ian; Stebbins, Glenn T; Taylor, John-Paul

2018-04-01

Mild cognitive impairment has gained recognition as a construct and a potential prodromal stage to dementia in both Alzheimer's disease and Parkinson's disease (PD). Although mild cognitive impairment has been recognized in the Alzheimer's disease field, it is a relatively more recent topic of interest in PD. Recent advances include the development of diagnostic criteria for PD mild cognitive impairment to provide more uniform definitions for clinical and research use. Studies reveal that mild cognitive impairment in PD is frequent, but also heterogeneous, with variable clinical presentations, differences in its progression to dementia, and likely differences in underlying pathophysiology. Application of the International Parkinson and Movement Disorder Society PD Mild Cognitive Impairment Task Force diagnostic criteria has provided insights regarding cognitive measures, functional assessments, and other key topics that may require additional refinement. Furthermore, it is important to consider definitions of PD mild cognitive impairment in the landscape of other related Lewy body disorders, such as dementia with Lewy bodies, and in the context of prodromal and early-stage PD. This article examines the evolution of mild cognitive impairment in concept and definition, particularly in PD, but also in related disorders such as Alzheimer's disease and dementia with Lewy bodies; the development and application of International Parkinson and Movement Disorder Society PD Mild Cognitive Impairment diagnostic criteria; and insights and future directions for the field of PD mild cognitive impairment. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

Social disorder and diagnostic order: the US Mental Hygiene Movement, the Midtown Manhattan study and the development of psychiatric epidemiology in the 20th century

PubMed Central

March, Dana; Oppenheimer, Gerald M

2014-01-01

Recent scholarship regarding psychiatric epidemiology has focused on shifting notions of mental disorders. In psychiatric epidemiology in the last decades of the 20th century and the first decade of the 21st century, mental disorders have been perceived and treated largely as discrete categories denoting an individual’s mental functioning as either pathological or normal. In the USA, this grew partly out of evolving modern epidemiological work responding to the State’s commitment to measure the national social and economic burdens of psychiatric disorders and subsequently to determine the need for mental health services and to survey these needs over time. Notably absent in these decades have been environmentally oriented approaches to cultivating normal, healthy mental states, approaches initially present after World War II. We focus here on a set of community studies conducted in the 1950s, particularly the Midtown Manhattan study, which grew out of a holistic conception of mental health that depended on social context and had a strong historical affiliation with: the Mental Hygiene Movement and the philosophy of its founder, Adolf Meyer; the epidemiological formation of field studies and population surveys beginning early in the 20th century, often with a health policy agenda; the recognition of increasing chronic disease in the USA; and the radical change in orientation within psychiatry around World War II. We place the Midtown Manhattan study in historical context—a complex narrative of social institutions, professional formation and scientific norms in psychiatry and epidemiology, and social welfare theory that begins during the Progressive era (1890-1920) in the USA. PMID:25031047

Social disorder and diagnostic order: the US Mental Hygiene Movement, the Midtown Manhattan study and the development of psychiatric epidemiology in the 20th century.

PubMed

March, Dana; Oppenheimer, Gerald M

2014-08-01

Recent scholarship regarding psychiatric epidemiology has focused on shifting notions of mental disorders. In psychiatric epidemiology in the last decades of the 20th century and the first decade of the 21st century, mental disorders have been perceived and treated largely as discrete categories denoting an individual's mental functioning as either pathological or normal. In the USA, this grew partly out of evolving modern epidemiological work responding to the State's commitment to measure the national social and economic burdens of psychiatric disorders and subsequently to determine the need for mental health services and to survey these needs over time. Notably absent in these decades have been environmentally oriented approaches to cultivating normal, healthy mental states, approaches initially present after World War II. We focus here on a set of community studies conducted in the 1950s, particularly the Midtown Manhattan study, which grew out of a holistic conception of mental health that depended on social context and had a strong historical affiliation with: the Mental Hygiene Movement and the philosophy of its founder, Adolf Meyer; the epidemiological formation of field studies and population surveys beginning early in the 20th century, often with a health policy agenda; the recognition of increasing chronic disease in the USA; and the radical change in orientation within psychiatry around World War II. We place the Midtown Manhattan study in historical context--a complex narrative of social institutions, professional formation and scientific norms in psychiatry and epidemiology, and social welfare theory that begins during the Progressive era (1890-1920) in the USA. © The Author 2014; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association.

Neuroleptic-induced movement disorders in a naturalistic schizophrenia population: diagnostic value of actometric movement patterns.

PubMed

Janno, Sven; Holi, Matti M; Tuisku, Katinka; Wahlbeck, Kristian

2008-04-18

Neuroleptic-induced movement disorders (NIMDs) have overlapping co-morbidity. Earlier studies have described typical clinical movement patterns for individual NIMDs. This study aimed to identify specific movement patterns for each individual NIMD using actometry. A naturalistic population of 99 schizophrenia inpatients using conventional antipsychotics and clozapine was evaluated. Subjects with NIMDs were categorized using the criteria for NIMD found in the Diagnostic and Statistical Manual for Mental Disorders - Fourth Edition (DSM-IV).Two blinded raters evaluated the actometric-controlled rest activity data for activity periods, rhythmical activity, frequencies, and highest acceleration peaks. A simple subjective question was formulated to test patient-based evaluation of NIMD. The patterns of neuroleptic-induced akathisia (NIA) and pseudoakathisia (PsA) were identifiable in actometry with excellent inter-rater reliability. The answers to the subjective question about troubles with movements distinguished NIA patients from other patients rather well. Also actometry had rather good screening performances in distinguishing akathisia from other NIMD. Actometry was not able to reliably detect patterns of neuroleptic-induced parkinsonism and tardive dyskinesia. The present study showed that pooled NIA and PsA patients had a different pattern in lower limb descriptive actometry than other patients in a non-selected sample. Careful questioning of patients is a useful method of diagnosing NIA in a clinical setting.

What Do Repetitive and Stereotyped Movements Mean for Infant Siblings of Children with Autism Spectrum Disorders?

ERIC Educational Resources Information Center

Damiano, Cara R.; Nahmias, Allison; Hogan-Brown, Abigail L.; Stone, Wendy L.

2013-01-01

Repetitive and stereotyped movements (RSMs) in infancy are associated with later diagnoses of autism spectrum disorder (ASD), yet this relationship has not been fully explored in high-risk populations. The current study investigated how RSMs involving object and body use are related to diagnostic outcomes in infant siblings of children with ASD…

The Role of Vision for Online Control of Manual Aiming Movements in Persons with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Glazebrook, Cheryl M.; Gonzalez, David; Hansen, Steve; Elliott, Digby

2009-01-01

Recent studies suggest motor skills are not entirely spared in individuals with an autism spectrum disorder (ASD). Previous reports demonstrated that young adults with ASD were able to land accurately on a target despite increased temporal and spatial variability during their movement. This study explored how a group of adolescents and young…

Reliability and Responsiveness of the Movement Assessment Battery for Children--Second Edition Test in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Wuang, Yee-Pay; Su, Jui-Hsing; Su, Chwen-Yng

2012-01-01

Aim: To examine the internal consistency, test-retest reliability, and responsiveness of the Movement Assessment Battery for Children--Second Edition (MABC-2) Test for children with developmental coordination disorder (DCD). Method: One hundred and forty-four Taiwanese children with DCD aged 6 to 12 years (87 males, 57 females) were tested on…

Stability and Composition of Functional Synergies for Speech Movements in Children with Developmental Speech Disorders

ERIC Educational Resources Information Center

Terband, H.; Maassen, B.; van Lieshout, P.; Nijland, L.

2011-01-01

The aim of this study was to investigate the consistency and composition of functional synergies for speech movements in children with developmental speech disorders. Kinematic data were collected on the reiterated productions of syllables spa(/spa[image omitted]/) and paas(/pa[image omitted]s/) by 10 6- to 9-year-olds with developmental speech…

Low Dimensional Temporal Organization of Spontaneous Eye Blinks in Adults with Developmental Disabilities and Stereotyped Movement Disorder

ERIC Educational Resources Information Center

Lee, Mei-Hua; Bodfish, James W.; Lewis, Mark H.; Newell, Karl M.

2010-01-01

This study investigated the mean rate and time-dependent sequential organization of spontaneous eye blinks in adults with intellectual and developmental disability (IDD) and individuals from this group who were additionally categorized with stereotypic movement disorder (IDD + SMD). The mean blink rate was lower in the IDD + SMD group than the IDD…

Assessing movement quality in persons with severe mental illness - Reliability and validity of the Body Awareness Scale Movement Quality and Experience.

PubMed

Hedlund, Lena; Gyllensten, Amanda Lundvik; Waldegren, Tomas; Hansson, Lars

2016-05-01

Motor disturbances and disturbed self-recognition are common features that affect mobility in persons with schizophrenia spectrum disorder and bipolar disorder. Physiotherapists in Scandinavia assess and treat movement difficulties in persons with severe mental illness. The Body Awareness Scale Movement Quality and Experience (BAS MQ-E) is a new and shortened version of the commonly used Body Awareness Scale-Health (BAS-H). The purpose of this study was to investigate the inter-rater reliability and the concurrent validity of BAS MQ-E in persons with severe mental illness. The concurrent validity was examined by investigating the relationships between neurological soft signs, alexithymia, fatigue, anxiety, and mastery. Sixty-two persons with severe mental illness participated in the study. The results showed a satisfactory inter-rater reliability (n = 53) and a concurrent validity (n = 62) with neurological soft signs, especially cognitive and perceptual based signs. There was also a concurrent validity linked to physical fatigue and aspects of alexithymia. The scores of BAS MQ-E were in general higher for persons with schizophrenia compared to persons with other diagnoses within the schizophrenia spectrum disorders and bipolar disorder. The clinical implications are presented in the discussion.

Tics and other stereotyped movements as side effects of pharmacological treatment.

PubMed

Madruga-Garrido, Marcos; Mir, Pablo

2013-01-01

Tics and other stereotyped abnormal movements can be seen as adverse effects of some pharmacologic drugs. Among these drugs, antipsychotics may provoke tardive syndromes after a chronic exposure, primarily in the case of typical antipsychotics. These syndromes include tardive tics, tardive dyskinesia, or tardive akathisia, which present with tics or stereotyped movements as a clinical phenomenon. Psychostimulants (mainly methylphenidate) have traditionally been associated with the appearance of tics due to the increased dopamine activity caused by stimulants. Nevertheless, in recent years, several studies have concluded not only that methylphenidate does not exacerbate or reactivate tics but also that tics can improve with its use in patients with associated attention deficit and hyperactivity disorder and tic disorder. Antiepileptic drugs, although infrequently, can also induce tics, with carbamazepine and lamotrigine described as tic inducers. Other antiepileptics, including levetiracetam and topiramate, have been proposed as a potential treatment for tic disorders due to a positive effect on tics, especially in those with associated epileptic disorder. Clinical and therapeutic approaches to tics and stereotyped movements after exposure to antipsychotics, stimulants, and antiepileptic drugs will be reviewed in this chapter. © 2013 Elsevier Inc. All rights reserved.

Thalamic Deep Brain Stimulation for Writer's Cramp.

PubMed

Cho, Chul Bum; Park, Hae Kwan; Lee, Kyung Jin; Rha, Hyoung Kyun

2009-07-01

Writer's cramp is a type of idiopathic focal hand dystonia characterized by muscle cramps that accompany execution of the writing task specifically. There has been renewed interest in neurosurgical procedures for the treatment of dystonia over the past several years. In particular, deep brain stimulation (DBS) has received increasing attention as a therapeutic option for patients with dystonia. However, to date, limited reporters made investigations into DBS in relation to the Writer's cramp. In this case, unilateral Ventro-oralis complex (Vo) DBS resulted in a major improvement in patient's focal dystonic movement disorders. Her post-operative Burke-Fahn-Marsden Dystonia Rating (BFMDR) scale demonstrated 1 compared with pre-operative BFMDR scale 4. We conclude that thalamic Vo complex DBS may be an important neurosurgical therapeutic option for Writer's cramp.

[Complex regional pain syndrome (CRPS) : An update].

PubMed

Dimova, V; Birklein, F

2018-04-17

The acute phase of complex regional pain syndrome (CRPS) is pathophysiologically characterized by an activation of the immune system and its associated inflammatory response. During the course of CRPS, central nervous symptoms like mechanical hyperalgesia, loss of sensation, and body perception disorders develop. Psychological factors such as pain-related anxiety and traumatic events might have a negative effect on the treatment outcome. While the visible inflammatory symptoms improve, the pain often persists. A stage adapted, targeted treatment could improve the prognosis. Effective multidisciplinary treatment includes the following: pharmacotherapy with steroids, bisphosphonates, or dimethylsulfoxide cream (acute phase), and antineuropathic analgesics (all phases); physiotherapy and behavioral therapy for pain-related anxiety and avoidance of movement; and interventional treatment like spinal cord or dorsal root ganglion stimulation if noninvasive options failed.

Chronic Manganese Toxicity Associated with Voltage-Gated Potassium Channel Complex Antibodies in a Relapsing Neuropsychiatric Disorder

PubMed Central

Ho, Cyrus S.H.; Quek, Amy M.L.

2018-01-01

Heavy metal poisoning is a rare but important cause of encephalopathy. Manganese (Mn) toxicity is especially rare in the modern world, and clinicians’ lack of recognition of its neuropsychiatric manifestations can lead to misdiagnosis and mismanagement. We describe the case of a man who presented with recurrent episodes of confusion, psychosis, dystonic limb movement and cognitive impairment and was initially diagnosed with anti-voltage-gated potassium channel (VGKC) complex limbic encephalitis in view of previous positive autoantibodies. His failure to respond to immunotherapy prompted testing for heavy metal poisoning, which was positive for Mn. This is the first report to examine an association between Mn and VGKC antibodies and the effects of Mn on functional brain activity using functional near-infrared spectroscopy (fNIRS). PMID:29669989

Chronic Manganese Toxicity Associated with Voltage-Gated Potassium Channel Complex Antibodies in a Relapsing Neuropsychiatric Disorder.

PubMed

Ho, Cyrus S H; Ho, Roger C M; Quek, Amy M L

2018-04-18

Heavy metal poisoning is a rare but important cause of encephalopathy. Manganese (Mn) toxicity is especially rare in the modern world, and clinicians’ lack of recognition of its neuropsychiatric manifestations can lead to misdiagnosis and mismanagement. We describe the case of a man who presented with recurrent episodes of confusion, psychosis, dystonic limb movement and cognitive impairment and was initially diagnosed with anti-voltage-gated potassium channel (VGKC) complex limbic encephalitis in view of previous positive autoantibodies. His failure to respond to immunotherapy prompted testing for heavy metal poisoning, which was positive for Mn. This is the first report to examine an association between Mn and VGKC antibodies and the effects of Mn on functional brain activity using functional near-infrared spectroscopy (fNIRS).

Impulse control disorders in advanced Parkinson's disease with dyskinesia: The ALTHEA study.

PubMed

Biundo, Roberta; Weis, Luca; Abbruzzese, Giovanni; Calandra-Buonaura, Giovanna; Cortelli, Pietro; Jori, Maria Cristina; Lopiano, Leonardo; Marconi, Roberto; Matinella, Angela; Morgante, Francesca; Nicoletti, Alessandra; Tamburini, Tiziano; Tinazzi, Michele; Zappia, Mario; Vorovenci, Ruxandra Julia; Antonini, Angelo

2017-11-01

Impulse control disorders and dyskinesia are common and disabling complications of dopaminergic treatment in Parkinson's disease. They may coexist and are possibly related. The objectives of this study were to assess the frequency and severity of impulse control disorders in Parkinson's disease patients with dyskinesia. The ALTHEA study enrolled 251 Parkinson's disease patients with various degrees of dyskinesia severity from 11 movement disorders centers in Italy. Each patient underwent a comprehensive assessment including Unified Dyskinesia Rating Scale and the Questionnaire for Impulsive Compulsive Disorders in Parkinson Disease-Rating Scale. There was an overall 55% frequency of impulse control disorder and related behaviors (36% were clinically significant). The positive patients were younger at disease diagnosis and onset and had higher Unified Dyskinesia Rating Scale historical and total score (P = 0.001 and P = 0.02, respectively, vs negative). There was an increased frequency of clinically significant impulse control disorders in patients with severe dyskinesia (P = 0.013), a positive correlation between the questionnaire total score and dopamine agonist dose (P = 0.018), and a trend with levodopa dose. More than half of Parkinson's disease patients with dyskinesia have impulse control disorders and related behaviors, which are frequently clinically significant. Dopaminergic therapy total dose is associated with their severity. Clinicians should carefully assess patients with maladaptive behaviors and dyskinesia because they do not properly evaluate their motor and nonmotor status. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Aggression Regulation in Day Treatment of Eating Disorders: Two-Centre RCT of a Brief Body and Movement-Oriented Intervention.

PubMed

Boerhout, Cees; Swart, Marte; Voskamp, Marjon; Troquete, Nadine A C; van Busschbach, Jooske T; Hoek, Hans W

2017-01-01

The objective is to evaluate a body and movement-oriented intervention on aggression regulation, specifically aimed towards reducing anger internalization in patients with an eating disorder. Patients were randomized to treatment-as-usual (TAU) plus the intervention (n = 38) or to TAU only (n = 32). The intervention was delivered by a psychomotor therapist. TAU consisted of multidisciplinary day treatment (3-5 days per week during 3-9 months). Anger coping (Self-Expression and Control Scale) and eating pathology (Eating Disorder Examination-Self-report Questionnaire) were measured at baseline and follow-up. Differences between pre-intervention and post-intervention scores were tested by using repeated measures ANOVA. The intervention group showed a significantly larger decrease of anger internalization than the control group (η 2  = 0.16, p = 0.001). Both groups showed a significant reduction in eating pathology, but differences between groups were not significant. A body and movement-oriented therapy seems a viable add-on for treating anger internalization in patients with an eating disorder. Copyright © 2016 John Wiley & Sons, Ltd and Eating Disorders Association. © 2016 John Wiley & Sons, Ltd and Eating Disorders Association.

Tourette Syndrome

PubMed Central

Murray, T. J.

1982-01-01

Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine. PMID:21286050

Assessing randomness and complexity in human motion trajectories through analysis of symbolic sequences

PubMed Central

Peng, Zhen; Genewein, Tim; Braun, Daniel A.

2014-01-01

Complexity is a hallmark of intelligent behavior consisting both of regular patterns and random variation. To quantitatively assess the complexity and randomness of human motion, we designed a motor task in which we translated subjects' motion trajectories into strings of symbol sequences. In the first part of the experiment participants were asked to perform self-paced movements to create repetitive patterns, copy pre-specified letter sequences, and generate random movements. To investigate whether the degree of randomness can be manipulated, in the second part of the experiment participants were asked to perform unpredictable movements in the context of a pursuit game, where they received feedback from an online Bayesian predictor guessing their next move. We analyzed symbol sequences representing subjects' motion trajectories with five common complexity measures: predictability, compressibility, approximate entropy, Lempel-Ziv complexity, as well as effective measure complexity. We found that subjects' self-created patterns were the most complex, followed by drawing movements of letters and self-paced random motion. We also found that participants could change the randomness of their behavior depending on context and feedback. Our results suggest that humans can adjust both complexity and regularity in different movement types and contexts and that this can be assessed with information-theoretic measures of the symbolic sequences generated from movement trajectories. PMID:24744716

Stereotypic Movement Disorders.

PubMed

Katherine, Mackenzie

2018-04-01

This review summarizes motor stereotypies in terms of description, prevalence, pathophysiology, diagnosis and management. They are fixed and persistent movements. Stereotypies begin before 3 years of age and continue into adulthood. Primary motor stereotypies occur in children of normal intelligence, whereas secondary stereotypies ensue in the setting of an additional diagnosis such as autism spectrum disorder or other neurologic disorders. They are highly associated with comorbidities such as anxiety, obsessive-compulsive symptoms, inattention, and tics. The pathophysiology of stereotypies involves fronto-striatal overactive dopaminergic pathways, and underactive cholinergic and GABAergic inhibitory pathways. No genetic markers have been identified despite a clear genetic predisposition. Behavioral therapy is the principle treatment. Future studies will focus on identifying genetic markers, and on better understanding the functional and structural neurobiology of these movements. Copyright © 2018 Elsevier Inc. All rights reserved.

Eye movement desensitization and reprocessing therapy for personality disorders in older adults?

PubMed

Gielkens, E M J; Sobczak, S; Van Alphen, S P J

2016-10-01

Eye Movement Desensitization and Reprocessing (EMDR) is a kind of psychotherapy, which is growing in popularity, particularly for treatment of post-traumatic stress disorder (PTSD). When Shapiro first introduced EMDR in 1989, it was approached as a controversial treatment because of lack of evidence. However, nowadays there is growing evidence for EMDR efficacy in PTSD (Mc Guire et al., 2014) and EMDR is recommended by international and national treatment guidelines for PTSD. Moreover, EMDR is also used for the treatment of other anxiety disorders, such as panic disorders (De Jongh et al., 2002). Furthermore, research continues on effects of EMDR in addiction, somatoform disorders and psychosis. So far, there is no empirical research on the efficacy of EMDR treatment in older adults.

Online Control of Prehension Predicts Performance on a Standardized Motor Assessment Test in 8- to 12-Year-Old Children

PubMed Central

Blanchard, Caroline C. V.; McGlashan, Hannah L.; French, Blandine; Sperring, Rachel J.; Petrocochino, Bianca; Holmes, Nicholas P.

2017-01-01

Goal-directed hand movements are guided by sensory information and may be adjusted ‘online,’ during the movement. If the target of a movement unexpectedly changes position, trajectory corrections can be initiated in as little as 100 ms in adults. This rapid visual online control is impaired in children with developmental coordination disorder (DCD), and potentially in other neurodevelopmental conditions. We investigated the visual control of hand movements in children in a ‘center-out’ double-step reaching and grasping task, and examined how parameters of this visuomotor control co-vary with performance on standardized motor tests often used with typically and atypically developing children. Two groups of children aged 8–12 years were asked to reach and grasp an illuminated central ball on a vertically oriented board. On a proportion of trials, and at movement onset, the illumination switched unpredictably to one of four other balls in a center-out configuration (left, right, up, or down). When the target moved, all but one of the children were able to correct their movements before reaching the initial target, at least on some trials, but the latencies to initiate these corrections were longer than those typically reported in the adult literature, ranging from 211 to 581 ms. These later corrections may be due to less developed motor skills in children, or to the increased cognitive and biomechanical complexity of switching movements in four directions. In the first group (n = 187), reaching and grasping parameters significantly predicted standardized movement scores on the MABC-2, most strongly for the aiming and catching component. In the second group (n = 85), these same parameters did not significantly predict scores on the DCDQ′07 parent questionnaire. Our reaching and grasping task provides a sensitive and continuous measure of movement skill that predicts scores on standardized movement tasks used to screen for DCD. PMID:28360874

Symptoms elicited in persons with vestibular dysfunction while performing gaze movements in optic flow environments

PubMed Central

Whitney, Susan L.; Sparto, Patrick J.; Cook, James R.; Redfern, Mark S.; Furman, Joseph M.

2016-01-01

Introduction People with vestibular disorders often experience space and motion discomfort when exposed to moving or highly textured visual scenes. The purpose of this study was to measure the type and severity of symptoms in people with vestibular dysfunction during coordinated head and eye movements in optic flow environments. Methods Seven subjects with vestibular disorders and 25 controls viewed four different full-field optic flow environments on six different visits. The optic flow environments consisted of textures with various contrasts and spatial frequencies. Subjects performed 8 gaze movement tasks, including eye saccades, gaze saccades, and gaze stabilization tasks. Subjects reported symptoms using Subjective Units of Discomfort (SUD) and the Simulator Sickness Questionnaire (SSQ). Self-reported dizziness handicap and space and motion discomfort were also measured. Results/ Conclusion Subjects with vestibular disorders had greater discomfort and experienced greater oculomotor and disorientation symptoms. The magnitude of the symptoms increased during each visit, but did not depend on the optic flow condition. Subjects who reported greater dizziness handicap and space motion discomfort had greater severity of symptoms during the experiment. Symptoms of fatigue, difficulty focusing, and dizziness during the experiment were evident. Compared with controls, subjects with vestibular disorders had less head movement during the gaze saccade tasks. Overall, performance of gaze pursuit and gaze stabilization tasks in moving visual environments elicited greater symptoms in subjects with vestibular disorders compared with healthy subjects. PMID:23549055

Stereotypic movement disorders.

PubMed

Singer, Harvey S

2011-01-01

Stereotypic movements are repetitive, rhythmic, fixed, patterned in form, amplitude, and localization, but purposeless (e.g., hand shaking, waving, body rocking, head nodding). They are commonly seen in children; both in normal children (primary stereotypy) and in individuals with additional behavioral or neurological signs and symptoms (secondary stereotypy). They should be differentiated from compulsions (OCD), tics (tic disorders), trichotillomania, skin picking disorder, or the direct physiological effect of a substance. There is increasing evidence to support a neurobiological mechanism. Response to behavioral and pharmacological therapies is variable. Copyright © 2011 Elsevier B.V. All rights reserved.

Dynamical Origins of Stereotypy: Relation of Postural Movements during Sitting to Stereotyped Movements during Body-Rocking

ERIC Educational Resources Information Center

Newell, Karl M.; Bodfish, James W.

2007-01-01

The relation between the movement dynamic properties of sitting still and of seated body-rocking in adults with stereotyped movement disorder and mental retardation and a contrast group of typically developing age-matched adults was examined. Continuous measurement of sequential displacements in center-of-pressure was made using a force platform…

Goal-Directed and Goal-Less Imitation in Autism Spectrum Disorder

ERIC Educational Resources Information Center

Wild, Kelly S.; Poliakoff, Ellen; Jerrison, Andrew; Gowen, Emma

2012-01-01

To investigate how people with Autism are affected by the presence of goals during imitation, we conducted a study to measure movement kinematics and eye movements during the imitation of goal-directed and goal-less hand movements. Our results showed that a control group imitated changes in movement kinematics and increased the level that they…

From state dissociation to status dissociatus.

PubMed

Antelmi, Elena; Ferri, Raffaele; Iranzo, Alex; Arnulf, Isabelle; Dauvilliers, Yves; Bhatia, Kailash P; Liguori, Rocco; Schenck, Carlos H; Plazzi, Giuseppe

2016-08-01

The states of being are conventionally defined by the simultaneous occurrence of behavioral, neurophysiological and autonomic descriptors. State dissociation disorders are due to the intrusion of features typical of a different state into an ongoing state. Disorders related to these conditions are classified according to the ongoing main state and comprise: 1) Dissociation from prevailing wakefulness as seen in hypnagogic or hypnopompic hallucinations, automatic behaviors, sleep drunkenness, cataplexy and sleep paralysis 2) Dissociation from rapid eye movement (REM) sleep as seen in REM sleep behavior disorder and lucid dreaming and 3) Dissociation from NREM sleep as seen in the disorders of arousal. The extreme expression of states dissociation is characterized by the asynchronous occurrence of the various components of the different states that prevents the recognition of any state of being. This condition has been named status dissociatus. According to the underlying disorders/diseases and to their severity, among status dissociatus we may recognize disorders in which such an extreme dissociation occurs only at night time or intermittently (i.e., autoimmune encephalopathies, narcolepsy type 1 and IgLON5 parasomnia), and others in which it occurs nearly continuously with complete loss of any conventionally defined state of being, and of the circadian pattern (agrypnia excitata). Here, we render a comprehensive review of all diseases/disorders associated with state dissociation and status dissociatus and propose a critical classification of this complex scenario. Copyright © 2015 Elsevier Ltd. All rights reserved.

A Prospective Video-Polysomnographic Analysis of Movements during Physiological Sleep in 100 Healthy Sleepers

PubMed Central

Stefani, Ambra; Gabelia, David; Mitterling, Thomas; Poewe, Werner; Högl, Birgit; Frauscher, Birgit

2015-01-01

Study Objectives: Video-polysomnography (v-PSG) is the gold standard for the diagnosis of sleep disorders. Quantitative assessment of type and distribution of physiological movements during sleep for the differentiation between physiological and pathological motor activity is lacking. We performed a systematic and detailed analysis of movements during physiological sleep using v-PSG technology. Design: Prospective v-PSG investigation. Setting: Academic referral center sleep laboratory. Participants: One hundred healthy sleepers aged 19–77 years recruited from a representative population sample after a two-step screening. Interventions: N/A. Measurements and Results: All subjects underwent v-PSG. In all cases where electromyographic activity > 100 msec duration was visible during sleep in the mentalis, submentalis, flexor digitorum superficialis, or anterior tibialis muscles, the time-synchronized video was analyzed. Visible movements were classified according to movement type and topography, and movement rates were computed for the different sleep stages. A total of 9,790 movements (median 10.2/h, IQR 4.6–16.2) were analyzed: 99.7% were elementary, 0.3% complex. Movement indices were higher in men than women (men: median 13/h, interquartile range 7.1–29.3, women: median 7.9/h, interquartile range 3.4–14.5; P = 0.006). The majority of movements involved the extremities (87.9%) and were classified as focal (53.3%), distal (79.6%), and unilateral (71.5%); 15.3% of movements were associated with arousals. REM-related movements (median 0.8 sec, IQR 0.5–1.2) were shorter than NREM-related movements (median 1.1 sec, IQR 0.8–1.6; P = 0.001). Moreover, REM-related movements were predominantly myocloniform (86.6%), whereas NREM-related movements were more often non-myocloniform (59.1%, P < 0.001). Conclusion: Minor movements are frequent during physiological sleep, and are associated with low arousal rates. REM-related movements were predominantly myocloniform and shorter than NREM movements, indicating different influences on motor control during both sleep states. Citation: Stefani A, Gabelia D, Mitterling T, Poewe W, Högl B, Frauscher B. A prospective video-polysomnographic analysis of movements during physiological sleep in 100 healthy sleepers. SLEEP 2015;38(9):1479–1487. PMID:25669176

Recent Advances in the Genetics of Dystonia

PubMed Central

Xiao, Jianfeng; Vemula, Satya R.

2016-01-01

Dystonia, a common and genetically heterogeneous neurological disorder, was recently defined as “a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.” Via the application of whole-exome sequencing, the genetic landscape of dystonia and closely related movement disorders is becoming exposed. In particular, several “novel” genetic causes have been causally associated with dystonia or dystonia-related disorders over the past 2 years. These genes include PRRT2 (DYT10), CIZ1 (DYT23), ANO3 (DYT24), GNAL (DYT25), and TUBB4A (DYT4). Despite these advances, major gaps remain in identifying the genetic origins for most cases of adult-onset isolated dystonia. Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia. This review focuses on these recent additions to the family of dystonia genes, genotype-phenotype correlations, and possible cellular contributions of the encoded proteins to the development of dystonia. PMID:24952478

State of the Art for Deep Brain Stimulation Therapy in Movement Disorders: A Clinical and Technological Perspective.

PubMed

Wagle Shukla, Aparna; Okun, Michael S

2016-01-01

Deep brain stimulation (DBS) therapy is a widely used brain surgery that can be applied for many neurological and psychiatric disorders. DBS is American Food and Drug Administration approved for medication refractory Parkinson's disease, essential tremor and dystonia. Although DBS has shown consistent success in many clinical trials, the therapy has limitations and there are well-recognized complications. Thus, only carefully selected patients are ideal candidates for this surgery. Over the last two decades, there have been significant advances in clinical knowledge on DBS. In addition, the surgical techniques and technology related to DBS has been rapidly evolving. The goal of this review is to describe the current status of DBS in the context of movement disorders, outline the mechanisms of action for DBS in brief, discuss the standard surgical and imaging techniques, discuss the patient selection and clinical outcomes in each of the movement disorders, and finally, introduce the recent advancements from a clinical and technological perspective.

Influence of stimulant medication and response speed on lateralization of movement-related potentials in attention-deficit/hyperactivity disorder.

PubMed

Bender, Stephan; Resch, Franz; Klein, Christoph; Renner, Tobias; Fallgatter, Andreas J; Weisbrod, Matthias; Romanos, Marcel

2012-01-01

Hyperactivity is one of the core symptoms in attention deficit hyperactivity disorder (ADHD). However, it remains unclear in which way the motor system itself and its development are affected by the disorder. Movement-related potentials (MRP) can separate different stages of movement execution, from the programming of a movement to motor post-processing and memory traces. Pre-movement MRP are absent or positive during early childhood and display a developmental increase of negativity. We examined the influences of response-speed, an indicator of the level of attention, and stimulant medication on lateralized MRP in 16 children with combined type ADHD compared to 20 matched healthy controls. We detected a significantly diminished lateralisation of MRP over the pre-motor and primary motor cortex during movement execution (initial motor potential peak, iMP) in patients with ADHD. Fast reactions (indicating increased visuo-motor attention) led to increased lateralized negativity during movement execution only in healthy controls, while in children with ADHD faster reaction times were associated with more positive amplitudes. Even though stimulant medication had some effect on attenuating group differences in lateralized MRP, this effect was insufficient to normalize lateralized iMP amplitudes. A reduced focal (lateralized) motor cortex activation during the command to muscle contraction points towards an immature motor system and a maturation delay of the (pre-) motor cortex in children with ADHD. A delayed maturation of the neuronal circuitry, which involves primary motor cortex, may contribute to ADHD pathophysiology.

Using Cognitive Pretesting in Scale Development for Parkinson’s Disease: The Movement Disorder Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS) Example

PubMed Central

Tilley, Barbara C.; LaPelle, Nancy R.; Goetz, Christopher G.; Stebbins, Glenn T.

2016-01-01

Background Cognitive pretesting, a qualitative step in scale development, precedes field testing and assesses the difficulty of instrument completion for examiners and respondents. Cognitive pretesting assesses respondent interest, attention span, discomfort, and comprehension, and highlights problems with the logical structure of questions/response options that can affect understanding. In the past this approach was not consistently used in the development or revision of movement disorders scales. Methods We applied qualitative cognitive pretesting using testing guides in development of the Movement Disorder Society-sponsored revision of the Unified Parkinson’s Disease Rating Scale (MDS-UPDRS). The guides were based on qualitative techniques, verbal probing and “think-aloud” interviewing, to identify problems with the scale from the patient and rater perspectives. English-speaking Parkinson’s disease patients and movement disorders specialists (raters) from multiple specialty clinics in the United States, Western Europe and Canada used the MDS-UPDRS and completed the testing guides. Results Two rounds of cognitive pretesting were necessary before proceeding to field testing of the revised scale to assess clinimetric properties. Scale revisions based on cognitive pretesting included changes in phrasing, simplification of some questions, and addition of a reassuring statement explaining that not all PD patients experience the symptoms described in the questions. Conclusions The strategy of incorporating cognitive pretesting into scale development and revision provides a model for other movement disorders scales. Cognitive pretesting is being used in translating the MDS-UPDRS into multiple languages to improve comprehension and acceptance and in the development of a new Unified Dyskinesia Rating Scale for Parkinson’s disease patients. PMID:24613868

Through the Kinesthetic Lens: Observation of Social Attunement in Autism Spectrum Disorders.

PubMed

Samaritter, Rosemarie; Payne, Helen

2017-03-18

This paper will present a movement-informed perspective to social attunement in Autism Spectrum Disorders (ASD). Dance movement therapy (DMT) is a psychotherapeutic intervention that is used with participants with ASD in various settings. Regular clinical outcome monitoring in an outpatient setting in the Netherlands had shown positive effects on social attunement capacities in young people with ASD. However, a systematic study of the development of social attunement movement behaviors of participants with ASD throughout a DMT intervention was not yet available. A series of individual cases of DMT with young people with ASD (mean age 12.2 years.) were analyzed for changes in interpersonal movement behaviors employing video-based retrospective observation. The findings were summarized in an observation scale for interpersonal movement behaviors. This scale was then tested for its applicability for the monitoring of social attunement behaviors throughout therapy. A movement-informed perspective may be helpful to inventory changes in social attunement behaviors in participants with ASD. The relevance of a movement-informed perspective for the concept of social attunement in ASD will be discussed.

Through the Kinesthetic Lens: Observation of Social Attunement in Autism Spectrum Disorders

PubMed Central

Samaritter, Rosemarie; Payne, Helen

2017-01-01

This paper will present a movement-informed perspective to social attunement in Autism Spectrum Disorders (ASD). Background: Dance movement therapy (DMT) is a psychotherapeutic intervention that is used with participants with ASD in various settings. Regular clinical outcome monitoring in an outpatient setting in the Netherlands had shown positive effects on social attunement capacities in young people with ASD. However, a systematic study of the development of social attunement movement behaviors of participants with ASD throughout a DMT intervention was not yet available. Methods: A series of individual cases of DMT with young people with ASD (mean age 12.2 years.) were analyzed for changes in interpersonal movement behaviors employing video-based retrospective observation. Results: The findings were summarized in an observation scale for interpersonal movement behaviors. This scale was then tested for its applicability for the monitoring of social attunement behaviors throughout therapy. Discussion: A movement-informed perspective may be helpful to inventory changes in social attunement behaviors in participants with ASD. The relevance of a movement-informed perspective for the concept of social attunement in ASD will be discussed. PMID:28335467

Rethinking status dystonicus.

PubMed

Ruiz-Lopez, Marta; Fasano, Alfonso

2017-12-01

Status dystonicus is a movement disorder emergency that has been a source of controversy in terms of terminology, phenomenology, and management since it was first described in 1982. Here we argue that the current use of the term status dystonicus falls well short of the precision needed for either clinical or academic use. We performed a critical review on this topic, describing possible pathophysiological mechanisms and areas of uncertainties. This review also addresses the problems derived by the extreme clinical heterogeneity of this condition, as the lack of an objective criterion useful for the definition, or the fact that status dystonicus may present not only in the context of a known dystonic syndrome. We propose a new possible definition that includes not only dystonia but also other hyperkinetic movements in the wide range of movement disorders that can be seen during an episode. The new definition keeps the term status dystonicus and highlights the fact that this is a medical emergency based on the impairment of bulbar and/or respiratory function requiring hospital admission as the principal feature. Furthermore, the new definition should not consider as necessary unspecific features as patient's condition at baseline, the distribution of dystonia, occurrence of systemic symptoms such as fever or laboratory findings. We hope that this proposal will stimulate the debate on this subject among our peers, further developing a clinical and pathophysiological understanding of status dystonicus. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Hemichorea-hemiballismus as an initial manifestation in a Moroccan patient with acquired immunodeficiency syndrome and toxoplasma infection: a case report and review of the literature.

PubMed

Rabhi, Samira; Amrani, Kawthar; Maaroufi, Mustapha; Khammar, Zineb; Khibri, Hajar; Ouazzani, Maha; Berrady, Rhizlane; Tizniti, Siham; Messouak, Ouafae; Belahsen, Faouzy; Bono, Wafaa

2011-01-01

Neurologic signs and symptoms may represent the initial presentation of AIDS in 10-30% of patients. Movement disorders may be the result of direct central nervous system infection by human immunodeficiency virus (HIV) or the result of opportunistic infections. We report the case of a 59 years old woman who had hemichorea-hemiballismus subsequently found to be secondary to a cerebral toxoplasmosis infection revealing HIV infection. Movement disorders, headache and nausea were resolved after two weeks of antitoxoplasmic treatment. Brain MRI control showed a marked resolution of cerebral lesion. Occurrence of hemichorea-ballismus in patient without familial history of movement disorders suggests a diagnosis of AIDS and in particular the diagnosis of secondary cerebral toxoplasmosis. Early recognition is important since it is a treatable entity.

Targets for future clinical trials in Huntington's disease: what's in the pipeline?

PubMed

Wild, Edward J; Tabrizi, Sarah J

2014-09-15

The known genetic cause of Huntington's disease (HD) has fueled considerable progress in understanding its pathobiology and the development of therapeutic approaches aimed at correcting specific changes linked to the causative mutation. Among the most promising is reducing expression of mutant huntingtin protein (mHTT) with RNA interference or antisense oligonucleotides; human trials are now being planned. Zinc-finger transcriptional repression is another innovative method to reduce mHTT expression. Modulation of mHTT phosphorylation, chaperone upregulation, and autophagy enhancement represent attempts to alter cellular homeostasis to favor removal of mHTT. Inhibition of histone deacetylases (HDACs) remains of interest; recent work affirms HDAC4 as a target but questions the assumed centrality of its catalytic activity in HD. Phosphodiesterase inhibition, aimed at restoring synaptic function, has progressed rapidly to human trials. Deranged cellular signaling provides several tractable targets, but specificity and complexity are challenges. Restoring neurotrophic support in HD remains a key potential therapeutic approach. with several approaches being pursued, including brain-derived neurotrophic factor (BDNF) mimesis through tyrosine receptor kinase B (TrkB) agonism and monoclonal antibodies. An increasing understanding of the role of glial cells in HD has led to several new therapeutic avenues, including kynurenine monooxygenase inhibition, immunomodulation by laquinimod, CB2 agonism, and others. The complex metabolic derangements in HD remain under study, but no clear therapeutic strategy has yet emerged. We conclude that many exciting therapeutics are progressing through the development pipeline, and combining a better understanding of HD biology in human patients, with concerted medicinal chemistry efforts, will be crucial for bringing about an era of effective therapies. © 2014 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Neuroleptic-induced movement disorders in a naturalistic schizophrenia population: diagnostic value of actometric movement patterns

PubMed Central

Janno, Sven; Holi, Matti M; Tuisku, Katinka; Wahlbeck, Kristian

2008-01-01

Background Neuroleptic-induced movement disorders (NIMDs) have overlapping co-morbidity. Earlier studies have described typical clinical movement patterns for individual NIMDs. This study aimed to identify specific movement patterns for each individual NIMD using actometry. Methods A naturalistic population of 99 schizophrenia inpatients using conventional antipsychotics and clozapine was evaluated. Subjects with NIMDs were categorized using the criteria for NIMD found in the Diagnostic and Statistical Manual for Mental Disorders – Fourth Edition (DSM-IV). Two blinded raters evaluated the actometric-controlled rest activity data for activity periods, rhythmical activity, frequencies, and highest acceleration peaks. A simple subjective question was formulated to test patient-based evaluation of NIMD. Results The patterns of neuroleptic-induced akathisia (NIA) and pseudoakathisia (PsA) were identifiable in actometry with excellent inter-rater reliability. The answers to the subjective question about troubles with movements distinguished NIA patients from other patients rather well. Also actometry had rather good screening performances in distinguishing akathisia from other NIMD. Actometry was not able to reliably detect patterns of neuroleptic-induced parkinsonism and tardive dyskinesia. Conclusion The present study showed that pooled NIA and PsA patients had a different pattern in lower limb descriptive actometry than other patients in a non-selected sample. Careful questioning of patients is a useful method of diagnosing NIA in a clinical setting. PMID:18419829

Basal ganglia structure in Tourette's disorder and/or attention-deficit/hyperactivity disorder.

PubMed

Forde, Natalie J; Zwiers, Marcel P; Naaijen, Jilly; Akkermans, Sophie E A; Openneer, Thaira J C; Visscher, Frank; Dietrich, Andrea; Buitelaar, Jan K; Hoekstra, Pieter J

2017-04-01

Tourette's disorder and attention-deficit/hyperactivity disorder often co-occur and have both been associated with structural variation of the basal ganglia. However, findings are inconsistent and comorbidity is often neglected. T1-weighted magnetic resonance images from children (n = 141, 8 to 12 years) with Tourette's disorder and/or attention-deficit/hyperactivity disorder and controls were processed with the Oxford Centre for Functional MRI [Magnetic resonance imaging] of the Brain (FMRIB) integrated registration and segmentation tool to determine basal ganglia nuclei volume and shape. Across all participants, basal ganglia nuclei volume and shape were estimated in relation to Tourette's disorder (categorical), attention-deficit/hyperactivity disorder severity (continuous across all participants), and their interaction. The analysis revealed no differences in basal ganglia nuclei volumes or shape between children with and without Tourette's disorder, no association with attention-deficit/hyperactivity disorder severity, and no interaction between the two. We found no evidence that Tourette's disorder, attention-deficit/hyperactivity disorder severity, or a combination thereof are associated with structural variation of the basal ganglia in 8- to 12-year-old patients. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Paroxysmal eye–head movements in Glut1 deficiency syndrome

PubMed Central

Engelstad, Kristin; Kane, Steven A.; Goldberg, Michael E.; De Vivo, Darryl C.

2017-01-01

Objective: To describe a characteristic paroxysmal eye–head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). Methods: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. Results: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually <5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye–head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement. Conclusions: Paroxysmal eye–head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder. PMID:28341645

Efficacy of parent-delivered behavioral therapy for primary complex motor stereotypies.

PubMed

Specht, Matthew W; Mahone, E Mark; Kline, Tina; Waranch, Richard; Brabson, Laurel; Thompson, Carol B; Singer, Harvey S

2017-02-01

Primary complex motor stereotypies (CMS) are persistent, patterned, repetitive, rhythmic movements in young people with typical development. This study evaluated the efficacy of an instructional DVD as a home-based, parent-administered, behavioral therapy for primary CMS. Eighty-one children with primary CMS were enrolled. Primary outcome measures included the Stereotypy Severity Scale (SSS) - Motor and Impairment scores, and Stereotypy Linear Analog Scale (SLAS). Mean CMS onset was 13.4 months (SD 13.1). Eligibility required observed CMS. Psychiatric disorders were not exclusionary and a stable medication regimen was required. Intellectual disability, neurological disorder, autism spectrum disorder, and tics were exclusionary. Initial assessments were completed via REDCap before receipt of the DVD. Fifty-four of the 81 children (34 male, 20 female; mean age 8y 2mo, SD 1.42, range 7-14y) completed assessments at 1, 2, or 3 months after receiving the DVD. Reductions (baseline to last assessment) in SSS Motor, SSS Impairment, and SLAS scores (all p<0.001) represented change ratios of -15%, -24%, and a -20% respectively. Greatest relative treatment benefit was observed by younger children (ages 7-8y), and by 1 month after receipt of DVD, while a parent global assessment scale showed progressive improvement throughout the study. An instructional DVD for parent-delivered behavioral therapy was a safe, effective intervention for primary CMS. © 2016 Mac Keith Press.

Efficacy of parent-delivered behavioral therapy for primary complex motor stereotypies

PubMed Central

Specht, Matthew W; Mahone, E Mark; Kline, Tina; Waranch, Richard; Brabson, Laurel; Thompson, Carol B; Singer, Harvey S

2016-01-01

Aim ‘Primary’ complex motor stereotypies (CMS) are persistent, patterned, repetitive, rhythmic movements in young people with typical development. This study evaluated the efficacy of an instructional DVD as a home-based, parent-administered, behavioral therapy for primary CMS. Method Eighty-one children with primary CMS were enrolled. Primary outcome measures included the Stereotypy Severity Scale (SSS) – Motor and Impairment scores, and Stereotypy Linear Analog Scale (SLAS). Mean CMS onset was 13.4 months (SD 13.1). Eligibility required observed CMS. Psychiatric disorders were not exclusionary and a stable medication regimen was required. Intellectual disability, neurological disorder, autism spectrum disorder, and tics were exclusionary. Initial assessments were completed via REDCap before receipt of the DVD. Fifty-four of the 81 children (34 male, 20 female; mean age 8y 2mo, SD 1.42, range 7–14y) completed assessments at 1, 2, or 3 months after receiving the DVD. Results Reductions (baseline to last assessment) in SSS Motor, SSS Impairment, and SLAS scores (all p<0.001) represented change ratios of –15%, –24%, and a –20%, respectively. Greatest relative treatment benefit was observed by younger children (ages 7–8y), and by one month after receipt of DVD, while a parent global assessment scale showed progressive improvement throughout the study. Interpretation An instructional DVD for parent-delivered behavioral therapy was a safe, effective intervention for primary CMS. PMID:27259464

Eye Movement Desensitisation and Reprocessing Therapy for Posttraumatic Stress Disorder in a Child and an Adolescent with Mild to Borderline Intellectual Disability: A Multiple Baseline across Subjects Study

ERIC Educational Resources Information Center

Mevissen, Liesbeth; Didden, Robert; Korzilius, Hubert; de Jongh, Ad

2017-01-01

Background: This study explored the effectiveness of eye movement desensitisation and reprocessing (EMDR) therapy for post-traumatic stress disorder (PTSD) in persons with mild to borderline intellectual disability (MBID) using a multiple baseline across subjects design. Methods: One child and one adolescent with MBID, who met diagnostic criteria…

Study of the Neurophysiology of Central Fatigue

DTIC Science & Technology

2014-11-05

AGENCY NAME(S) AND ADDRESS (ES) U.S. Army Research Office P.O. Box 12211 Research Triangle Park, NC 27709-2211 cognitive, fatigue, fatigability...Fatigability in Parkinson Disease. Movement Disorders 2012;27:e6. 4. Wang C, Ding M, Kluger BM. High-density EEG study of cue-evoked preparatory...258. 3. Kluger B, Wang C, Proemsey J, Ding M. Neuronal Correlates of Executive Dysfunction and Fatigability in Parkinson Disease. Movement Disorders

An MEG Investigation of Neural Biomarkers and Language in Nonverbal Children with Autism Spectrum Disorders

DTIC Science & Technology

2014-09-01

Award Number: W81XWH-13-1-0293 TITLE: An MEG Investigation of Neural Biomarkers and Language in...SUBTITLE 5a. CONTRACT NUMBER An MEG Investigation of Neural Biomarkers and Language in Nonverbal Children with Autism Spectrum Disorders 5b...technique to correct MEG data for subject movement during recording. This correction reduces signal loss due to movement, resulting in higher

Applying Movement Ecology to Marine Animals with Complex Life Cycles.

PubMed

Allen, Richard M; Metaxas, Anna; Snelgrove, Paul V R

2018-01-03

Marine animals with complex life cycles may move passively or actively for fertilization, dispersal, predator avoidance, resource acquisition, and migration, and over scales from micrometers to thousands of kilometers. This diversity has catalyzed idiosyncratic and unfocused research, creating unsound paradigms regarding the role of movement in ecology and evolution. The emerging movement ecology paradigm offers a framework to consolidate movement research independent of taxon, life-history stage, scale, or discipline. This review applies the framework to movement among life-history stages in marine animals with complex life cycles to consolidate marine movement research and offer insights for scientists working in aquatic and terrestrial realms. Irrespective of data collection or simulation strategy, breaking each life-history stage down into the fundamental units of movement allows each unit to be studied independently or interactively with other units. Understanding these underlying mechanisms of movement within each life-history stage can then be used to construct lifetime movement paths. These paths can allow further investigation of the relative contributions and interdependencies of steps and phases across a lifetime and how these paths influence larger research topics, such as population-level movements.

Applying Movement Ecology to Marine Animals with Complex Life Cycles

NASA Astrophysics Data System (ADS)

Allen, Richard M.; Metaxas, Anna; Snelgrove, Paul V. R.

2018-01-01

Marine animals with complex life cycles may move passively or actively for fertilization, dispersal, predator avoidance, resource acquisition, and migration, and over scales from micrometers to thousands of kilometers. This diversity has catalyzed idiosyncratic and unfocused research, creating unsound paradigms regarding the role of movement in ecology and evolution. The emerging movement ecology paradigm offers a framework to consolidate movement research independent of taxon, life-history stage, scale, or discipline. This review applies the framework to movement among life-history stages in marine animals with complex life cycles to consolidate marine movement research and offer insights for scientists working in aquatic and terrestrial realms. Irrespective of data collection or simulation strategy, breaking each life-history stage down into the fundamental units of movement allows each unit to be studied independently or interactively with other units. Understanding these underlying mechanisms of movement within each life-history stage can then be used to construct lifetime movement paths. These paths can allow further investigation of the relative contributions and interdependencies of steps and phases across a lifetime and how these paths influence larger research topics, such as population-level movements.

Transcranial sonography in movement disorders: an interesting tool for diagnostic perspectives.

PubMed

Sanzaro, E; Iemolo, F

2016-03-01

Transcranial sonography has become an important tool for the diagnosis of various movement disorders. In most patients with idiopathic Parkinson disease, a markedly hyperechogenic substantia nigra (SN) was detected on at least one side. We have highlighted the sonographic features that might help the differential diagnosis of PD and other movement disorders. Our investigation involved 30 patients (age 45-85 years) with idiopathic Parkinson disease, 2 multiple system atrophy, 3 progressive supranuclear palsy and 2 patients with restless legs syndrome. In accordance with several previous studies, we detected hyperechogenicity of the SN by TCS in 90% of patients with idiopathic Parkinson disease. Subjects with a marked severity disease had a larger extent of the hyperechogenic SN signal. All progressive supranuclear palsy patients had an enlarged third ventricle and, in two cases, we observed the presence of hyperechoic areas in the lentiform nucleus. This last ultrasonographic feature was also seen in our patients with multiple system atrophy. TCS abnormalities of the SN, midbrain raphe and basal ganglia are characteristics of several movement and affective disorders. These features are less easily detected by other techniques, such as CT and MRI, which enable the exclusion of structural lesions, such as tumours and multi-infarct disease, because the physical principle differs from other imaging methods.

Human swallowing simulation based on videofluorography images using Hamiltonian MPS method

NASA Astrophysics Data System (ADS)

Kikuchi, Takahiro; Michiwaki, Yukihiro; Kamiya, Tetsu; Toyama, Yoshio; Tamai, Tasuku; Koshizuka, Seiichi

2015-09-01

In developed nations, swallowing disorders and aspiration pneumonia have become serious problems. We developed a method to simulate the behavior of the organs involved in swallowing to clarify the mechanisms of swallowing and aspiration. The shape model is based on anatomically realistic geometry, and the motion model utilizes forced displacements based on realistic dynamic images to reflect the mechanisms of human swallowing. The soft tissue organs are modeled as nonlinear elastic material using the Hamiltonian MPS method. This method allows for stable simulation of the complex swallowing movement. A penalty method using metaballs is employed to simulate contact between organ walls and smooth sliding along the walls. We performed four numerical simulations under different analysis conditions to represent four cases of swallowing, including a healthy volunteer and a patient with a swallowing disorder. The simulation results were compared to examine the epiglottic downfolding mechanism, which strongly influences the risk of aspiration.

REM sleep behavior disorder in Parkinson's disease and dementia with Lewy bodies.

PubMed

Boeve, Bradley F; Silber, Michael H; Ferman, Tanis J

2004-09-01

Rapid eye movement (REM) sleep behavior disorder (RBD) is a parasomnia manifested by vivid, often frightening dreams associated with simple or complex motor behavior during REM sleep. Patients appear to "act out their dreams," in which the exhibited behaviors mirror the content of the dreams. Management of RBD involves counseling about safety measures in the sleep environment; in those at risk for injury, clonazepam and/or melatonin is usually effective. In this article, the authors present a detailed review of the clinical and polysomnographic features, differential diagnosis, diagnostic criteria, management strategies, and pathophysiologic mechanisms of RBD. They then review the literature and their institutional experience of RBD associated with neurodegenerative disease, particularly Parkinson's disease and dementia with Lewy bodies. The evolving data suggests that RBD may have clinical diagnostic and pathophysiologic significance in isolation and when associated with neurodegenerative disease.

Sleep disturbances in voltage-gated potassium channel antibody syndrome.

PubMed

Barone, Daniel A; Krieger, Ana C

2016-05-01

Voltage-gated potassium channels (VGKCs) are a family of membrane proteins responsible for controlling cell membrane potential. The presence of antibodies (Ab) against neuronal VGKC complexes aids in the diagnosis of idiopathic and paraneoplastic autoimmune neurologic disorders. The diagnosis of VGKC Ab-associated encephalopathy (VCKC Ab syndrome) should be suspected in patients with subacute onset of disorientation, confusion, and memory loss in the presence of seizures or a movement disorder. VGKC Ab syndrome may present with sleep-related symptoms, and the purpose of this communication is to alert sleep and neurology clinicians of this still-under-recognized condition. In this case, we are presenting the VGKC Ab syndrome which improved after treatment with solumedrol. The prompt recognition and treatment of this condition may prevent the morbidity associated with cerebral atrophy and the mortality associated with intractable seizures and electrolyte disturbances. Copyright © 2016. Published by Elsevier B.V.

Complex impairment of IA muscle proprioceptors following traumatic or neurotoxic injury.

PubMed

Vincent, Jacob A; Nardelli, Paul; Gabriel, Hanna M; Deardorff, Adam S; Cope, Timothy C

2015-08-01

The health of primary sensory afferents supplying muscle has to be a first consideration in assessing deficits in proprioception and related motor functions. Here we discuss the role of a particular proprioceptor, the IA muscle spindle proprioceptor in causing movement disorders in response to either regeneration of a sectioned peripheral nerve or damage from neurotoxic chemotherapy. For each condition, there is a single preferred and widely repeated explanation for disability of movements associated with proprioceptive function. We present a mix of published and preliminary findings from our laboratory, largely from in vivo electrophysiological study of treated rats to demonstrate newly discovered IA afferent defects that seem likely to make important contributions to movement disorders. First, we argue that reconnection of regenerated IA afferents with inappropriate targets, although often repeated as the reason for lost stretch-reflex contraction, is not a complete explanation. We present evidence that despite successful recovery of stretch-evoked sensory signaling, peripherally regenerated IA afferents retract synapses made with motoneurons in the spinal cord. Second, we point to evidence that movement disability suffered by human subjects months after discontinuation of oxaliplatin (OX) chemotherapy for some is not accompanied by peripheral neuropathy, which is the acknowledged primary cause of disability. Our studies of OX-treated rats suggest a novel additional explanation in showing the loss of sustained repetitive firing of IA afferents during static muscle stretch. Newly extended investigation reproduces this effect in normal rats with drugs that block Na(+) channels apparently involved in encoding static IA afferent firing. Overall, these findings highlight multiplicity in IA afferent deficits that must be taken into account in understanding proprioceptive disability, and that present new avenues and possible advantages for developing effective treatment. Extending the study of IA afferent deficits yielded the additional benefit of elucidating normal processes in IA afferent mechanosensory function. © 2015 Anatomical Society.

Gait Balance Disorder by Thalamic Infarction with the Disorder of Interstitial Nucleus of Cajal

PubMed Central

Kurosu, A.; Hayashi, Y.; Wada, K.; Nagaoka, M.

2011-01-01

The interstitial nucleus of Cajal (INC) is thought to play an important role in torsional/vertical eye position and head posture, and disorders of the INC induce abnormal ocular movements and head tilt. Our patients with ocular tilt reactions simultaneously also had disturbances in ambulatory balance, yet no reports address the loss of balance control induced by disorders of the INC. We examined the ambulatory disturbances induced by INC lesion. We experienced three patients with ocular movement disorders and abnormal head tilt due to thalamic infarction. We performed ophthalmic examinations on and checked the balance of them. With funduscopy, abnormal cycloduction was seen in the unaffected side and normal cycloduction was observed in the affected side. Nevertheless, Hess charts showed distortions in the visual image of both eyes. They all had disorders of balance control. We tried to treat them using the Bobath approach for improving their ambulatory balance. With subsequent improvements in balance control it was possible for them to take short walks, but it was difficult to make any improvements in their ocular movement. The INC is related to balance control of ambulation and disorders of the INC induce ambulatory disturbances. Cycloduction was only observed in the unaffected side, but Hess charts showed distortions of the visual image in both eyes. Ambulation was briefly improved, but diplopia persisted in these patients. PMID:21769260

Diphenhydramine Injection

MedlinePlus

... or along with other medications to control abnormal movements in people who have Parkinsonian syndrome (a disorder of the nervous system that causes difficulties with movement, muscle control, and balance). Diphenhydramine injection should not ...

Parkinson's Disease Diagnostic Observations (PADDO): study rationale and design of a prospective cohort study for early differentiation of parkinsonism.

PubMed

van Rumund, Anouke; Aerts, Marjolein B; Esselink, Rianne A J; Meijer, Frederick J A; Verbeek, Marcel M; Bloem, Bastiaan R

2018-05-16

Differentiation of Parkinson's disease (PD) from the various types of atypical parkinsonism (AP) such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), dementia with Lewy bodies (DLB), corticobasal syndrome (CBS) and vascular parkinsonism (VP), can be challenging, especially early in the disease course when symptoms overlap. A major unmet need in the diagnostic workup of these disorders is a diagnostic tool that differentiates the various disorders, preferably in the earliest disease stages when the clinical presentation is similar. Many diagnostic tests have been evaluated, but their added value was studied mostly in retrospective case-control studies that included patients with a straightforward clinical diagnosis. Here, we describe the design of a prospective cohort study in patients with parkinsonism in an early disease stage who have an uncertain clinical diagnosis. Our aim is to evaluate the diagnostic accuracy of (1) detailed clinical examination by a movement disorder specialist, (2) magnetic resonance imaging (MRI) techniques and (3) cerebrospinal fluid (CSF) biomarkers. Patients with parkinsonism with an uncertain clinical diagnosis and a disease course less than three years will be recruited. Patients will undergo extensive neurological examination, brain MRI including conventional and advanced sequences, and a lumbar puncture. The diagnosis (including level of certainty) will be defined by a movement disorders expert, neuroradiologist and neurochemist based on clinical data, MRI results and CSF results, respectively. The clinical diagnosis after three years' follow-up will serve as the "gold standard" reference diagnosis, based on consensus criteria and as established by two movement disorder specialists (blinded to the test results). Diagnostic accuracy of individual instruments and added value of brain MRI and CSF analysis after evaluation by a movement disorder expert will be calculated, expressed as the change in percentage of individuals that are correctly diagnosed with PD or AP. This study will yield new insights into the diagnostic value of clinical evaluation by a movement disorder specialist, brain MRI and CSF analysis in discriminating PD from AP in early disease stages. The outcome has the potential to help clinicians in choosing the optimal diagnostic strategy for patients with an uncertain clinical diagnosis. NCT01249768, registered November 26 2010.

Case vignettes of movement disorders.

PubMed

Yung, C Y

1983-08-01

This paper reports five movement disorders cases to serve as a basis for discussion of the problems encountered in the clinical management of these cases, and the pathophysiological mechanisms involved in these disorders as presented. Case 1 is a description of the subjective experience of a patient with acute orofacial dystonia from promethazine. Case 2 is the use of clonazepam is post-head injury tics. Case 3 is the complication from discontinuation of haloperidol and benztropine mesylate treatment. Case 4 is myoclonus in subacute sclerosing Panencephalitis, and Case 5 is rebound tremor from withdrawal of a beta-adrenergic blocker.

Mobilization of Peripheral Blood Stem Cells and Changes in the Concentration of Plasma Factors Influencing their Movement in Patients with Panic Disorder.

PubMed

Jabłoński, Marcin; Mazur, Jolanta Kucharska; Tarnowski, Maciej; Dołęgowska, Barbara; Pędziwiatr, Daniel; Kubiś, Ewa; Budkowska, Marta; Sałata, Daria; Wysiecka, Justyna Pełka; Kazimierczak, Arkadiusz; Reginia, Artur; Ratajczak, Mariusz Z; Samochowiec, Jerzy

2017-04-01

In this paper we examined whether stem cells and factors responsible for their movement may serve as new biological markers of anxiety disorders. The study was carried out on a group of 30 patients diagnosed with panic disorder (examined before and after treatment), compared to 30 healthy individuals forming the control group. We examined the number of circulating HSCs (hematopoetic stem cells) (Lin-/CD45 +/CD34 +) and HSCs (Lin-/CD45 +/AC133 +), the number of circulating VSELs (very small embryonic-like stem cells) (Lin-/CD45-/CD34 +) and VSELs (Lin-/CD45-/AC133 +), as well as the concentration of complement components: C3a, C5a and C5b-9, SDF-1 (stromal derived factor) and S1P (sphingosine-1-phosphate). Significantly lower levels of HSCs (Lin-/CD45 +/AC133 +) have been demonstrated in the patient group compared to the control group both before and after treatment. The level of VSELs (Lin-/CD45-/CD133 +) was significantly lower in the patient group before treatment as compared to the patient group after treatment.The levels of factors responsible for stem cell movement were significantly lower in the patient group compared to the control group before and after treatment. It was concluded that the study of stem cells and factors associated with their movement can be useful in the diagnostics of panic disorder, as well as differentiating between psychotic and anxiety disorders.

[Sleep disturbances in Parkinson's disease: characteristics, evaluation and therapeutic approaches].

PubMed

Faludi, Béla; Janszky, József; Komoly, Sámuel; Kovács, Norbert

2015-07-05

Parkinson's disease is a well known representent of the movement disorder group of neurological disorders. The diagnosis of Parkinson's disease is based on specific symptoms and signs of movement abnormalities. In addition to classic motor symptoms, Parkinson's disease has characteristic non-motor features, and some of these emerges the classic signs. The authors discuss characteristics and therapeutic interventions in Parkinson's disease related sleep disturbances. The authors reviewed and summarised literature data on sleep disorders in Parkinson's disease published in the PubMed database up to January 2015. Sleep problems are important non-motor complains (insomnia, hypersomnia, REM behaviour disorder, sleep apnea and restless legs syndrome). The neurodegenerative process of the brain-stem, the effect of symptoms of Parkinson's disease on sleep and concomitant sleep disorders constitute the background of the patient's complains. Appropriate diagnosis and therapy of the consequential or concomitant sleep disorders in Parkinson's disease will help to improve the patient's quality of life.

Functional (psychogenic) movement disorders: merging mind and brain.

PubMed

Edwards, Mark J; Bhatia, Kailash P

2012-03-01

Functional (psychogenic) movement disorders (FMD) are part of the wide spectrum of functional neurological disorders, which together account for over 16% of patients referred to neurology clinics. FMD have been described as a "crisis for neurology" and cause major challenges in terms of diagnosis and treatment. As with other functional disorders, a key issue is the absence of pathophysiological understanding. There has been an influential historical emphasis on causation by emotional trauma, which is not supported by epidemiological studies. The similarity between physical signs in functional disorders and those that occur in feigned illness has also raised important challenges for pathophysiological understanding and has challenged health professionals' attitudes toward patients with these disorders. However, physical signs and selected investigations can help clinicians to reach a positive diagnosis, and modern pathophysiological research is showing an appreciation of the importance of both physical and psychological factors in FMD. Copyright © 2012 Elsevier Ltd. All rights reserved.

The Moving Rubber Hand Illusion Reveals that Explicit Sense of Agency for Tapping Movements Is Preserved in Functional Movement Disorders

PubMed Central

Marotta, Angela; Bombieri, Federica; Zampini, Massimiliano; Schena, Federico; Dallocchio, Carlo; Fiorio, Mirta; Tinazzi, Michele

2017-01-01

Functional movement disorders (FMD) are characterized by motor symptoms (e.g., tremor, gait disorder, and dystonia) that are not compatible with movement abnormalities related to a known organic cause. One key clinical feature of FMD is that motor symptoms are similar to voluntary movements but are subjectively experienced as involuntary by patients. This gap might be related to abnormal self-recognition of bodily action, which involves two main components: sense of agency and sense of body ownership. The aim of this study was to systematically investigate whether this function is altered in FMD, specifically focusing on the subjective feeling of agency, body ownership, and their interaction during normal voluntary movements. Patients with FMD (n = 21) and healthy controls (n = 21) underwent the moving Rubber Hand Illusion (mRHI), in which passive and active movements can differentially elicit agency, ownership or both. Explicit measures of agency and ownership were obtained via a questionnaire. Patients and controls showed a similar pattern of response: when the rubber hand was in a plausible posture, active movements elicited strong agency and ownership; implausible posture of the rubber hand abolished ownership but not agency; passive movements suppressed agency but not ownership. These findings suggest that explicit sense of agency and body ownership are preserved in FMD. The latter finding is shared by a previous study in FMD using a static version of the RHI, whereas the former appears to contrast with studies demonstrating altered implicit measures of agency (e.g., sensory attenuation). Our study extends previous findings by suggesting that in FMD: (i) the sense of body ownership is retained also when interacting with the motor system; (ii) the subjective experience of agency for voluntary tapping movements, as measured by means of mRHI, is preserved. PMID:28634447

Voluntary inhibitory motor control over involuntary tic movements.

PubMed

Ganos, Christos; Rothwell, John; Haggard, Patrick

2018-03-06

Inhibitory control is crucial for normal adaptive motor behavior. In hyperkinesias, such as tics, disinhibition within the cortico-striato-thalamo-cortical loops is thought to underlie the presence of involuntary movements. Paradoxically, tics are also subject to voluntary inhibitory control. This puzzling clinical observation questions the traditional definition of tics as purely involuntary motor behaviors. Importantly, it suggests novel insights into tic pathophysiology. In this review, we first define voluntary inhibitory tic control and compare it with other notions of tic control from the literature. We then examine the association between voluntary inhibitory tic control with premonitory urges and review evidence linking voluntary tic inhibition to other forms of executive control of action. We discuss the somatotopic selectivity and the neural correlates of voluntary inhibitory tic control. Finally, we provide a scientific framework with regard to the clinical relevance of the study of voluntary inhibitory tic control within the context of the neurodevelopmental disorder of Tourette syndrome. We identify current knowledge gaps that deserve attention in future research. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

Human movement stochastic variability leads to diagnostic biomarkers In Autism Spectrum Disorders (ASD)

NASA Astrophysics Data System (ADS)

Wu, Di; Torres, Elizabeth B.; Jose, Jorge V.

2015-03-01

ASD is a spectrum of neurodevelopmental disorders. The high heterogeneity of the symptoms associated with the disorder impedes efficient diagnoses based on human observations. Recent advances with high-resolution MEM wearable sensors enable accurate movement measurements that may escape the naked eye. It calls for objective metrics to extract physiological relevant information from the rapidly accumulating data. In this talk we'll discuss the statistical analysis of movement data continuously collected with high-resolution sensors at 240Hz. We calculated statistical properties of speed fluctuations within the millisecond time range that closely correlate with the subjects' cognitive abilities. We computed the periodicity and synchronicity of the speed fluctuations' from their power spectrum and ensemble averaged two-point cross-correlation function. We built a two-parameter phase space from the temporal statistical analyses of the nearest neighbor fluctuations that provided a quantitative biomarker for ASD and adult normal subjects and further classified ASD severity. We also found age related developmental statistical signatures and potential ASD parental links in our movement dynamical studies. Our results may have direct clinical applications.

[Scenes in movement. Movement disorders on film].

PubMed

Olivares Romero, J

2010-03-01

There are publications in which various neurological diseases are analysed on film. However, no references have been found on movement disorders in this medium. A total of 104 documents were collected and reviewed using the internet movie data base (IMDb). The majority were associated with dystonia, Parkinson's and tics, were American commercial productions, and the most common genre was drama. The cinema usually depicts old men with developed Parkinson's disease. However, motor complications only appear in 19% and non-motor symptoms in 14%. The image of dystonia is generally that of a young man, with disabling dystonia secondary to childhood cerebral palsy. Tics appear associated with Tourette's syndrome, with the excessive use of obscene expressions and with very few references to other important aspects of this syndrome, such as mood and behavioural changes. The majority of tremors portrayed on film are associated with Parkinsonism and are not pathological. Myoclonus appears anecdotically and is normally symptomatic. Parkinson's disease is the type of movement disorder that the cinema portrays with greater neurological honesty and in a more dignified manner.

25 years of Eye Movement Desensitization and Reprocessing (EMDR): The EMDR therapy protocol, hypotheses of its mechanism of action and a systematic review of its efficacy in the treatment of post-traumatic stress disorder.

PubMed

Novo Navarro, Patricia; Landin-Romero, Ramón; Guardiola-Wanden-Berghe, Rocio; Moreno-Alcázar, Ana; Valiente-Gómez, Alicia; Lupo, Walter; García, Francisca; Fernández, Isabel; Pérez, Víctor; Amann, Benedikt L

Eye movement desensitization and reprocessing (EMDR) is a relatively new psychotherapy that has gradually gained popularity for the treatment of post-traumatic stress disorder. In the present work, the standardised EMDR protocol is introduced, along with current hypotheses of its mechanism of action, as well as a critical review of the available literature on its clinical effectiveness in adult post-traumatic stress disorder. A systematic review of the published literature was performed using PubMed and PsycINFO databases with the keywords «eye movement desensitization and reprocessing» and «post-traumatic stress disorder» and its abbreviations «EMDR» and «PTSD». Fifteen randomised controlled trials of good methodological quality were selected. These studies compared EMDR with unspecific interventions, waiting lists, or specific therapies. Overall, the results of these studies suggest that EMDR is a useful, evidence-based tool for the treatment of post-traumatic stress disorder, in line with recent recommendations from different international health organisations. Copyright © 2016 SEP y SEPB. Publicado por Elsevier España, S.L.U. All rights reserved.

Strabismus

MedlinePlus

... do not aim in the same direction Uncoordinated eye movements (eyes do not move together) Loss of vision ... Stahl ED, Ariss MM, Lindquist TP. Disorders of eye movement and alignment. In: Kliegman RM, Stanton BF, St. ...

Tardive Dyskinesia, Oral Parafunction, and Implant-Supported Rehabilitation.

PubMed

Lumetti, S; Ghiacci, G; Macaluso, G M; Amore, M; Galli, C; Calciolari, E; Manfredi, E

2016-01-01

Oral movement disorders may lead to prosthesis and implant failure due to excessive loading. We report on an edentulous patient suffering from drug-induced tardive dyskinesia (TD) and oral parafunction (OP) rehabilitated with implant-supported screw-retained prostheses. The frequency and intensity of the movements were high, and no pharmacological intervention was possible. Moreover, the patient refused night-time splint therapy. A series of implant and prosthetic failures were experienced. Implant failures were all in the maxilla and stopped when a rigid titanium structure was placed to connect implants. Ad hoc designed studies are desirable to elucidate the mutual influence between oral movement disorders and implant-supported rehabilitation.

Tardive Dyskinesia, Oral Parafunction, and Implant-Supported Rehabilitation

PubMed Central

Amore, M.

2016-01-01

Oral movement disorders may lead to prosthesis and implant failure due to excessive loading. We report on an edentulous patient suffering from drug-induced tardive dyskinesia (TD) and oral parafunction (OP) rehabilitated with implant-supported screw-retained prostheses. The frequency and intensity of the movements were high, and no pharmacological intervention was possible. Moreover, the patient refused night-time splint therapy. A series of implant and prosthetic failures were experienced. Implant failures were all in the maxilla and stopped when a rigid titanium structure was placed to connect implants. Ad hoc designed studies are desirable to elucidate the mutual influence between oral movement disorders and implant-supported rehabilitation. PMID:28050290

Disorders of Upper Limb Movements in Ataxia-Telangiectasia

PubMed Central

Shaikh, Aasef G.; Zee, David S.; Mandir, Allen S.; Lederman, Howard M.; Crawford, Thomas O.

2013-01-01

Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task), while arms were outstretched (postural task), and at rest. Almost all ataxia-telangiectasia subjects (79/80) had abnormal involuntary movements, such as rhythmic oscillations (tremor), slow drifts (dystonia or athetosis), and isolated rapid movements (dystonic jerks or myoclonus). All patients with involuntary movements had both kinetic and postural tremor, while 48 (61%) also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia. PMID:23826191

Disorders of Upper Limb Movements in Ataxia-Telangiectasia.

PubMed

Shaikh, Aasef G; Zee, David S; Mandir, Allen S; Lederman, Howard M; Crawford, Thomas O

2013-01-01

Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia. We quantitatively assessed the nature of upper-limb movement disorders in ataxia-telangiectasia. We used a three-axis accelerometer to assess the natural history and severity of abnormal upper-limb movements in 80 ataxia-telangiectasia and 19 healthy subjects. Recordings were made during goal-directed movements of upper limb (kinetic task), while arms were outstretched (postural task), and at rest. Almost all ataxia-telangiectasia subjects (79/80) had abnormal involuntary movements, such as rhythmic oscillations (tremor), slow drifts (dystonia or athetosis), and isolated rapid movements (dystonic jerks or myoclonus). All patients with involuntary movements had both kinetic and postural tremor, while 48 (61%) also had resting tremor. The tremor was present in transient episodes lasting several seconds during two-minute recording sessions of all three conditions. Percent time during which episodic tremor was present was greater for postural and kinetic tasks compared to rest. Resting tremor had higher frequency but smaller amplitude than postural and kinetic tremor. Rapid non-rhythmic movements were minimal during rest, but were triggered during sustained arm postures and goal directed arm movements suggesting they are best considered a form of dystonic jerks or action myoclonus. Advancing age did not correlate with the severity of involuntary limb movements. Abnormal upper-limb movements in ataxia-telangiectasia feature classic cerebellar impairment, but also suggest involvement of the network between the cerebellum and basal ganglia.

Disruption of self-organized actions in monkeys with progressive MPTP-induced parkinsonism. I. Effects of task complexity.

PubMed

Pessiglione, Mathias; Guehl, Dominique; Hirsch, Etienne C; Féger, Jean; Tremblay, Léon

2004-01-01

Parkinson's disease (PD) is characterized by motor symptoms, usually accompanied by cognitive deficits. The question addressed in this study is whether complexity of routine actions can exacerbate parkinsonian disorders that are often considered to be motor symptoms. To examine this question, we trained four vervet monkeys (Cercopithecus aethiops) to perform three multiple-choice retrieval tasks. In order of ascending complexity, rewards were freely available (task 1), covered with transparent sliding plaques (task 2), and covered with opaque sliding plaques cued by symbols (task 3). Thus, from task 1 to task 2 we added a motor difficulty--the recall of context-adapted movement; and from task 2 to task 3 we added a cognitive difficulty: the recall of symbol-reward associations. The more complex the task, the longer it took to learn, but after extensive training the performance was stable in all tasks, with similar retrieval durations. The monkeys then received systemic 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) injections (0.3-0.4 mg/kg) every 4-7 days, until the first motor symptoms appeared. In the course of MPTP intoxication, the behavioural performance declined while the motor symptoms were absent or mild--the retrieval duration increased, and non-initiated choices and hesitations between choices became frequent. Interestingly, this decline was in proportion to task complexity, and was particularly pronounced with the cognitive difficulty. Furthermore, freezing appeared only with the cognitive difficulty. We therefore suggest that everyday cognitive difficulties may exacerbate hypokinesia (lack of initiation, abnormal slowness) and executive disorders (hesitations, freezing) in the early stages of human PD.

[Stereotypic movements].

PubMed

Fernández-Alvarez, E

2003-02-01

Stereotypic movements are repetitive patterns of movement with certain peculiar features that make them especially interesting. Their physiopathology and their relationship with the neurobehavioural disorders they are frequently associated with are unknown. In this paper our aim is to offer a simple analysis of their dominant characteristics, their differentiation from other processes and a hypothesis of the properties of stereotypic movements, which could all set the foundations for research work into their physiopathology.

How doing a dynamical analysis of gait movement may provide information about Autism

NASA Astrophysics Data System (ADS)

Wu, D.; Torres, E.; Nguyen, J.; Mistry, S.; Whyatt, C.; Kalampratsidou, V.; Kolevzon, A.; Jose, J.

Individuals with Autism Spectrum Disorder (ASD) are known to have deficits in language and social skills. They also have deficits on how they move. Why individuals get ASD? It is not generally known. There is, however, one particular group of children with a SHANK3 gene deficiency (Phelan-McDermid Syndrome (PMDS)) that present symptoms similar to ASD. We have been searching for universal mechanism in ASD going beyond the usual heterogeneous ASD symptoms. We studied motions in gaits for both PMDS patients and idiopathic ASD. We have examined their motions continuously at milliseconds time scale, away from naked eye detection. Gait is a complex process, requiring a complex integration and coordination of different joints' motions. Significant information about the development and/or deficits in the sensory system is hidden in our gaits. We discovered that the speed smoothness in feet motion during gaits is a critical feature that provides a significant distinction between subjects with ASD and typical controls. The differences in appearance of the speed fluctuations suggested a different coordination mechanism in subjects with disorders. Our work provides a very important feature in gait motion that has significant physiological information.

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins.

PubMed

Schmiesing, Jessica; Schlüter, Hartmut; Ullrich, Kurt; Braulke, Thomas; Mühlhausen, Chris

2014-01-01

Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the development of encephalopathic crises which lead to an irreversible disabling dystonic movement disorder. The clinical and biochemical manifestations of GA1 vary considerably and lack correlations to the genotype. Using an affinity chromatography approach we report here for the first time on the identification of mitochondrial proteins interacting directly with GCDH. Among others, dihydrolipoamide S-succinyltransferase (DLST) involved in the formation of glutaryl-CoA, and the β-subunit of the electron transfer flavoprotein (ETFB) serving as electron acceptor, were identified as GCDH binding partners. We have adapted the yellow fluorescent protein-based fragment complementation assay and visualized the oligomerization of GCDH as well as its direct interaction with DLST and ETFB in mitochondria of living cells. These data suggest that GCDH is a constituent of multimeric mitochondrial dehydrogenase complexes, and the characterization of their interrelated functions may provide new insights into the regulation of lysine oxidation and the pathophysiology of GA1.

Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins

PubMed Central

Schmiesing, Jessica; Schlüter, Hartmut; Ullrich, Kurt; Braulke, Thomas; Mühlhausen, Chris

2014-01-01

Glutaric aciduria type 1 (GA1) is an inherited neurometabolic disorder caused by mutations in the GCDH gene encoding glutaryl-CoA dehydrogenase (GCDH), which forms homo- and heteromeric complexes in the mitochondrial matrix. GA1 patients are prone to the development of encephalopathic crises which lead to an irreversible disabling dystonic movement disorder. The clinical and biochemical manifestations of GA1 vary considerably and lack correlations to the genotype. Using an affinity chromatography approach we report here for the first time on the identification of mitochondrial proteins interacting directly with GCDH. Among others, dihydrolipoamide S-succinyltransferase (DLST) involved in the formation of glutaryl-CoA, and the β-subunit of the electron transfer flavoprotein (ETFB) serving as electron acceptor, were identified as GCDH binding partners. We have adapted the yellow fluorescent protein-based fragment complementation assay and visualized the oligomerization of GCDH as well as its direct interaction with DLST and ETFB in mitochondria of living cells. These data suggest that GCDH is a constituent of multimeric mitochondrial dehydrogenase complexes, and the characterization of their interrelated functions may provide new insights into the regulation of lysine oxidation and the pathophysiology of GA1. PMID:24498361

Masturbation in infancy and early childhood presenting as a movement disorder: 12 cases and a review of the literature.

PubMed

Yang, Michele L; Fullwood, Erika; Goldstein, Joshua; Mink, Jonathan W

2005-12-01

Infantile masturbation (gratification behavior) is not commonly identified as a cause of recurrent paroxysmal movements. Extensive and fruitless investigations may be pursued before establishing this diagnosis. Sparse literature is available regarding masturbatory behavior as a whole, but literature available as case reports describes common features. The purpose of this case series is to describe consistent features in young children with posturing accompanying masturbation. Twelve patients presenting to a pediatric movement disorders clinic with a suspected movement disorder were determined to have postures and movements associated with masturbation. We reviewed the clinical history, examination, and home videotapes of these patients. Our patients had several features in common: (1) onset after the age of 3 months and before 3 years; (2) stereotyped episodes of variable duration; (3) vocalizations with quiet grunting; (4) facial flushing with diaphoresis; (5) pressure on the perineum with characteristic posturing of the lower extremities; (6) no alteration of consciousness; (7) cessation with distraction; (8) normal examination; and (9) normal laboratory studies. The identification of these common features by primary care providers should assist in making this diagnosis and eliminate the need for extensive, unnecessary testing. Direct observation of the events is crucial, and the video camera is a useful tool that may help in the identification of masturbatory behavior.

Inhibition during response preparation is sensitive to response complexity

PubMed Central

Saks, Dylan; Hoang, Timothy; Ivry, Richard B.

2015-01-01

Motor system excitability is transiently suppressed during the preparation of movement. This preparatory inhibition is hypothesized to facilitate response selection and initiation. Given that demands on selection and initiation processes increase with movement complexity, we hypothesized that complexity would influence preparatory inhibition. To test this hypothesis, we probed corticospinal excitability during a delayed-response task in which participants were cued to prepare right- or left-hand movements of varying complexity. Single-pulse transcranial magnetic stimulation was applied over right primary motor cortex to elicit motor evoked potentials (MEPs) from the first dorsal interosseous (FDI) of the left hand. MEP suppression was greater during the preparation of responses involving coordination of the FDI and adductor digiti minimi relative to easier responses involving only the FDI, independent of which hand was cued to respond. In contrast, this increased inhibition was absent when the complex responses required sequential movements of the two muscles. Moreover, complexity did not influence the level of inhibition when the response hand was fixed for the trial block, regardless of whether the complex responses were performed simultaneously or sequentially. These results suggest that preparatory inhibition contributes to response selection, possibly by suppressing extraneous movements when responses involve the simultaneous coordination of multiple effectors. PMID:25717168

Oscillatory activity in the basal ganglia and deep brain stimulation.

PubMed

Guridi, Jorge; Alegre, Manuel

2017-01-01

Over the past 10 years, research into the neurophysiology of the basal ganglia has provided new insights into the pathophysiology of movement disorders. The presence of pathological oscillations at specific frequencies has been linked to different signs and symptoms in PD and dystonia, suggesting a new model to explain basal ganglia dysfunction. These advances occurred in parallel with improvements in imaging and neurosurgical techniques, both of which having facilitated the more widespread use of DBS to modulate dysfunctional circuits. High-frequency stimulation is thought to disrupt pathological activity in the motor cortex/basal ganglia network; however, it is not easy to explain all of its effects based only on changes in network oscillations. In this viewpoint, we suggest that a return to classic anatomical concepts might help to understand some apparently paradoxical findings. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

Hemichorea-hemiballismus as an initial manifestation in a Moroccan patient with acquired immunodeficiency syndrome and toxoplasma infection: a case report and review of the literature

PubMed Central

Rabhi, Samira; Amrani, Kawthar; Maaroufi, Mustapha; Khammar, Zineb; Khibri, Hajar; Ouazzani, Maha; Berrady, Rhizlane; Tizniti, Siham; Messouak, Ouafae; Belahsen, Faouzy; Bono, Wafaa

2011-01-01

Neurologic signs and symptoms may represent the initial presentation of AIDS in 10-30% of patients. Movement disorders may be the result of direct central nervous system infection by human immunodeficiency virus (HIV) or the result of opportunistic infections. We report the case of a 59 years old woman who had hemichorea-hemiballismus subsequently found to be secondary to a cerebral toxoplasmosis infection revealing HIV infection. Movement disorders, headache and nausea were resolved after two weeks of antitoxoplasmic treatment. Brain MRI control showed a marked resolution of cerebral lesion. Occurrence of hemichorea-ballismus in patient without familial history of movement disorders suggests a diagnosis of AIDS and in particular the diagnosis of secondary cerebral toxoplasmosis. Early recognition is important since it is a treatable entity. PMID:22187591

Assessment of association of D3 dopamine receptor MscI polymorphism with schizophrenia: Analysis of symptom ratings, family history, age at onset, and movement disorders

DOE Office of Scientific and Technical Information (OSTI.GOV)

Gaitonde, E.J.; Mollon, J.D.; McKenna, P.J.

Several studies have reported an association between schizophrenia and homozygosity for the MscI restriction site in exon 1 of the D3 dopamine receptor gene, but other studies have failed to find this association. Recent reports have suggested that the association is most salient in male patients with a family history of schizophrenia. We examined this restriction site in a group of schizophrenic patients (n = 84) and in normal controls (n = 77). Patients were subdivided according to demographic and clinical features, particular attention being paid to movement disorders. No significant difference in allelic or genotypic distribution was seen betweenmore » the two groups. No association was seen between homozygosity and a positive family history, age at onset of illness, clinical subtype, negative symptom score, or movement disorder scores. 33 refs., 2 tabs.« less

Temporomandibular pain caused by sleep disorders: a review and case report.

PubMed

Babiec, Daniel F

2017-01-01

Patients who present to the general dentist's office with complaints of temporomandibular joint pain may exhibit signs and symptoms such as muscle soreness, bruxism, joint soreness, limited range of movement, altered movement, and facial pain as well as tooth chipping or tooth movement. After examinations, radiographic evaluations, and a review of medical history, dentists may have a bias toward regarding these symptoms as oral or dental in origin. After a diagnosis of a temporomandibular disorder (TMD), bruxism, or muscular spasms due to occlusal instabilities is established, the treatment protocol often includes an oral appliance (such as a nightguard), exercises, and pharmacologic agents. However, patients with sleep-disordered breathing (SDB) can exhibit the same signs and symptoms as patients with TMDs, and these symptoms can be misinterpreted as being dental in origin. Dental treatment can actually worsen these medical conditions, putting patients at further risk for untreated and aggravated SDB along with its medical sequelae.

Office-based endoscopic botulinum toxin injection in laryngeal movement disorders.

PubMed

Kaderbay, A; Righini, C A; Castellanos, P F; Atallah, I

2018-06-01

Botulinum toxin injection is widely used for the treatment of laryngeal movement disorders. Electromyography-guided percutaneous injection is the technique most commonly used to perform intralaryngeal botulinum toxin injection. We describe an endoscopic approach for intralaryngeal botulinum toxin injection under local anaesthesia without using electromyography. A flexible video-endoscope with an operating channel is used. After local anaesthesia of the larynx by instillation of lidocaine, a flexible needle is inserted into the operating channel in order to inject the desired dose of botulinum toxin into the vocal and/or vestibular folds. Endoscopic botulinum toxin injection under local anaesthesia is a reliable technique for the treatment of laryngeal movement disorders. It can be performed by any laryngologist without the need for electromyography. It is easy to perform for the operator and comfortable for the patient. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

[Neuropsychiatry Of Movement Disorders].

PubMed

Orjuela-Rojas, Juan Manuel; Barrios Vincos, Gustavo Adolfo; Martínez Gallego, Melisa Alejandra

2017-10-01

Movement disorders can be defined as neurological syndromes presenting with excessive or diminished automatic or voluntary movements not related to weakness or spasticity. Both Parkinson's disease (PD) and Huntington's disease (HD) are well-known examples of these syndromes. The high prevalence of comorbid psychiatric symptoms like depression, anxiety, obsessive-compulsive symptoms, hallucinations, delusions, impulsivity, sleep disorders, apathy and cognitive impairment mean that these conditions must be regarded as neuropsychiatric diseases. In this article, we review neuroanatomical (structural and functional), psychopathological and neuropsychological aspects of PD and HD. The role of fronto-subcortical loops in non-motor functions is particularly emphasised in order to understand the clinical spectrum of both diseases, together with the influence of genetic, psychological and psychosocial aspects. A brief description of the main psychopharmacological approaches for both diseases is also included. Copyright © 2017 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Marshall M. Parks Memorial Lecture: Ocular Motor Misbehavior in Children: Where Neuro-Ophthalmology Meets Strabismus.

PubMed

Brodsky, Michael C

2017-06-01

Clinical diagnosis has been supplemented by neuroimaging advances, genetic discoveries, and molecular research to generate new neurobiological discoveries pertaining to early maldevelopment of ocular motor control systems. In this focused review, I examine recent paradigm shifts that have transformed our understanding of pediatric ocular motor disease at the prenuclear and infranuclear levels. The pathogenesis of complex ocular motor disorders, such as paradoxical pupillary constriction to darkness, benign tonic upgaze of infancy, congenital fibrosis syndrome, and the constellation of unique eye movements that accompany Joubert syndrome, are elucidated. Copyright © 2017 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

Fundamental movement skills in children diagnosed with autism spectrum disorders and attention deficit hyperactivity disorder.

PubMed

Pan, Chien-Yu; Tsai, Chia-Liang; Chu, Chia-Hua

2009-12-01

The purpose of this study was to compare the movement skills of children with autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), and those without disabilities. Ninety-one children (ASD, n = 28; ADHD, n = 29; control, n = 34), ages 6-10 years, were of average IQ participated. After controlling for age, both ASD and ADHD groups scored significantly lower than controls (p's < .05) on overall gross motor development as well as locomotor and object control subtests, and the ASD group performed more poorly than the ADHD group (p's < .01) on both subtests. Of the children with ASD and ADHD, only 16% had clinical levels of impairment. Potential underlying factors are discussed, with suggestions for future research.

Deep-Brain Stimulation for Basal Ganglia Disorders.

PubMed

Wichmann, Thomas; Delong, Mahlon R

2011-07-01

The realization that medications used to treat movement disorders and psychiatric conditions of basal ganglia origin have significant shortcomings, as well as advances in the understanding of the functional organization of the brain, has led to a renaissance in functional neurosurgery, and particularly the use of deep brain stimulation (DBS). Movement disorders are now routinely being treated with DBS of 'motor' portions of the basal ganglia output nuclei, specifically the subthalamic nucleus and the internal pallidal segment. These procedures are highly effective and generally safe. Use of DBS is also being explored in the treatment of neuropsychiatric disorders, with targeting of the 'limbic' basal ganglia-thalamocortical circuitry. The results of these procedures are also encouraging, but many unanswered questions remain in this emerging field. This review summarizes the scientific rationale and practical aspects of using DBS for neurologic and neuropsychiatric disorders.

Growth associated protein (GAP-43): cloning and the development of a sensitive ELISA for neurological disorders.

PubMed

Gnanapavan, Sharmilee; Yousaf, Nasim; Heywood, Wendy; Grant, Donna; Mills, Kevin; Chernajovsky, Yuti; Keir, Geoff; Giovannoni, Gavin

2014-11-15

GAP-43 has been studied in the rodent and mammalian brain and shown to be present specifically in areas undergoing axonal elongation and synapse formation. GAP-43 was cloned using the baculovirus expression system and purified. A sandwich ELISA was developed using the recombinant GAP-43 as standard and validated. CSF GAP-43 levels were analysed in benign intracranial hypertension, movement disorders, multiple sclerosis, neuropathy, CNS infections, motor neuron disease, and headache (neurological controls). GAP-43 levels were low in all disorders analysed (in particular motor neuron disease; p=0.001, and movement disorders and multiple sclerosis; p<0.0001) compared to controls, aside from CNS infections. GAP-43 is preferentially reduced in the CSF of neurological disorders associated with neurodegeneration. Copyright © 2014. Published by Elsevier B.V.

Eye muscle repair

MedlinePlus

... and physical exam before the procedure Orthoptic measurements (eye movement measurements) Always tell your child's health care provider: ... D, Plummer LS, Stass-Isern M. Disorders of eye movement and alignment. In: Kliegman RM, Stanton BF, St. ...

Narcolepsy, REM sleep behavior disorder, and supranuclear gaze palsy associated with Ma1 and Ma2 antibodies and tonsillar carcinoma.

PubMed

Adams, Chris; McKeon, Andrew; Silber, Michael H; Kumar, Rajeev

2011-04-01

To describe a patient with diencephalic and mesencephalic presentation of a Ma1 and Ma2 antibody-associated paraneoplastic neurological disorder. Case report. The Colorado Neurological Institute Movement Disorders Center in Englewood, Colorado, and the Mayo Clinic in Rochester, Minnesota. A 55-year-old man with a paraneoplastic neurological disorder characterized by rapid eye movement sleep behavior disorder, narcolepsy, and a progressive supranuclear palsy-like syndrome in the setting of tonsillar carcinoma. Immunotherapy for paraneoplastic neurological disorder, surgery and radiotherapy for cancer, and symptomatic treatment for parkinsonism and sleep disorders. Polysomnography, multiple sleep latency test, and neurological examination. The cancer was detected at a limited stage and treatable. After oncological therapy and immunotherapy, symptoms stabilized. Treatment with modafinil improved daytime somnolence. Rapid onset and progression of multifocal deficits may be a clue to paraneoplastic etiology. Early treatment of a limited stage cancer (with or without immunotherapy) may possibly slow progression of neurological symptoms. Symptomatic treatment may be beneficial.

Burke-Fahn-Marsden dystonia severity, Gross Motor, Manual Ability, and Communication Function Classification scales in childhood hyperkinetic movement disorders including cerebral palsy: a 'Rosetta Stone' study.

PubMed

Elze, Markus C; Gimeno, Hortensia; Tustin, Kylee; Baker, Lesley; Lumsden, Daniel E; Hutton, Jane L; Lin, Jean-Pierre S-M

2016-02-01

Hyperkinetic movement disorders (HMDs) can be assessed using impairment-based scales or functional classifications. The Burke-Fahn-Marsden Dystonia Rating Scale-movement (BFM-M) evaluates dystonia impairment, but may not reflect functional ability. The Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) are widely used in the literature on cerebral palsy to classify functional ability, but not in childhood movement disorders. We explore the concordance of these three functional scales in a large sample of paediatric HMDs and the impact of dystonia severity on these scales. Children with HMDs (n=161; median age 10y 3mo, range 2y 6mo-21y) were assessed using the BFM-M, GMFCS, MACS, and CFCS from 2007 to 2013. This cross-sectional study contrasts the information provided by these scales. All four scales were strongly associated (all Spearman's rank correlation coefficient rs >0.72, p<0.001), with worse dystonia severity implying worse function. Secondary dystonias had worse dystonia and less function than primary dystonias (p<0.001). A longer proportion of life lived with dystonia is associated with more severe dystonia (rs =0.42, p<0.001). The BFM-M is strongly linked with the GMFCS, MACS, and CFCS, irrespective of aetiology. Each scale offers interrelated but complementary information and is applicable to all aetiologies. Movement disorders including cerebral palsy can be effectively evaluated using these scales. © 2015 Mac Keith Press.

Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation.

PubMed

Dauvilliers, Yves A; Laberge, Luc

2012-12-01

Myotonic dystrophy type 1 (DM1), or Steinert's disease, is the most common adult-onset form of muscular dystrophy. DM1 also constitutes the neuromuscular condition with the most significant sleep disorders including excessive daytime sleepiness (EDS), central and obstructive sleep apneas, restless legs syndrome (RLS), periodic leg movements in wake (PLMW) and periodic leg movements in sleep (PLMS) as well as nocturnal and diurnal rapid eye movement (REM) sleep dysregulation. EDS is the most frequent non-muscular complaint in DM1, being present in about 70-80% of patients. Different phenotypes of sleep-related problems may mimic several sleep disorders, including idiopathic hypersomnia, narcolepsy without cataplexy, sleep apnea syndrome, and periodic leg movement disorder. Subjective and objective daytime sleepiness may be associated with the degree of muscular impairment. However, available evidence suggests that DM1-related EDS is primarily caused by a central dysfunction of sleep regulation rather than by sleep fragmentation, sleep-related respiratory events or periodic leg movements. EDS also tends to persist despite successful treatment of sleep-disordered breathing in DM1 patients. As EDS clearly impacts on physical and social functioning of DM1 patients, studies are needed to identify the best appropriate tools to identify hypersomnia, and clarify the indications for polysomnography (PSG) and multiple sleep latency test (MSLT) in DM1. In addition, further structured trials of assisted nocturnal ventilation and randomized trials of central nervous system (CNS) stimulant drugs in large samples of DM1 patients are required to optimally treat patients affected by this progressive, incurable condition. Copyright © 2012 Elsevier Ltd. All rights reserved.

Effects of cerebellar neuromodulation in movement disorders: A systematic review.

PubMed

França, Carina; de Andrade, Daniel Ciampi; Teixeira, Manoel Jacobsen; Galhardoni, Ricardo; Silva, Valquiria; Barbosa, Egberto Reis; Cury, Rubens Gisbert

The cerebellum is involved in the pathophysiology of many movement disorders and its importance in the field of neuromodulation is growing. To review the current evidence for cerebellar modulation in movement disorders and its safety profile. Eligible studies were identified after a systematic literature review of the effects of cerebellar modulation in cerebellar ataxia, Parkinson's disease (PD), essential tremor (ET), dystonia and progressive supranuclear palsy (PSP). Neuromodulation techniques included transcranial magnetic stimulation (TMS), transcranial direct current stimulation (tDCS) and deep brain stimulation (DBS). The changes in motor scores and the incidence of adverse events after the stimulation were reviewed. Thirty-four studies were included in the systematic review, comprising 431 patients. The evaluation after stimulation ranged from immediately after to 12 months after. Neuromodulation techniques improved cerebellar ataxia due to vascular or degenerative etiologies (TMS, tDCS and DBS), dyskinesias in PD patients (TMS), gross upper limb movement in PD patients (tDCS), tremor in ET (TMS and tDCS), cervical dystonia (TMS and tDCS) and dysarthria in PSP patients (TMS). All the neuromodulation techniques were safe, since only three studies reported the existence of side effects (slight headache after TMS, local skin erythema after tDCS and infectious complication after DBS). Eleven studies did not mention if adverse events occurred. Cerebellar modulation can improve specific symptoms in some movement disorders and is a safe and well-tolerated procedure. Further studies are needed to lay the groundwork for new researches in this promising target. Copyright © 2017 Elsevier Inc. All rights reserved.

Sensorimotor integration: basic concepts, abnormalities related to movement disorders and sensorimotor training-induced cortical reorganization.

PubMed

Machado, Sergio; Cunha, Marlo; Velasques, Bruna; Minc, Daniel; Teixeira, Silmar; Domingues, Clayton A; Silva, Julio G; Bastos, Victor H; Budde, Henning; Cagy, Mauricio; Basile, Luis; Piedade, Roberto; Ribeiro, Pedro

2010-10-01

Sensorimotor integration is defined as the capability of the central nervous system to integrate different sources of stimuli, and parallelly, to transform such inputs in motor actions. To review the basic principles of sensorimotor integration, such as, its neural bases and its elementary mechanisms involved in specific goal-directed tasks performed by healthy subjects, and the abnormalities reported in the most common movement disorders, such as, Parkinson' disease, dystonia and stroke, like the cortical reorganization-related mechanisms. Whether these disorders are associated with an abnormal peripheral sensory input or defective central processing is still unclear, but most of the data support a central mechanism. We found that the sensorimotor integration process plays a potential role in elementary mechanisms involved in specific goal-directed tasks performed by healthy subjects and in occurrence of abnormalities in most common movement disorders and, moreover, play a potential role on the acquisition of abilities that have as critical factor the coupling of different sensory data which will constitute the basis of elaboration of motor outputs consciously goal-directed.

Nonmotor symptoms in patients with Parkinson disease

PubMed Central

Zhang, Tie-mei; Yu, Shu-yang; Guo, Peng; Du, Yang; Hu, Yang; Piao, Ying-shan; Zuo, Li-jun; Lian, Teng-hong; Wang, Rui-dan; Yu, Qiu-jin; Jin, Zhao; Zhang, Wei

2016-01-01

Abstract Parkinson disease (PD) is usually accompanied by numerous nonmotor symptoms (NMS), such as neuropsychiatric symptoms, sleep disorders, autonomic dysfunctions, and sensory disturbances. However, it is not clear that the factors influencing the occurrence of NMS and its sequence with motor symptoms (MS). We conducted comprehensive assessments of NMS by using 13 scales in 1119 PD patients. A total of 70.8% PD patients present NMS. Olfactory dysfunction tends to occur in PD patients with older age, more severe depression, sleep problems, and autonomic dysfunctions. Older patients are more likely to have olfactory dysfunction before MS than younger patients. Rapid eye movement behavior disorder is more prone to happen in patients with older age, older onset age, more severe depression, sleep problems, and autonomic dysfunctions. Patients with rapid eye movement behavior disorder before MS are older in onset age than after group. Olfactory dysfunction, constipation, rapid eye movement behavior disorder, and depression, as early warning NMSs of PD, connected to each other. There is a clinical heterogeneity that older patients are more likely to have NMS before MS, while younger patients are opposite. PMID:27977578

Development of motor speed and associated movements from 5 to 18 years.

PubMed

Gasser, Theo; Rousson, Valentin; Caflisch, Jon; Jenni, Oskar G

2010-03-01

To study the development of motor speed and associated movements in participants aged 5 to 18 years for age, sex, and laterality. Ten motor tasks of the Zurich Neuromotor Assessment (repetitive and alternating movements of hands and feet, repetitive and sequential finger movements, the pegboard, static and dynamic balance, diadochokinesis) were administered to 593 right-handed participants (286 males, 307 females). A strong improvement with age was observed in motor speed from age 5 to 10, followed by a levelling-off between 12 and 18 years. Simple tasks and the pegboard matured early and complex tasks later. Simple tasks showed no associated movements beyond early childhood; in complex tasks associated movements persisted until early adulthood. The two sexes differed only marginally in speed, but markedly in associated movements. A significant laterality (p<0.001) in speed was found for all tasks except for static balance; the pegboard was most lateralized, and sequential finger movements least. Associated movements were lateralized only for a few complex tasks. We also noted a substantial interindividual variability. Motor speed and associated movements improve strongly in childhood, weakly in adolescence, and are both of developmental relevance. Because they correlate weakly, they provide complementary information.

Intervention for Young Children Displaying Coordination Disorders

ERIC Educational Resources Information Center

Chambers, Mary E.; Sugden, David A.

2016-01-01

The years from 3 to 6 are a time when children develop fundamental movement skills that are the building blocks for the functional movements they use throughout their lives. By 6 years of age, a typically developing child will have in place a full range of movement skills, including, running, jumping, hopping, skipping, climbing, throwing,…

Dystonia: Emotional and Mental Health

MedlinePlus

... Support Frequently Asked Questions Faces of Dystonia Emotional & Mental Health Although dystonia is a movement disorder that impacts ... emotion as well as muscle movement. For years, mental health professionals have recognized that coping with a chronic ...

A unique retinal epitheliopathy is associated with amyotrophic lateral sclerosis/Parkinsonism-Dementia complex of Guam.

PubMed

Steele, John C; Wresch, Robert; Hanlon, Samuel D; Keystone, Jay; Ben-Shlomo, Yoav

2015-08-01

The aim of this work was to examine whether a linear retinal pigment epitheliopathy is associated with the amyotrophic lateral sclerosis/parkinsonism-dementia complex of Guam. A total of 918 Guamanian Chamorros, with and without amyotrophic lateral sclerosis/parkinsonism-dementia complex, were examined cross-sectionally for linear retinal pigment epitheliopathy (LRPE). Overall, 239 Guamanians, who were neurologically asymptomatic, were followed for up to 20 years to determine the risk of developing amyotrophic lateral sclerosis/parkinsonism-dementia complex. The epitheliopathy was present in 59.7% (117 of 196) patients with amyotrophic lateral sclerosis/parkinsonism-dementia complex, but in only 24.7% (178 of 722) of subjects who were neurologically asymptomatic (age- and sex-adjusted risk difference: 35.0%; 95% confidence interval [CI]: 27.5-42.6; p < 0.0001). Prospectively, 15 of 50 cases with epitheliopathy developed amyotrophic lateral sclerosis/parkinsonism-dementia complex, compared to 4 of 189 cases without epitheliopathy (age- and sex-adjusted hazard ratio: 13.1; 95% CI: 4.0-43.1; P < 0.0001). Amyotrophic lateral sclerosis/parkinsonism-dementia complex is associated with an LRPE and predicts future neurological disease. Identifying the cause of this retinopathy could provide an understanding about the pathogenesis of amyotrophic lateral sclerosis/parkinsonism-dementia complex and related diseases. © 2015 International Parkinson and Movement Disorder Society.

Long-Distance Wh-Movement and Long-Distance Wh-Movement Avoidance in L2 English: Evidence from French and Bulgarian Speakers

ERIC Educational Resources Information Center

Slavkov, Nikolay

2015-01-01

This article investigates spoken productions of complex questions with long-distance wh-movement in the L2 English of speakers whose first language is (Canadian) French or Bulgarian. Long-distance wh-movement is of interest as it can be argued that it poses difficulty in acquisition due to its syntactic complexity and related high processing load.…

Real-time animation software for customized training to use motor prosthetic systems.

PubMed

Davoodi, Rahman; Loeb, Gerald E

2012-03-01

Research on control of human movement and development of tools for restoration and rehabilitation of movement after spinal cord injury and amputation can benefit greatly from software tools for creating precisely timed animation sequences of human movement. Despite their ability to create sophisticated animation and high quality rendering, existing animation software are not adapted for application to neural prostheses and rehabilitation of human movement. We have developed a software tool known as MSMS (MusculoSkeletal Modeling Software) that can be used to develop models of human or prosthetic limbs and the objects with which they interact and to animate their movement using motion data from a variety of offline and online sources. The motion data can be read from a motion file containing synthesized motion data or recordings from a motion capture system. Alternatively, motion data can be streamed online from a real-time motion capture system, a physics-based simulation program, or any program that can produce real-time motion data. Further, animation sequences of daily life activities can be constructed using the intuitive user interface of Microsoft's PowerPoint software. The latter allows expert and nonexpert users alike to assemble primitive movements into a complex motion sequence with precise timing by simply arranging the order of the slides and editing their properties in PowerPoint. The resulting motion sequence can be played back in an open-loop manner for demonstration and training or in closed-loop virtual reality environments where the timing and speed of animation depends on user inputs. These versatile animation utilities can be used in any application that requires precisely timed animations but they are particularly suited for research and rehabilitation of movement disorders. MSMS's modeling and animation tools are routinely used in a number of research laboratories around the country to study the control of movement and to develop and test neural prostheses for patients with paralysis or amputations.

Coupling dynamics in speech gestures: amplitude and rate influences.

PubMed

van Lieshout, Pascal H H M

2017-08-01

Speech is a complex oral motor function that involves multiple articulators that need to be coordinated in space and time at relatively high movement speeds. How this is accomplished remains an important and largely unresolved empirical question. From a coordination dynamics perspective, coordination involves the assembly of coordinative units that are characterized by inherently stable coupling patterns that act as attractor states for task-specific actions. In the motor control literature, one particular model formulated by Haken et al. (Biol Cybern 51(5):347-356, 1985) or HKB has received considerable attention in the way it can account for changes in the nature and stability of specific coordination patterns between limbs or between limbs and external stimuli. In this model (and related versions), movement amplitude is considered a critical factor in the formation of these patterns. Several studies have demonstrated its role for bimanual coordination and similar types of tasks, but for speech motor control such studies are lacking. The current study describes a systematic approach to evaluate the impact of movement amplitude and movement duration on coordination stability in the production of bilabial and tongue body gestures for specific vowel-consonant-vowel strings. The vowel combinations that were used induced a natural contrast in movement amplitude at three speaking rate conditions (slow, habitual, fast). Data were collected on ten young adults using electromagnetic articulography, recording movement data from lips and tongue with high temporal and spatial precision. The results showed that with small movement amplitudes there is a decrease in coordination stability, independent from movement duration. These findings were found to be robust across all individuals and are interpreted as further evidence that principles of coupling dynamics operate in the oral motor control system similar to other motor systems and can be explained in terms of coupling mechanisms between neural oscillators (organized in networks) and effector systems. The relevance of these findings for understanding motor control issues in people with speech disorders is discussed as well.

Yeast Studies Lead to a New DNA-Based Model for Research on Development | Poster

Cancer.gov

A paper from Amar J. S. Klar, Ph.D., with the RNA Biology Laboratory in NCI’s Center for Cancer Research, has identified a model for DNA research that explains the congenital disorder of mirror hand movements in humans. A mirror movement is when an intentional movement on one side of the body is mirrored by an involuntary movement on the other.

Abnormal motor patterns in the framework of the equilibrium-point hypothesis: a cause for dystonic movements?

PubMed

Latash, M L; Gutman, S R

1994-01-01

Until now, the equilibrium-point hypothesis (lambda model) of motor control has assumed nonintersecting force-length characteristics of the tonic stretch reflex for individual muscles. Limited data from animal experiments suggest, however, that such intersections may occur. We have assumed the possibility of intersection of the characteristics of the tonic stretch reflex and performed a computer simulation of movement trajectories and electromyographic patterns. The simulation has demonstrated, in particular, that a transient change in the slope of the characteristic of an agonist muscle may lead to temporary movement reversals, hesitations, oscillations, and multiple electromyographic bursts that are typical of movements of patients with dystonia. The movement patterns of three patients with idiopathic dystonia during attempts at fast single-joint movements (in the elbow, wrist, and ankle) were recorded and compared with the results of the computer simulation. This approach considers that motor disorders in dystonia result from faulty control patterns that may not correlate with any morphological or neurophysiological changes. It provides a basis for the high variability of dystonic movements. The uniqueness of abnormal motor patterns in dystonia, that precludes statistical analysis across patients, may result from subtle differences in the patterns of intersecting characteristics of the tonic stretch reflex. The applicability of our analysis to disordered multijoint movement patterns is discussed.

[The three-dimensional simulation of arytenoid cartilage movement].

PubMed

Zhang, Jun; Wang, Xuefeng

2011-08-01

Exploring the characteristics of arytenoid cartilage movement. Using Pro/ENGINEER (Pro/E) software, the cricoid cartilage, arytenoid cartilage and vocal cords were simulated to the three-dimensional reconstruction, by analyzing the trajectory of arytenoid cartilage in the joint surface from the cricoid cartilage and arytenoid cartilage composition. The 3D animation simulation showed the normal movement patterns of the vocal cords and the characteristics of vocal cords movement in occasion of arytenoid cartilage dislocation vividly. The three-dimensional model has clinical significance for arytenoid cartilage movement disorders.

Oral and Hand Movement Speeds are Associated with Expressive Language Ability in Children with Speech Sound Disorder

PubMed Central

Peter, Beate

2013-01-01

This study tested the hypothesis that children with speech sound disorder have generalized slowed motor speeds. It evaluated associations among oral and hand motor speeds and measures of speech (articulation and phonology) and language (receptive vocabulary, sentence comprehension, sentence imitation), in 11 children with moderate to severe SSD and 11 controls. Syllable durations from a syllable repetition task served as an estimate of maximal oral movement speed. In two imitation tasks, nonwords and clapped rhythms, unstressed vowel durations and quarter-note clap intervals served as estimates of oral and hand movement speed, respectively. Syllable durations were significantly correlated with vowel durations and hand clap intervals. Sentence imitation was correlated with all three timed movement measures. Clustering on syllable repetition durations produced three clusters that also differed in sentence imitation scores. Results are consistent with limited movement speeds across motor systems and SSD subtypes defined by motor speeds as a corollary of expressive language abilities. PMID:22411590

Oral and hand movement speeds are associated with expressive language ability in children with speech sound disorder.

PubMed

Peter, Beate

2012-12-01

This study tested the hypothesis that children with speech sound disorder have generalized slowed motor speeds. It evaluated associations among oral and hand motor speeds and measures of speech (articulation and phonology) and language (receptive vocabulary, sentence comprehension, sentence imitation), in 11 children with moderate to severe SSD and 11 controls. Syllable durations from a syllable repetition task served as an estimate of maximal oral movement speed. In two imitation tasks, nonwords and clapped rhythms, unstressed vowel durations and quarter-note clap intervals served as estimates of oral and hand movement speed, respectively. Syllable durations were significantly correlated with vowel durations and hand clap intervals. Sentence imitation was correlated with all three timed movement measures. Clustering on syllable repetition durations produced three clusters that also differed in sentence imitation scores. Results are consistent with limited movement speeds across motor systems and SSD subtypes defined by motor speeds as a corollary of expressive language abilities.

Rapid Eye Movement Sleep Behavior Disorder in Paraneoplastic Cerebellar Degeneration: Improvement with Immunotherapy.

PubMed

Vale, Thiago Cardoso; Fernandes do Prado, Lucila Bizari; do Prado, Gilmar Fernandes; Povoas Barsottini, Orlando Graziani; Pedroso, José Luiz

2016-01-01

To report two female patients with paraneoplastic cerebellar degeneration (PCD) related to breast cancer that presented with rapid eye movement-sleep behavior disorder (RBD) and improved sleep symptoms with immunotherapy. The two patients were evaluated through clinical scale and polysomnography before and after therapy with intravenous immunoglobulin. RBD was successfully treated with immunotherapy in both patients. Score on the RBD screening questionnaire dropped from 10 to 1 or 0, allied with the normalization of polysomnographic findings. A marked improvement in RBD after immunotherapy in PCD raises the hypothesis that secondary RBD may be an immune-mediated sleep disorder. © 2016 Associated Professional Sleep Societies, LLC.

Neuropathology in movement disorders.

PubMed Central

Gibb, W R

1989-01-01

This review concentrates on the definition and classification of degenerative movement disorders in which Parkinsonian symptoms are often prominent. The pathological spectrum and clinical manifestations of Lewy body disease are described, and associations with Alzheimer's disease and motor neuron disease are explored. A classification of pallidonigral degenerations is based on clinical features, distribution of pathology, and morphological abnormalities; some of these patients have mild nigral degeneration and no Parkinsonian features. Many other juvenile and familial Parkinsonian cases are not included among the pallidonigral degenerations. Most of these latter syndromes have been organised into preliminary groups, in particular, autosomal dominant dystonia-Parkinson syndrome, juvenile Parkinsonian disorder and autosomal dominant Lewy body disease. Images PMID:2547027

Hemichorea after multiple bee stings.

PubMed

An, Jin Young; Kim, Ji Seon; Min, Jin Hong; Han, Kyu Hong; Kang, Jun Ho; Lee, Suk Woo; Kim, Hoon; Park, Jung Soo

2014-02-01

Bee sting is one of the most commonly encountered insect bites in the world. Despite the common occurrence of local and systemic allergic reactions, there are few reports of ischemic stroke after bee stings. To the best our knowledge, there have been no reports on involuntary hyperkinetic movement disorders after multiple bee stings. We report the case of a 50-year-old man who developed involuntary movements of the left leg 24 hours after multiple bee stings, and the cause was confirmed to be a right temporal infarction on a diffusion magnetic resonance imaging scan. Thus, we concluded that the involuntary movement disorder was caused by right temporal infarction that occurred after multiple bee stings.

Targeting bed nucleus of the stria terminalis for severe obsessive-compulsive disorder: more unexpected lead placement in obsessive-compulsive disorder than in surgery for movement disorders.

PubMed

Nuttin, Bart; Gielen, Frans; van Kuyck, Kris; Wu, Hemmings; Luyten, Laura; Welkenhuysen, Marleen; Brionne, Thomas C; Gabriëls, Loes

2013-01-01

In preparation for a multicenter study, a protocol was written on how to perform surgical targeting of the bed nucleus of the stria terminalis, based on the lead implantation experience in patients with treatment-refractory obsessive-compulsive disorder (OCD) at the Universitaire Ziekenhuizen Leuven (UZ Leuven). When analyzing the postoperative images, we were struck by the fact that the difference between the postoperative position of the leads and the planned position seemed larger than expected. The precision of targeting in four patients with severe OCD who received bilateral model 3391 leads (Medtronic) was compared with the precision of targeting in the last seven patients who underwent surgery at UZ Leuven for movement disorders (four with Parkinson disease and three with essential tremor; all received bilateral leads). Because the leads implanted in six of the seven patients with movement disorders were model 3387 leads (Medtronic), targeting precision was also analyzed in four patients with OCD in whom model 3387 leads were implanted in the same target as the other patients with OCD. In the patients with OCD, every implanted lead deviated at least 1.3 mm from its intended position in at least one of three directions (lateral, anteroposterior, and depth), whereas in the patients with movement disorders, the maximal deviation of any of all implanted leads was 1.3 mm. The deviations in lead placement were comparable in patients with OCD who received a model 3387 implant and patients who received a model 3391 implant. In the patients with OCD, all leads were implanted more posteriorly than planned. The cause of the posterior deviation could not be determined with certainty. The most likely cause was an increased mechanical resistance of the brain tissue along the trajectory when following the targeting protocol compared with the trajectories classically used for subthalamic nucleus or ventral intermediate nucleus of the thalamus stimulation. Copyright © 2013 Elsevier Inc. All rights reserved.

Computerized tomography in neuro-ophthalmology

DOE Office of Scientific and Technical Information (OSTI.GOV)

Moseley, I.F.; Sanders, M.D.

This highly specialized text is organized into sections that cover anatomy, diseases of the orbit, visual loss, optic nerve disease, disorders of eye movement, and heredofamilial, developmental, and metabolic disorders.

Dystonia: Related and Differential Disorders

MedlinePlus

... respond, too. What is the difference between a Parkinson's disease patient with dystonia and a dystonia patient with Parkinson's symptoms? Parkinson's disease is a neurological movement disorder with a wide ...

Safety and Efficacy Study of VY-AADC01 for Advanced Parkinson's Disease

ClinicalTrials.gov

2018-02-27

Idiopathic Parkinson's Disease; Parkinson's Disease; Basal Ganglia Disease; Brain Diseases; Central Nervous System Diseases; Movement Disorders; Nervous System Diseases; Neurodegenerative Diseases; Parkinsonian Disorders

Use of Botulinum Neurotoxin for the Treatment of Movement Disorders

MedlinePlus

... spasmodic dysphonia, or ABSD). Does BoNT control motor tics? Tics associated with Tourette syndrome are relatively brief, intermittent movements (also known as motor tics) or sounds (also known as vocal or phonic ...

Balance Problems

MedlinePlus

... need a hearing test, blood tests, or imaging studies of your head and brain. Other possible tests look at your eye movements, and how your body responds to movement. In some cases, treating the illness that is causing the disorder ...

Healthy Movements: Your Body's Mechanics

MedlinePlus

... devised improved treatments for movement disorders such as cerebral palsy and Parkinson’s disease. Joints are a common source ... which patients could benefit from surgery. People with cerebral palsy, Parkinson’s disease and multiple sclerosis could also benefit ...

Use of Movement Imagery in Neurorehabilitation: Researching Effects of a Complex Intervention

ERIC Educational Resources Information Center

Braun, Susy M.; Wade, Derick T.; Beurskens, Anna J. H. M.

2011-01-01

Since the beginning of the new millennium, the use of mental practice and movement imagery within several medical professions in rehabilitation and therapy has received an increased attention. Before this introduction in healthcare, the use of movement imagery was mainly researched in sports science. Mental practice is a complex intervention. When…

Diagnosis and treatment of impulse control disorders in patients with movement disorders.

PubMed

Mestre, Tiago A; Strafella, Antonio P; Thomsen, Teri; Voon, Valerie; Miyasaki, Janis

2013-05-01

Impulse control disorders are a psychiatric condition characterized by the failure to resist an impulsive act or behavior that may be harmful to self or others. In movement disorders, impulse control disorders are associated with dopaminergic treatment, notably dopamine agonists (DAs). Impulse control disorders have been studied extensively in Parkinson's disease, but are also recognized in restless leg syndrome and atypical Parkinsonian syndromes. Epidemiological studies suggest younger age, male sex, greater novelty seeking, impulsivity, depression and premorbid impulse control disorders as the most consistent risk factors. Such patients may warrant special monitoring after starting treatment with a DA. Various individual screening tools are available for people without Parkinson's disease. The Questionnaire for Impulsive-Compulsive Disorders in Parkinson's Disease has been developed specifically for Parkinson's disease. The best treatment for impulse control disorders is prevention. However, after the development of impulse control disorders, the mainstay intervention is to reduce or discontinue the offending anti-Parkinsonian medication. In refractory cases, other pharmacological interventions are available, including neuroleptics, antiepileptics, amantadine, antiandrogens, lithium and opioid antagonists. Unfortunately, their use is only supported by case reports, small case series or open-label clinical studies. Prospective, controlled studies are warranted. Ongoing investigations include naltrexone and nicotine.

Responses of Purkinje cells in the oculomotor vermis of monkeys during smooth pursuit eye movements and saccades: comparison with floccular complex.

PubMed

Raghavan, Ramanujan T; Lisberger, Stephen G

2017-08-01

We recorded the responses of Purkinje cells in the oculomotor vermis during smooth pursuit and saccadic eye movements. Our goal was to characterize the responses in the vermis using approaches that would allow direct comparisons with responses of Purkinje cells in another cerebellar area for pursuit, the floccular complex. Simple-spike firing of vermis Purkinje cells is direction selective during both pursuit and saccades, but the preferred directions are sufficiently independent so that downstream circuits could decode signals to drive pursuit and saccades separately. Complex spikes also were direction selective during pursuit, and almost all Purkinje cells showed a peak in the probability of complex spikes during the initiation of pursuit in at least one direction. Unlike the floccular complex, the preferred directions for simple spikes and complex spikes were not opposite. The kinematics of smooth eye movement described the simple-spike responses of vermis Purkinje cells well. Sensitivities were similar to those in the floccular complex for eye position and considerably lower for eye velocity and acceleration. The kinematic relations were quite different for saccades vs. pursuit, supporting the idea that the contributions from the vermis to each kind of movement could contribute independently in downstream areas. Finally, neither the complex-spike nor the simple-spike responses of vermis Purkinje cells were appropriate to support direction learning in pursuit. Complex spikes were not triggered reliably by an instructive change in target direction; simple-spike responses showed very small amounts of learning. We conclude that the vermis plays a different role in pursuit eye movements compared with the floccular complex. NEW & NOTEWORTHY The midline oculomotor cerebellum plays a different role in smooth pursuit eye movements compared with the lateral, floccular complex and appears to be much less involved in direction learning in pursuit. The output from the oculomotor vermis during pursuit lies along a null-axis for saccades and vice versa. Thus the vermis can play independent roles in the two kinds of eye movement. Copyright © 2017 the American Physiological Society.

Deep-Brain Stimulation for Basal Ganglia Disorders

PubMed Central

Wichmann, Thomas; DeLong, Mahlon R.

2011-01-01

The realization that medications used to treat movement disorders and psychiatric conditions of basal ganglia origin have significant shortcomings, as well as advances in the understanding of the functional organization of the brain, has led to a renaissance in functional neurosurgery, and particularly the use of deep brain stimulation (DBS). Movement disorders are now routinely being treated with DBS of ‘motor’ portions of the basal ganglia output nuclei, specifically the subthalamic nucleus and the internal pallidal segment. These procedures are highly effective and generally safe. Use of DBS is also being explored in the treatment of neuropsychiatric disorders, with targeting of the ‘limbic’ basal ganglia-thalamocortical circuitry. The results of these procedures are also encouraging, but many unanswered questions remain in this emerging field. This review summarizes the scientific rationale and practical aspects of using DBS for neurologic and neuropsychiatric disorders. PMID:21804953

Management of sleep disorders in Parkinson's disease and multiple system atrophy.

PubMed

Videnovic, Aleksandar

2017-05-01

Parkinson's disease (PD) and multiple system atrophy (MSA) are disorders associated with α synuclein-related neurodegeneration. Nonmotor symptoms are common hallmarks of these disorders, and disturbances of the sleep-wake cycle are among the most common nonmotor symptoms. It is only recently that sleep disturbances have received the attention of the medical and research community. Significant progress has been made in understanding the pathophysiology of sleep and wake disruption in alphasynucleinopathies during the past few decades. Despite these advancements, treatment options are limited and frequently associated with problematic side effects. Further studies that center on the development of novel treatment approaches are very much needed. In this article, the author discusses the current state of the management of disturbed sleep and alertness in PD and MSA. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Leg Movement Activity During Sleep in Adults With Attention-Deficit/Hyperactivity Disorder.

PubMed

Garbazza, Corrado; Sauter, Cornelia; Paul, Juliane; Kollek, Jenny; Dujardin, Catharine; Hackethal, Sandra; Dorn, Hans; Peter, Anita; Hansen, Marie-Luise; Manconi, Mauro; Ferri, Raffaele; Danker-Hopfe, Heidi

2018-01-01

Objectives: To conduct a first detailed analysis of the pattern of leg movement (LM) activity during sleep in adult subjects with Attention-Deficit/Hyperactivity Disorder (ADHD) compared to healthy controls. Methods: Fifteen ADHD patients and 18 control subjects underwent an in-lab polysomnographic sleep study. The periodic character of LMs was evaluated with established markers of "periodicity," i.e., the periodicity index, intermovement intervals, and time distribution of LM during sleep, in addition to standard parameters such as the periodic leg movement during sleep index (PLMSI) and the periodic leg movement during sleep arousal index (PLMSAI). Subjective sleep and psychiatric symptoms were assessed using several, self-administered, screening questionnaires. Results: Objective sleep parameters from the baseline night did not significantly differ between ADHD and control subjects, except for a longer sleep latency (SL), a longer duration of the periodic leg movements during sleep (PLMS) in REM sleep and a higher PLMSI also in REM sleep. Data from the sleep questionnaires showed perception of poor sleep quality in ADHD patients. Conclusions: Leg movements during sleep in ADHD adults are not significantly more frequent than in healthy controls and the nocturnal motor events do not show an increased periodicity in these patients. The non-periodic character of LMs in ADHD has already been shown in children and seems to differentiate ADHD from other pathophysiological related conditions like restless legs syndrome (RLS) or periodic limb movement disorder (PLMD). The reduced subjective sleep quality reported by ADHD adults contrasted with the normal objective polysomnographic parameters, which could suggest a sleep-state misperception in these individuals or more subtle sleep abnormalities not picked up by the traditional sleep staging.

Delayed-onset progressive movement disorders after static brain lesions.

PubMed

Scott, B L; Jankovic, J

1996-01-01

We studied 53 patients (64% females) with static brain lesions who developed progressive movement disorders. Of these, 50 (94%) had dystonia, 17 (32%) tremor, eight (15%) parkinsonism, seven (13%) myoclonus, and three (6%) chorea. The precipitating insults included perinatal hypoxia/ischemia in 22 (42%), stroke in 12 (23%), head injury in eight (15%), encephalitis in eight (15%), and carbon monoxide poisoning, kernicterus, and radiation necrosis in one patient (2%) each. Among the 30 patients with initial insult occurring at age 2 years or younger (Infant group), distribution of dystonia at follow-up was focal in three (10%), segmental in eight (27%), unilateral in 10 (33%), and generalized in nine (30%). The mean latency between the original injury and onset of movement disorder was 25.5 +/- 16.7 years. Among the nine patients who developed dystonia after an insult occurring between ages 6 and 17 (Childhood group), the distribution of dystonia at follow-up was segmental in two (33%) and unilateral in seven (78%); the mean latency of dystonia onset was 4.9 +/- 7.8 years. Of the 14 patients in the Adult group (injury at age 25 or older), 11 developed dystonia, two developed parkinsonism, and one had carbon monoxide encephalopathy and parkinsonism. The distribution of dystonia in the 11 patients at follow-up was segmental in three (27%) and unilateral in eight (73%). The mean latency of movement disorder onset in the 14 patients of the Adult group was 2.5 +/- 4.9 years. No individuals in the Childhood or Adult groups became left-hand dominant; by comparison, nine of the 30 individuals in the Infant group became left-handed. In conclusion, brain injury at a young age is associated with a longer latency to onset of subsequent movement disorder, a greater tendency to development of generalized dystonia, and a greater probability of altered handedness. These tendencies may result from differences in age-related neuroplasticity.

Implementation of an Integrative Holistic Healthcare Model for People Living with Parkinson's Disease.

PubMed

Pretzer-Aboff, Ingrid; Prettyman, Allen

2015-06-01

Research demonstrates that people with Parkinson's disease (PD) benefit greatly from multidisciplinary medical care. Delaware does not have a Movement Disorder Center or a movement disorder specialist. To address this issue, the University of Delaware Nurse Managed Health Center (NMHC) developed a novel PD Telehealth Clinic serving individuals with PD and their caregivers throughout Delaware. The PD clinic is based on a collaborative framework that uses synchronous videoconferencing telehealth technology to bring together out-of-state clinicians and scientists with expertise in PD to help deliver specialized care to PD patients and their caregivers. The team includes a movement disorder specialist, psychologists, nurse practitioners, researchers, physical and speech therapists, exercise physiologists, nutritionists, and graduate students. The PD Clinic delivery model seamlessly blends telehealth provider and onsite provider interactions, enabling the diagnosis, treatment, and ongoing management of PD. In the first 6 months of the Parkinson's clinic opening, the nurse practitioners along with the movement disorder specialist evaluated 36 PD patients. Several patients have received recommendations to change their medication regimen by the movement disorder specialist. About 20 patients were referred to physical therapy, 7 to speech therapy, 9 to mental health services, 1 to occupational therapy, and 12 to local support groups. The location of the NMHC-PD clinic has reduced travel time and distance by as much as 1.5 hr or 80 miles, each way, and wait time for a new patient appointment is less than 3 months. The NMHC - PD Telehealth Clinic provides access to specialized multidisciplinary and advanced care and was successfully implemented. This model can be replicated in other nurse managed health centers across the United States. © The Author 2015. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Cross-slope Movement Patterns in Landslides

NASA Astrophysics Data System (ADS)

Petley, D.; Murphy, W.; Bulmer, M. H.; Keefer, D.

2002-12-01

There is growing evidence that there is a significant element of cross-slope movement in many large landslide systems. These movements may result in changing states of stress between landslide blocks that can establish complex displacement patterns. Such motions, which are not considered in traditional two-dimensional limit-equilibrium analyses, are important in the investigation of a variety of landslide types, such as those triggered by earthquakes. In addition, these movements may introduce considerable errors into the interpretation of strain patterns as derived from InSAR studies. Finally, even traditional interpretation techniques may lead to the amount of total displacement being underestimated. These observations suggest that a three dimensional form of analysis may be more appropriate for large landslide complexes. The significance of such cross-slope movements are being investigated using a detailed investigation of the Lishan landslide complex in Central Taiwan. This landslide system, which was reactivated in 1990 related to the construction of a hotel. The total recorded movements have been approximately 1.5 m over an area of sliding that is estimated to be 450 m wide and 200 m long. Extensive damage has been caused to roads and buildings within the town. Remediation work has resulted largely in the stabilization of the landslide complex. Detailed geomorphological mapping has revealed that the landslide complex is composed of two main components. The first, immediately upslope of the hotel construction site, is a relatively shallow earthflow. The second, which has formed a large headscarp upslope from the main road in the centre of the town, is a deeper translational slide. Both appear to have been reactivations of previous failures. While the displacement patterns of the earthflow indicate a relatively simple downslope movement, the vectors derived from kinematic analysis of surface features have indicated that the movement of the deeper-seated landslide was more complex. Though the dominant movement vector is downslope, there is evidence to suggest that there has been a cross-slope component of motion that corresponds to the bedding orientation.

[Anti-basal ganglia antibody].

PubMed

Hayashi, Masaharu

2013-04-01

Sydenham's chorea (SC) is a major manifestation of rheumatic fever, and the production of anti-basal ganglia antibodies (ABGA) has been proposed in SC. The pathogenesis is hypothesized as autoimmune targeting of the basal ganglia via molecular mimicry, triggered by streptococcal infection. The spectrum of diseases in which ABGA may be involved has been broadened to include other extrapyramidal movement disorders, such as tics, dystonia, and Parkinsonism, as well as other psychiatric disorders. The autoimmune hypothesis in the presence and absence of ABGA has been suggested in Tourette's syndrome (TS), early onset obsessive-compulsive disorders (OCD), and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Recently, the relationship between ABGA and dopamine neurons in the basal ganglia has been examined, and autoantibodies against dopamine receptors were detected in the sera from patients with basal ganglia encephalitis. In Japan, the occurrence of subacute encephalitis, where patients suffer from episodes of altered behavior and involuntary movements, has increased. Immune-modulating treatments are effective, indicating the involvement of an autoimmune mechanism. We aimed to detect the anti-neuronal autoantibodies in such encephalitis, using immunohistochemical assessment of patient sera. The sera from patients showing involuntary movements had immunoreactivity for basal ganglia neurons. Further epitopes for ABGA will be investigated in basal ganglia disorders other than SC, TS, OCD, and PANDAS.

Proteomic identification of aldolase A as an autoantibody target in patients with atypical movement disorders.

PubMed

Privitera, Daniela; Corti, Valeria; Alessio, Massimo; Volontè, Maria Antonietta; Volontè, Antonietta; Lampasona, Vito; Comi, Giancarlo; Martino, Gianvito; Franciotta, Diego; Furlan, Roberto; Fazio, Raffaella

2013-03-01

We tried to identify the target/s of autoantibodies to basal ganglia neurons found in a patient with hyperkinetic movement disorders (HMD) characterized by rapid, rhythmic involuntary movements or spasms in both face and neck. Patient and control sera were used in Western blot to probe mouse brain homogenates. Two-dimensional gel electrophoresis (2-DE) SDS-PAGE protein spots recognized by the patient's antibodies were excised and sequenced by mass spectrometry analysis, and the glycolytic enzyme aldolase A was identified as the antigen recognized by the patient's autoantibodies. To assess relevance and specificity of these antibodies to the identified targets as biomarkers of autoimmunity in movement disorders, autoantibody responses to the identified target were then measured by ELISA in various diseases of the central nervous system. Anti-aldolase A autoantibodies were associated mainly with HMD (7/17, 41%) and Parkinson's disease (4/30, 13%) patients, and undetectable in subjects with other inflammatory and non-inflammatory central nervous system diseases. We, thus, identified aldolase A as an autoantigen in a sub-group of patients with HMD, a clinically ill-defined syndrome. Anti-aldolase A antibodies may represent a useful biomarker of autoimmunity in HMD patients.

Faciobrachial dystonic seizures result from fronto-temporo-basalganglial network involvement.

PubMed

Iyer, Rajesh Shankar; Ramakrishnan, T C R; Karunakaran; Shinto, Ajit; Kamaleshwaran, Koramadai Karuppuswamy

2017-01-01

•Faciobrachial dystonic seizures (FBDS) are caused by autoantibodies to leucine-rich glioma-inactivated1 proteins, a component of the voltage-gated potassium channel complex (VGKC-complex) and precede the clinical presentation of limbic encephalitis.•The exact pathophysiology of FBDS is not known and whether they are seizures or movement disorder is still debated.•We suggest the fronto-temporo-basal ganglia network involving the medial frontal and temporal regions along with the corpus striatum and substantia nigra being responsible for the clinical phenomenon of FBDS.•The varied clinical, electrical and imaging features of FBDS in our cases and in the literature are best explained by involvement of this network.•Entrainment from any part of this network will result in similar clinical expression of FBDS, whereas other electro-clinical associations and duration depends on the extent of involvement of the network.

Adult head-banging and stereotypic movement disorders.

PubMed

Mendez, M F; Mirea, A

1998-09-01

Stereotypic movement disorders (SMD) such as head-banging, which are common among children with mental retardation or pervasive developmental disorders, may also occur in intellectually normal adults. We report a 27-year history of daily head-banging with self-injury in a 49-year-old man with normal cognition. The patient had no personal or family history of Tourette's syndrome, tic disorder, obsessive-compulsive disorder (OCD), or mental retardation. The frequency of his stereotypical head-banging increased with anxiety, loud noises with startle, and boredom. He reported a sense of pleasure from his head-banging, and the frequency of this behavior decreased when he was treated with the opioid antagonist naltrexone. Although not diagnostic, the self-stimulatory or pleasurable component of head-banging, body-rocking, thumb-sucking, and other SMD may help distinguish them from tics, Tourette's syndrome, OCD, and deliberate self-harming behavior. This report reviews the disorders associated with SMD and discusses the potential mechanisms for these behaviors. The treatment of SMD includes drugs that work through opioid, serotonergic, or dopaminergic systems.

Genetics Home Reference: horizontal gaze palsy with progressive scoliosis

MedlinePlus

... to track moving objects. Up-and-down (vertical) eye movements are typically normal. In people with HGPPS , an ... the brainstem is the underlying cause of the eye movement abnormalities associated with the disorder. The cause of ...

Dissecting the links between cerebellum and dystonia.

PubMed

Malone, Ailish; Manto, Mario; Hass, Chris

2014-12-01

Dystonia is a common movement disorder characterized by sustained muscle contractions. These contractions generate twisting and repetitive movements or typical abnormal postures, often exacerbated by voluntary movement. Dystonia can affect almost all the voluntary muscles. For several decades, the discussion on the pathogenesis has been focused on basal ganglia circuits, especially striatal networks. So far, although dystonia has been observed in some forms of ataxia such as dominant ataxias, the link between the cerebellum and dystonia has remained unclear. Recent human studies and experimental data mainly in rodents show that the cerebellum circuitry could also be a key player in the pathogenesis of some forms of dystonia. In particular, studies based on behavioral adaptation paradigm shed light on the links between dystonia and cerebellum. The spectrum of movement disorders in which the cerebellum is implicated is continuously expanding, and manipulation of cerebellar circuits might even emerge as a candidate therapy in the coming years.

Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?

PubMed

Roze, Emmanuel; Cochen, Valérie; Sangla, Sophie; Bienvenu, Thierry; Roubergue, Anne; Leu-Semenescu, Smaranda; Vidaihet, Marie

2007-02-15

Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.

Stereotypic movement disorder: easily missed.

PubMed

Freeman, Roger D; Soltanifar, Atefeh; Baer, Susan

2010-08-01

To expand the understanding of stereotypic movement disorder (SMD) and its differentiation from tics and autistic stereotypies. Forty-two children (31 males, mean age 6y 3mo, SD 2y 8mo; 11 females, mean age 6y 7mo, SD 1y 9mo) consecutively diagnosed with SMD, without-self-injurious behavior, intellectual disability, sensory impairment, or an autistic spectrum disorder (ASD), were assessed in a neuropsychiatry clinic. A list of probe questions on the nature of the stereotypy was administered to parents (and to children if developmentally ready). Questionnaires administered included the Stereotypy Severity Scale, Short Sensory Profile, Strengths and Difficulties Questionnaire, Repetitive Behavior Scale--Revised, and the Developmental Coordination Disorder Questionnaire. The stereotyped movement patterns were directly observed and in some cases further documented by video recordings made by parents. The probe questions were used again on follow-up at a mean age of 10 years 7 months (SD 4y 4mo). Mean age at onset was 17 months. Males exceeded females by 3:1. Family history of a pattern of SMD was reported in 13 and neuropsychiatric comorbidity in 30 (attention-deficit-hyperactivity disorder in 16, tics in 18, and developmental coordination disorder in 16). Obsessive-compulsive disorder occurred in only two. The Short Sensory Profile correlated with comorbidity (p<0.001), the Stereotypy Severity Scale (p=0.009), and the Repetitive Behavior Scale (p<0.001); the last correlated with the Stereotypy Severity Scale (p=0.001). Children (but not their parents) liked their movements, which were usually associated with excitement or imaginative play. Mean length of follow-up was 4 years 8 months (SD 2y 10mo). Of the 39 children followed for longer than 6 months, the behavior stopped or was gradually shaped so as to occur primarily privately in 25. Misdiagnosis was common: 26 were initially referred as tics, 10 as ASD, five as compulsions, and one as epilepsy. Co-occurring facial grimacing in 15 children and vocalization in 22 contributed to diagnostic confusion. SMD occurs in children without ASD or intellectual disability. The generally favorable clinical course is largely due to a gradual increase in private expression of the movements. Severity of the stereotypy is associated with sensory differences and psychopathology. Differentiation of SMD from tics and ASD is important to avoid misdiagnosis and unnecessary treatment.

International Parkinson and movement disorder society evidence-based medicine review: Update on treatments for the motor symptoms of Parkinson's disease.

PubMed

Fox, Susan H; Katzenschlager, Regina; Lim, Shen-Yang; Barton, Brandon; de Bie, Rob M A; Seppi, Klaus; Coelho, Miguel; Sampaio, Cristina

2018-03-23

The objective of this review was to update evidence-based medicine recommendations for treating motor symptoms of Parkinson's disease (PD). The Movement Disorder Society Evidence-Based Medicine Committee recommendations for treatments of PD were first published in 2002 and updated in 2011, and we continued the review to December 31, 2016. Level I studies of interventions for motor symptoms were reviewed. Criteria for inclusion and quality scoring were as previously reported. Five clinical indications were considered, and conclusions regarding the implications for clinical practice are reported. A total of 143 new studies qualified. There are no clinically useful interventions to prevent/delay disease progression. For monotherapy of early PD, nonergot dopamine agonists, oral levodopa preparations, selegiline, and rasagiline are clinically useful. For adjunct therapy in early/stable PD, nonergot dopamine agonists, rasagiline, and zonisamide are clinically useful. For adjunct therapy in optimized PD for general or specific motor symptoms including gait, rivastigmine is possibly useful and physiotherapy is clinically useful; exercise-based movement strategy training and formalized patterned exercises are possibly useful. There are no new studies and no changes in the conclusions for the prevention/delay of motor complications. For treating motor fluctuations, most nonergot dopamine agonists, pergolide, levodopa ER, levodopa intestinal infusion, entacapone, opicapone, rasagiline, zonisamide, safinamide, and bilateral STN and GPi DBS are clinically useful. For dyskinesia, amantadine, clozapine, and bilateral STN DBS and GPi DBS are clinically useful. The options for treating PD symptoms continues to expand. These recommendations allow the treating physician to determine which intervention to recommend to an individual patient. © 2018 International Parkinson and Movement Disorder Society. © 2018 International Parkinson and Movement Disorder Society.

Origins of Balance Disorders during a Daily Living Movement in Obese: Can Biomechanical Factors Explain Everything?

PubMed Central

Mignardot, Jean-Baptiste; Olivier, Isabelle; Promayon, Emmanuel; Nougier, Vincent

2013-01-01

Obese people suffer from postural deficits and are more subject to falls than their lean counterpart. To improve prevention and post-fall rehabilitation programs, it seems important to better understand the posturo-kinetic disorders in daily life situations by determining the contribution of some key factors, mainly morphological characteristics and physical activity level, in the apparition of these disorders. Twelve severe android obese and eight healthy non obese adults performed a reaching task mobilizing the whole body. To further determine the origin of the postural and motor behavior differences, non obese individuals also performed an experimental session with additional constraints which simulated some of the obese morphological characteristics. Impact of the sedentary lifestyle was also studied by dissociation of the obese in two subgroups: physically « active » and physically « inactive ». Movement kinetics and kinematics were characterized with an optoelectronic system synchronized to a force platform. The mechanical equilibrium pattern was evaluated through the displacements of the Centre of Mass (CoM) and the centre of foot pressure within the Base of Support (BoS). Results showed that obesity decreased movement speed (≈−23%, p<0.01), strongly increased CoM displacement (≈+30%, p<0.05) and induced an important spatio-temporal desynchronization (≈+40%, p<0.05) of the focal and postural components of the movement during the transition between the descending and ascending movements. The role of some morphological characteristics and of physical activity on obese patients' postural control disorder is discussed and set back in the more general context of overall factors contributing to postural deficits with obesity. PMID:23560097

Origins of balance disorders during a daily living movement in obese: can biomechanical factors explain everything?

PubMed

Mignardot, Jean-Baptiste; Olivier, Isabelle; Promayon, Emmanuel; Nougier, Vincent

2013-01-01

Obese people suffer from postural deficits and are more subject to falls than their lean counterpart. To improve prevention and post-fall rehabilitation programs, it seems important to better understand the posturo-kinetic disorders in daily life situations by determining the contribution of some key factors, mainly morphological characteristics and physical activity level, in the apparition of these disorders. Twelve severe android obese and eight healthy non obese adults performed a reaching task mobilizing the whole body. To further determine the origin of the postural and motor behavior differences, non obese individuals also performed an experimental session with additional constraints which simulated some of the obese morphological characteristics. Impact of the sedentary lifestyle was also studied by dissociation of the obese in two subgroups: physically « active » and physically « inactive ». Movement kinetics and kinematics were characterized with an optoelectronic system synchronized to a force platform. The mechanical equilibrium pattern was evaluated through the displacements of the Centre of Mass (CoM) and the centre of foot pressure within the Base of Support (BoS). Results showed that obesity decreased movement speed (≈-23%, p<0.01), strongly increased CoM displacement (≈+30%, p<0.05) and induced an important spatio-temporal desynchronization (≈+40%, p<0.05) of the focal and postural components of the movement during the transition between the descending and ascending movements. The role of some morphological characteristics and of physical activity on obese patients' postural control disorder is discussed and set back in the more general context of overall factors contributing to postural deficits with obesity.

Night-to-Night Variability of Muscle Tone, Movements, and Vocalizations in Patients with REM Sleep Behavior Disorder

PubMed Central

Cygan, Fanny; Oudiette, Delphine; Leclair-Visonneau, Laurène; Leu-Semenescu, Smaranda; Arnulf, Isabelle

2010-01-01

Objectives: The video-polysomnographic criteria of REM sleep behavior disorder (RBD) have not been well described. We evaluated the between-night reproducibility of phasic and tonic enhanced muscle activity during REM sleep as well as the associated behaviors and vocalizations of the patients. Methods: Fifteen patients with clinical RBD underwent two consecutive video-polysomnographies. The amount of excessive phasic and tonic chin muscle activity during REM sleep was measured in 15 patients in 3-sec mini-epochs. The time spent with motor (minor, major, complex, and scenic) or vocal (sounds, mumblings, and comprehensible speeches) events was measured in 7 patients during REM sleep. Results: There was a good between-night agreement for tonic (Spearman rho = 0.55, p = 0.03; Kendall tau = 0.48, p = 0.01) but not for phasic (rho = 0.47, p = 0.1; tau = 0.31, p = 0.1) excessive chin muscle activity. On the video and audio recordings, the minor RBD behaviors tended to occur more frequently during the second night than the first, whereas the patients spoke longer during the first than the second night. Conclusion: The excessive tonic activity during REM sleep is a reliable marker of RBD. It could represent the extent of dysfunction in the permissive atonia systems. In contrast, the more variable phasic activity and motor/vocal events could be more dependent on dream content (executive systems). Citation: Cygan F; Oudiette D; Leclair-Visonneau L; Leu-Semenescu S; Arnulf I. Night-to-night variability of muscle tone, movements, and vocalizations in patients with REM sleep behavior disorder. J Clin Sleep Med 2010;6(6):551-555. PMID:21206543

Motor-Behavioral Episodes in REM Sleep Behavior Disorder and Phasic Events During REM Sleep

PubMed Central

Manni, Raffaele; Terzaghi, Michele; Glorioso, Margaret

2009-01-01

Study Objectives: To investigate if sudden-onset motor-behavioral episodes in REM sleep behavior disorder (RBD) are associated with phasic events of REM sleep, and to explore the potential meaning of such an association. Design: Observational review analysis. Setting: Tertiary sleep center. Patients: Twelve individuals (11 males; mean age 67.6 ± 7.4 years) affected by idiopathic RBD, displaying a total of 978 motor-behavioral episodes during nocturnal in-laboratory video-PSG. Interventions: N/A Measurements and Results: The motor activity displayed was primitive in 69.1% and purposeful/semi-purposeful in 30.9% of the motor-behavioral episodes recorded. Sleeptalking was significantly more associated with purposeful/semi-purposeful motor activity than crying and/or incomprehensible muttering (71.0% versus 21.4%, P < 0.005). In 58.2% of the motor-behavioral episodes, phasic EEG-EOG events (rapid eye movements [REMs], α bursts, or sawtooth waves [STWs]) occurred simultaneously. Each variable (REMs, STWs, α bursts) was associated more with purposeful/semi-purposeful than with primitive movements (P < 0.05). Conclusions: Motor-behavioral episodes in RBD were significantly more likely to occur in association with phasic than with tonic periods of REM sleep. The presence of REMs, α bursts and STWs was found to be more frequent in more complex episodes. We hypothesize that motor-behavioral episodes in RBD are likely to occur when the brain, during REM sleep, is in a state of increased instability (presence of α bursts) and experiencing stronger stimulation of visual areas (REMs). Citation: Manni R; Terzaghi M; Glorioso M. Motor-behavioral episodes in REM sleep behavior disorder and phasic events during REM sleep. SLEEP 2009;32(2):241–245. PMID:19238811

Atypical sexual behavior during sleep.

PubMed

Guilleminault, Christian; Moscovitch, Adam; Yuen, Kin; Poyares, Dalva

2002-01-01

This article reports a case series of atypical sexual behavior during sleep, which is often harmful to patients or bed partners. Eleven subjects underwent clinical evaluation of complaints of sleep-related atypical sexual behavior. Complaints included violent masturbation, sexual assaults, and continuous (and loud) sexual vocalizations during sleep. One case was a medical-legal case. Sleep logs, clinical evaluations, sleep questionnaires, structured psychiatric interviews, polysomnography, actigraphy, home electroencephalographic monitoring during sleep, and clinical electroencephalographic monitoring while awake and asleep were used to determine clinical diagnoses. Atypical sexual behaviors during sleep were associated with feelings of guilt, shame, and depression. Because of these feelings, patients and bed partners often tolerated the abnormal behavior for long periods of time without seeking medical attention. The following pathologic sleep disorders were demonstrated on polysomnography: partial complex seizures, sleep-disordered breathing, stage 3 to 4 non-rapid eye movement (REM) sleep parasomnias, and REM sleep behavior disorder. These findings were concurrent with morning amnesia. The atypical behaviors were related to different syndromes despite the similarity of complaints from bed partners. In most cases the disturbing and often harmful symptoms were controlled when counseling was instituted and sleep disorders were treated. In some cases treatment of seizures or psychiatric disorders was also needed. Clonazepam with simultaneous psychotherapy was the most common successful treatment combination. The addition of antidepressant or antiepileptic medications was required in specific cases.

Mortality risk in a nationwide cohort of individuals with tic disorders and with tourette syndrome.

PubMed

Meier, Sandra M; Dalsgaard, Søren; Mortensen, Preben B; Leckman, James F; Plessen, Kerstin J

2017-04-01

Few studies have investigated mortality risk in individuals with tic disorders. We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders. The risk of premature death was higher among individuals with tic disorders (mortality rate ratio, 2.02; 95% CI, 1.49-2.66) and with Tourette syndrome (mortality rate ratio, 1.63; 95% CI, 1.11-2.28) compared with controls. After the exclusion of individuals with comorbid attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and substance abuse, tic disorder remained associated with increased mortality risk (mortality rate ratio, 2.30; 95% CI, 1.57-3.23), as did also Tourette Syndrome (mortality rate ratio, 1.81; 95% CI, 1.11-2.75). These results are of clinical significance for clinicians and advocacy organizations. Several factors may contribute to this increased risk of premature death, and more research mapping out these factors is needed. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

Neurodiversity: Autism Pride among Mothers of Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Cascio, M. Ariel

2012-01-01

The neurodiversity movement takes an identity politics approach to autism spectrum disorders, proposing autism spectrum disorders as a positive "neuro-variation" to be approached only with interventions that assist individuals without changing them. This article explicates the concept of "neurodiversity" and places it within…

A pilot study to compare the cerebral hemodynamics between patients with obstructive sleep apnea syndrome (OSA) and periodic limb movement syndrome (PLMS) during nocturnal sleep with near-infrared spectroscopy (NIRS)

NASA Astrophysics Data System (ADS)

Zhang, Zhongxing; Schneider, Maja; Laures, Marco; Fritschi, Ursula; Hügli, Gordana; Lehner, Isabella; Qi, Ming; Khatami, Ramin

2014-03-01

Obstructive sleep apnea syndrome (OSA) and periodic limb movement in sleep syndrome (PLMS) are two common sleep disorders. Previous studies showed that OSA and PLMS share common features, such as increased cardio-vascular risk, both apnea events and limb movements occur periodically, they are usually associated with cortical arousals, and both of them can induce declines in peripheral oxygen saturation measured with pulse oximetry. However, the question whether apnea events and limb movements also show similar characteristics in cerebral hemodynamic and oxygenation has never been addressed. In this pilot study, we will first time compare the cerebral hemodynamic changes induced by apnea events and limb movements in patients with OSA (n=4) and PLMS (n=4) with NIRS. In patients with OSA, we found periodic oscillations in HbO2, HHb, and blood volume induced by apnea/hypopnea events, HbO2 and HHb showed reverse changing trends. By contrast, the periodic oscillations linked to limb movements were only found in HbO2 and blood volume in patients with PLMS. These findings of different cerebral hemodynamics patterns between apnea events and limb movements may indicate different regulations of nervous system between these two sleep disorders.

[Streptococcus pyogenes and the brain: living with the enemy].

PubMed

Dale, R C

Streptococcus pyogenes (or group A beta hemolytic streptococcus) is a pathogenic bacterium that can give rise to a range of invasive and autoimmune diseases, although it is more widely known as the cause of tonsillitis. It is particularly interesting to note that this germ only causes disease in humans. For many years it has been acknowledged that it can cause an autoimmune brain disease (Sydenham s chorea). Yet, the spectrum of post streptococcal brain disorders has recently been extended to include other movement disorders such as tics or dystonia. A number of systematic psychiatric studies have shown that certain emotional disorders generally accompany the movement disorder (particularly, obsessive compulsive disorder). The proposed pathogenetic mechanism is that of a neuronal dysfunction in which antibodies play a mediating role. The antibodies that are produced after the streptococcal infection cross react with neuronal proteins, and more especially so in individuals with a propensity. This represents a possible model of immunological mimicry and its potential importance with respect to certain idiopathic disorders such as Tourette syndrome and obsessive compulsive disorder.

Live cell imaging of mitochondrial movement along actin cables in budding yeast.

PubMed

Fehrenbacher, Kammy L; Yang, Hyeong-Cheol; Gay, Anna Card; Huckaba, Thomas M; Pon, Liza A

2004-11-23

Mitochondrial inheritance is essential for cell division. In budding yeast, mitochondrial movement from mother to daughter requires (1) actin cables, F-actin bundles that undergo retrograde movement during elongation from buds into mother cells; (2) the mitochore, a mitochondrial protein complex implicated in linking mitochondria to actin cables; and (3) Arp2/3 complex-mediated force generation on mitochondria. We observed three new classes of mitochondrial motility: anterograde movement at velocities of 0.2-0.33 microm/s, retrograde movement at velocities of 0.26-0.51 microm/s, and no net anterograde or retrograde movement. In all cases, motile mitochondria were associated with actin cables undergoing retrograde flow at velocities of 0.18-0.62 microm/s. Destabilization of actin cables or mutations of the mitochore blocked all mitochondrial movements. In contrast, mutations in the Arp2/3 complex affected anterograde but not retrograde mitochondrial movements. Actin cables are required for movement of mitochondria, secretory vesicles, mRNA, and spindle alignment elements in yeast. We provide the first direct evidence that one of the proposed cargos use actin cables as tracks. In the case of mitochondrial inheritance, anterograde movement drives transfer of the organelle from mothers to buds, while retrograde movement contributes to retention of the organelle in mother cells. Interaction of mitochondria with actin cables is required for anterograde and retrograde movement. In contrast, force generation on mitochondria is required only for anterograde movement. Finally, we propose a novel mechanism in which actin cables serve as "conveyor belts" that drive retrograde organelle movement.

Musician's cramp as manifestation of maladaptive brain plasticity: arguments from instrumental differences.

PubMed

Altenmüller, Eckart; Baur, Volker; Hofmann, Aurélie; Lim, Vanessa K; Jabusch, Hans-Christian

2012-04-01

Musician's cramp is a task-specific movement disorder that presents itself as muscular incoordination or loss of voluntary motor control of extensively trained movements while a musician is playing the instrument. It is characterized by task specificity and gender bias, affecting significantly more males than females. The etiology is multifaceted: a combination of a genetic predisposition, termed endophenotype, and behavioral triggering factors being the leading features for the manifestation of the disorder. We present epidemiological data from 591 musician patients from our outpatient clinic demonstrating an influence of fine-motor requirements on the manifestation of dystonia. Brass, guitar, and woodwind players were at greater risk than other instrumentalists. High temporospatial precision of movement patterns, synchronous demands on tonic and phasic muscular activation, in combination with fine-motor burdens of using the dominant hand in daily life activities, constitute as triggering factors for the disorder and may explain why different body parts are affected. © 2012 New York Academy of Sciences.

Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?

PubMed

Di Fonzo, Alessio; Monfrini, Edoardo; Erro, Roberto

2018-05-23

This review aims to provide the basic knowledge on the genetics of hypokinetic and hyperkinetic movement disorders to guide clinicians in the decision of "who and what to test for?" In recent years, the identification of various genetic causes of hypokinetic and hyperkinetic movement disorders has had a great impact on a better definition of different clinical syndromes. Indeed, the advent of next-generation sequencing (NGS) techniques has provided an impressive step forward in the easy identification of genetic forms. However, this increased availability of genetic testing has challenges, including the ethical issue of genetic testing in unaffected family members, "commercially" available home testing kits and the increasing number and relevance of "variants of unknown significance." The emergent role of genetic factors has important implications on clinical practice and counseling. As a consequence, it is fundamental that practicing neurologists have a proper knowledge of the genetic background of the diseases and perform an accurate selection of who has to be tested and for which gene mutations.

Upper limb movement analysis during gait in multiple sclerosis patients.

PubMed

Elsworth-Edelsten, Charlotte; Bonnefoy-Mazure, Alice; Laidet, Magali; Armand, Stephane; Assal, Frederic; Lalive, Patrice; Allali, Gilles

2017-08-01

Gait disorders in multiple sclerosis (MS) are well studied; however, no previous study has described upper limb movements during gait. However, upper limb movements have an important role during locomotion and can be altered in MS patients due to direct MS lesions or mechanisms of compensation. The aim of this study was to describe the arm movements during gait in a population of MS patients with low disability compared with a healthy control group. In this observational study we analyzed the arm movements during gait in 52 outpatients (mean age: 39.7±9.6years, female: 40%) with relapsing-remitting MS with low disability (mean EDSS: 2±1) and 25 healthy age-matched controls using a 3-dimension gait analysis. MS patients walked slower, with increased mean elbow flexion and decreased amplitude of elbow flexion (ROM) compared to the control group, whereas shoulder and hand movements were similar to controls. These differences were not explained by age or disability. Upper limb alterations in movement during gait in MS patients with low disability can be characterized by an increase in mean elbow flexion and a decrease in amplitude (ROM) for elbow flexion/extension. This upper limb movement pattern should be considered as a new component of gait disorders in MS and may reflect subtle motor deficits or the use of compensatory mechanisms. Copyright © 2017 Elsevier B.V. All rights reserved.

Striatonigral Degeneration

MedlinePlus

... NINDS Focus on Disorders Alzheimer's & Related Dementias Epilepsy Parkinson's Disease Spinal Cord Injury Traumatic Brain Injury Focus On ... the disorder resemble some of those seen in Parkinson's disease, including rigidity, instability, impaired speech, and slow movements. × ...

Overview of Movement Disorders

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An Update on Tardive Dyskinesia: From Phenomenology to Treatment

PubMed Central

Waln, Olga; Jankovic, Joseph

2013-01-01

Tardive dyskinesia (TD), characterized by oro-buccal-lingual stereotypy, can manifest in the form of akathisia, dystonia, tics, tremor, chorea, or as a combination of different types of abnormal movements. In addition to movement disorders (including involuntary vocalizations), patients with TD may have a variety of sensory symptoms, such as urge to move (as in akathisia), paresthesias, and pain. TD is a form of tardive syndrome—a group of iatrogenic hyperkinetic and hypokinetic movement disorders caused by dopamine receptor-blocking agents. The pathophysiology of TD remains poorly understood, and treatment of this condition is often challenging. In this update, we provide the most current information on the history, nomenclature, etiology, pathophysiology, epidemiology, phenomenology, differential diagnosis, and treatment of TD. PMID:23858394

Kinematic performance of fine motor control in attention-deficit/hyperactivity disorder: the effects of comorbid developmental coordination disorder and core symptoms.

PubMed

Lee, I-Ching; Chen, Yung-Jung; Tsai, Chin-Liang

2013-02-01

The aims of this study were: (i) to determine whether differences exist in the fine motor fluency and flexibility of three groups (children with attention-deficit/hyperactivity disorder [ADHD], children in whom ADHD is comorbid with developmental coordination disorder [DCD] [denoted as ADHD+DCD], and a typically developing control group); and (ii) to clarify whether the degree of severity of core symptoms affects performance. The Peabody Picture Vocabulary Test-Revised, the Beery-Buktenica Development Test of Visual-Motor Integration and the Movement Assessment Battery for Children were used as prescreening tests. The Integrated Visual and Auditory+Plus test was utilized to assess subjects' attention. The redesigned fine motor tracking and pursuit tasks were administered to evaluate subjects' fine motor performance. No significant difference was found when comparing the performance of the Children with ADHD and the typically developing group. Significant differences existed between children in whom ADHD is comorbid with DCD and typically developing children. Children with ADHD demonstrated proper fine motor fluency and flexibility, and deficient performance occurred when ADHD was comorbid with developmental coordination disorder. Children with ADHD had more difficulty implementing closed-loop movements that required higher levels of cognitive processing than those of their typically developing peers. Also, deficits in fine motor control were more pronounced when ADHD was combined with movement coordination problems. The severity of core symptoms had a greater effect on children with ADHD's fine motor flexibility than did fluency performance. In children with pure ADHD, unsmooth movement performance was highly related to the severity of core symptoms. © 2012 The Authors. Pediatrics International © 2012 Japan Pediatric Society.

The Effectiveness of Transcranial Brain Stimulation in Improving Clinical Signs of Hyperkinetic Movement Disorders.

PubMed

Obeso, Ignacio; Cerasa, Antonio; Quattrone, Aldo

2015-01-01

Repetitive transcranial magnetic stimulation (rTMS) is a safe and painless method for stimulating cortical neurons. In neurological realm, rTMS has prevalently been applied to understand pathophysiological mechanisms underlying movement disorders. However, this tool has also the potential to be translated into a clinically applicable therapeutic use. Several available studies supported this hypothesis, but differences in protocols, clinical enrollment, and variability of rTMS effects across individuals complicate better understanding of efficient clinical protocols. The aim of this present review is to discuss to what extent the evidence provided by the therapeutic use of rTMS may be generalized. In particular, we attempted to define optimal cortical regions and stimulation protocols that have been demonstrated to maximize the effectiveness seen in the actual literature for the three most prevalent hyperkinetic movement disorders: Parkinson's disease (PD) with levodopa-induced dyskinesias (LIDs), essential tremor (ET) and dystonia. A total of 28 rTMS studies met our search criteria. Despite clinical and methodological differences, overall these studies demonstrated that therapeutic applications of rTMS to "normalize" pathologically decreased or increased levels of cortical activity have given moderate progress in patient's quality of life. Moreover, the present literature suggests that altered pathophysiology in hyperkinetic movement disorders establishes motor, premotor or cerebellar structures as candidate regions to reset cortico-subcortical pathways back to normal. Although rTMS has the potential to become a powerful tool for ameliorating the clinical outcome of hyperkinetic neurological patients, until now there is not a clear consensus on optimal protocols for these motor disorders. Well-controlled multicenter randomized clinical trials with high numbers of patients are urgently required.

ADCY5-related dyskinesia

PubMed Central

Chen, Dong-Hui; Méneret, Aurélie; Friedman, Jennifer R.; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S.; Stessman, Holly A.; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y.; Damon-Perrière, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki M.; Mackenzie, Katherine M.; Swanson, Phillip D.; Tranchant, Christine; Vidailhet, Marie; Winesett, Steven; Trouillard, Oriane; Amendola, Laura M.; Dorschner, Michael O.; Weiss, Michael; Eichler, Evan E.; Torkamani, Ali; Roze, Emmanuel

2015-01-01

Objective: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)–related dyskinesia and genotype–phenotype relationship. Methods: We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was confirmed by allele-specific amplification. We evaluated clinical features in our 50 new and previously reported cases. Results: We identified 3 new families and 12 new sporadic cases with ADCY5 mutations. These mutations cause a mixed hyperkinetic disorder that includes dystonia, chorea, and myoclonus, often with facial involvement. The movements are sometimes painful and show episodic worsening on a fluctuating background. Many patients have axial hypotonia. In 2 unrelated families, a p.A726T mutation in the first cytoplasmic domain (C1) causes a relatively mild disorder of prominent facial and hand dystonia and chorea. Mutations p.R418W or p.R418Q in C1, de novo in 13 individuals and inherited in 1, produce a moderate to severe disorder with axial hypotonia, limb hypertonia, paroxysmal nocturnal or diurnal dyskinesia, chorea, myoclonus, and intermittent facial dyskinesia. Somatic mosaicism is usually associated with a less severe phenotype. In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. The progenitor, whose childhood-onset episodic movement disorder almost disappeared in adulthood, was mosaic for the mutation. Conclusions: ADCY5-related dyskinesia is a childhood-onset disorder with a wide range of hyperkinetic abnormal movements. Genotype-specific correlations and mosaicism play important roles in the phenotypic variability. Recurrent mutations suggest particular functional importance of residues 418 and 726 in disease pathogenesis. PMID:26537056

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

PubMed

Chen, Dong-Hui; Méneret, Aurélie; Friedman, Jennifer R; Korvatska, Olena; Gad, Alona; Bonkowski, Emily S; Stessman, Holly A; Doummar, Diane; Mignot, Cyril; Anheim, Mathieu; Bernes, Saunder; Davis, Marie Y; Damon-Perrière, Nathalie; Degos, Bertrand; Grabli, David; Gras, Domitille; Hisama, Fuki M; Mackenzie, Katherine M; Swanson, Phillip D; Tranchant, Christine; Vidailhet, Marie; Winesett, Steven; Trouillard, Oriane; Amendola, Laura M; Dorschner, Michael O; Weiss, Michael; Eichler, Evan E; Torkamani, Ali; Roze, Emmanuel; Bird, Thomas D; Raskind, Wendy H

2015-12-08

To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia and genotype-phenotype relationship. We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was confirmed by allele-specific amplification. We evaluated clinical features in our 50 new and previously reported cases. We identified 3 new families and 12 new sporadic cases with ADCY5 mutations. These mutations cause a mixed hyperkinetic disorder that includes dystonia, chorea, and myoclonus, often with facial involvement. The movements are sometimes painful and show episodic worsening on a fluctuating background. Many patients have axial hypotonia. In 2 unrelated families, a p.A726T mutation in the first cytoplasmic domain (C1) causes a relatively mild disorder of prominent facial and hand dystonia and chorea. Mutations p.R418W or p.R418Q in C1, de novo in 13 individuals and inherited in 1, produce a moderate to severe disorder with axial hypotonia, limb hypertonia, paroxysmal nocturnal or diurnal dyskinesia, chorea, myoclonus, and intermittent facial dyskinesia. Somatic mosaicism is usually associated with a less severe phenotype. In one family, a p.M1029K mutation in the C2 domain causes severe dystonia, hypotonia, and chorea. The progenitor, whose childhood-onset episodic movement disorder almost disappeared in adulthood, was mosaic for the mutation. ADCY5-related dyskinesia is a childhood-onset disorder with a wide range of hyperkinetic abnormal movements. Genotype-specific correlations and mosaicism play important roles in the phenotypic variability. Recurrent mutations suggest particular functional importance of residues 418 and 726 in disease pathogenesis. © 2015 American Academy of Neurology.

Irregular head movement patterns in whiplash patients during a trajectory task.

PubMed

Woodhouse, Astrid; Stavdahl, Øyvind; Vasseljen, Ottar

2010-03-01

Patients with whiplash associated disorders (WAD) have shown less accuracy in trajectory head motion compared to asymptomatic controls, which comply with clinical observations. The aim of this study was to investigate whether a trajectory head movement task can differ between WAD patients, chronic non-traumatic neck pain (CNP) patients and asymptomatic controls. Study groups included subjects with WAD (n = 35) with persistent neck pain after a car accident, CNP (n = 45), and asymptomatic controls (n = 48). Head motion was recorded from an unsupported standing position using a 3D Fastrak device. A laser pointer was attached to the head and by moving the head the subjects were asked to trace a figure of eight displayed on the wall at three different paces (slow, moderate and fast). The motion signal was decomposed into 1 Hz frequency bands and angular velocity (deg/s) within each frequency band was calculated. Significantly higher angular RMS velocity was found in the WAD group compared to the two other groups for the slow paced test (3-4 and 4-5 Hz frequency bands) and the moderate paced test (3-4 Hz frequency band) indicating irregular and uncoordinated movements. Angular RMS velocity was associated with pain and dizziness, but only with severe symptom levels. In conclusion, irregular head movements during a complex task were found in the WAD group, indicating altered central sensorimotor processing. The irregularities were found within frequency levels observable to clinicians.

Deep brain stimulation for movement disorders. Considerations on 276 consecutive patients.

PubMed

Franzini, Angelo; Cordella, Roberto; Messina, Giuseppe; Marras, Carlo Efisio; Romito, Luigi Michele; Carella, Francesco; Albanese, Alberto; Rizzi, Michele; Nardocci, Nardo; Zorzi, Giovanna; Zekay, Edvin; Broggi, Giovanni

2011-10-01

The links between Stn DBS and advanced Parkinson disease, and between GPi DBS and dystonia are nearly universally accepted by the neurologists and neurosurgeons. Nevertheless, in some conditions, targets such as the ventral thalamus and the Zona Incerta may be considered to optimize the results and avoid the side effects. Positive and negative aspects of current DBS treatments justify the research of new targets, new stimulation programs and new hardware. Since 1993, at the Istituto Nazionale Neurologico "Carlo Besta" in Milan, 580 deep brain electrodes were implanted in 332 patients. 276 patients were affected by movement disorders. The DBS targets included Stn, GPi, Voa, Vop, Vim, CM-pf, cZi, IC. The long-term follow-up is reported and related to the chosen target. DBS gave a new therapeutic option to patients affected by severe movement disorders, and in some cases resolved life-threatening pathological conditions that would otherwise result in the death of the patient, such as in status dystonicus, and post-stroke hemiballismus. Nevertheless, the potential occurrence of severe complications still limit a wider use of DBS. At today, the use of DBS in severe movement disorders is strongly positive even if further investigations and studies are needed to unveil potential new applications, and to refine the selection criteria for the actual indications and targets. The experience of different targets may be useful to guide and tailor the target choice to the individual clinical condition.

Case report of a patient with 'one-and-a-half plus syndrome: nine syndrome'.

PubMed

Uthman, Muhammad; Kamran, Mehreen

2018-01-01

This case talks about 'One-and-a-half plus syndrome', a clinical syndrome affecting binocular vision and facial nerve. One-and-a-half plus syndrome is a less known clinical syndrome which constitutes of a conjugate horizontal gaze palsy in one direction and an internuclear ophthalmoplegia in the other direction. Despite the known association between ischemia, autoimmune disorders, multiple sclerosis, with mono neuritis multiplex resulting in extra ocular movement disorder, one-and-a-half plus syndrome is rarely considered in the differential diagnosis of eye ball movement disorders, as many clinicians are not able to diagnose such a case as ' the eyes don't see what the mind doesn't know'. Our report aims to raise awareness about connective tissue disorders presenting as neuro-ophthalmological syndrome, as early recognition can accelerate diagnosis and decrease the morbidity.

[Excessive daytime sleepiness].

PubMed

Bittencourt, Lia Rita Azeredo; Silva, Rogério Santos; Santos, Ruth Ferreira; Pires, Maria Laura Nogueira; Mello, Marco Túlio de

2005-05-01

Sleepiness is a physiological function, and can be defined as increased propension to fall asleep. However, excessive sleepiness (ES) or hypersomnia refer to an abnormal increase in the probability to fall asleep, to take involuntary naps, or to have sleep atacks, when sleep is not desired. The main causes of excessive sleepiness is chronic sleep deprivation, sleep apnea syndrome, narcolepsy, movement disorders during sleep, circadian sleep disorders, use of drugs and medications, or idiopathic hypersomnia. Social, familial, work, and cognitive impairment are among the consequences of hypersomnia. Moreover, it has also been reported increased risk of accidents. The treatment of excessive sleepiness includes treating the primary cause, whenever identified. Sleep hygiene for sleep deprivation, positive pressure (CPAP) for sleep apnea, dopaminergic agents and exercises for sleep-related movement disorders, phototherapy and/or melatonin for circadian disorders, and use of stimulants are the treatment modalities of first choice.

Active site and loop 4 movements within human glycolate oxidase: implications for substrate specificity and drug design.

PubMed

Murray, Michael S; Holmes, Ross P; Lowther, W Todd

2008-02-26

Human glycolate oxidase (GO) catalyzes the FMN-dependent oxidation of glycolate to glyoxylate and glyoxylate to oxalate, a key metabolite in kidney stone formation. We report herein the structures of recombinant GO complexed with sulfate, glyoxylate, and an inhibitor, 4-carboxy-5-dodecylsulfanyl-1,2,3-triazole (CDST), determined by X-ray crystallography. In contrast to most alpha-hydroxy acid oxidases including spinach glycolate oxidase, a loop region, known as loop 4, is completely visible when the GO active site contains a small ligand. The lack of electron density for this loop in the GO-CDST complex, which mimics a large substrate, suggests that a disordered to ordered transition may occur with the binding of substrates. The conformational flexibility of Trp110 appears to be responsible for enabling GO to react with alpha-hydroxy acids of various chain lengths. Moreover, the movement of Trp110 disrupts a hydrogen-bonding network between Trp110, Leu191, Tyr134, and Tyr208. This loss of interactions is the first indication that active site movements are directly linked to changes in the conformation of loop 4. The kinetic parameters for the oxidation of glycolate, glyoxylate, and 2-hydroxy octanoate indicate that the oxidation of glycolate to glyoxylate is the primary reaction catalyzed by GO, while the oxidation of glyoxylate to oxalate is most likely not relevant under normal conditions. However, drugs that exploit the unique structural features of GO may ultimately prove to be useful for decreasing glycolate and glyoxylate levels in primary hyperoxaluria type 1 patients who have the inability to convert peroxisomal glyoxylate to glycine.

Diagnosis and treatment of impulse control disorders in patients with movement disorders

PubMed Central

Mestre, Tiago A.; Strafella, Antonio P.; Thomsen, Teri; Voon, Valerie

2013-01-01

Impulse control disorders are a psychiatric condition characterized by the failure to resist an impulsive act or behavior that may be harmful to self or others. In movement disorders, impulse control disorders are associated with dopaminergic treatment, notably dopamine agonists (DAs). Impulse control disorders have been studied extensively in Parkinson’s disease, but are also recognized in restless leg syndrome and atypical Parkinsonian syndromes. Epidemiological studies suggest younger age, male sex, greater novelty seeking, impulsivity, depression and premorbid impulse control disorders as the most consistent risk factors. Such patients may warrant special monitoring after starting treatment with a DA. Various individual screening tools are available for people without Parkinson’s disease. The Questionnaire for Impulsive-Compulsive Disorders in Parkinson’s Disease has been developed specifically for Parkinson’s disease. The best treatment for impulse control disorders is prevention. However, after the development of impulse control disorders, the mainstay intervention is to reduce or discontinue the offending anti-Parkinsonian medication. In refractory cases, other pharmacological interventions are available, including neuroleptics, antiepileptics, amantadine, antiandrogens, lithium and opioid antagonists. Unfortunately, their use is only supported by case reports, small case series or open-label clinical studies. Prospective, controlled studies are warranted. Ongoing investigations include naltrexone and nicotine. PMID:23634190

Avoiding cumulative trauma disorders in shops and offices.

PubMed

Kroemer, K H

1992-09-01

Cumulative trauma disorders have been medically described for about 100 yr and have been related to physical activities for nearly 300 yr. Yet, avoiding these disorders in the shop and office is becoming of urgent concern only now, particularly because of the Occupational Safety and Health Administration's (OSHA's) investigation and enforcement program. Such disorders occur most often in soft tissues of the body, particularly at tendons and their sheaths. They may irritate or damage nerves and impede blood flow. They are frequent in the hand/wrist/forearm area; for example, in the carpal tunnel and in the shoulder and neck. Although controversy exists, occupational and leisure activities are generally believed to cause or aggravate cumulative trauma disorders. The major activity-related factors are rapid repetitive movements, forceful movements, static muscle loading, inappropriate body postures, vibrations, and cold. Yet, the quantitative thresholds above which cumulative trauma disorders are expected to occur are largely unknown and need to be researched. Furthermore, certain health conditions may make individuals predisposed to cumulative disorders. For most cumulative trauma disorders, physical activities and job procedures can be identified that are related to the occurrence of cumulative trauma disorders. This allows the establishment of generic and specific recommendations for the avoidance of conditions that may lead to cumulative trauma disorders in the workshop or the office.

Animal models of tic disorders: A translational perspective

PubMed Central

Godar, Sean C.; Mosher, Laura J.; Di Giovanni, Giuseppe; Bortolato, Marco

2014-01-01

Tics are repetitive, sudden movements and/or vocalizations, typically enacted as maladaptive responses to intrusive premonitory urges. The most severe tic disorder, Tourette syndrome (TS), is a childhood-onset condition featuring multiple motor and at least one phonic tic for a duration longer than 1 year. The pharmacological treatment of TS is mainly based on antipsychotic agents; while these drugs are often effective in reducing tic severity and frequency, their therapeutic compliance is limited by serious motor and cognitive side effects. The identification of novel therapeutic targets and development of better treatments for tic disorders is conditional on the development of animal models with high translational validity. In addition, these experimental tools can prove extremely useful to test hypotheses on the etiology and neurobiological bases of TS and related conditions. In recent years, the translational value of these animal models has been enhanced, thanks to a significant re-organization of our conceptual framework of neuropsychiatric disorders, with a greater focus on endophenotypes and quantitative indices, rather than qualitative descriptors. Given the complex and multifactorial nature of TS and other tic disorders, the selection of animal models that can appropriately capture specific symptomatic aspects of these conditions can pose significant theoretical and methodological challenges. In this article, we will review the state of the art on the available animal models of tic disorders, based on genetic mutations, environmental interventions as well as pharmacological manipulations. Furthermore, we will outline emerging lines of translational research showing how some of these experimental preparations have led to significant progress in the identification of novel therapeutic targets for tic disorders. PMID:25244952

On the complexity of classical guitar playing: functional adaptations to task constraints.

PubMed

Heijink, Hank; Meulenbroek, Ruud G J

2002-12-01

The authors performed a behavioral study of the complexity of left-hand finger movements in classical guitar playing. Six professional guitarists played movement sequences in a fixed tempo. Left-hand finger movements were recorded in 3 dimensions, and the guitar sound was recorded synchronously. Assuming that performers prefer to avoid extreme joint angles when moving, the authors hypothesized 3 complexity factors. The results showed differential effects of the complexity factors on the performance measures and on participants' judgments of complexity. The results demonstrated that keeping the joints in the middle of their range is an important principle in guitar playing, and players exploit the available tolerance in timing and placement of the left-hand fingers to control the acoustic output variability.

Visual dysfunction in Parkinson’s disease

PubMed Central

Weil, Rimona S.; Schrag, Anette E.; Warren, Jason D.; Crutch, Sebastian J.; Lees, Andrew J.; Morris, Huw R.

2016-01-01

Patients with Parkinson’s disease have a number of specific visual disturbances. These include changes in colour vision and contrast sensitivity and difficulties with complex visual tasks such as mental rotation and emotion recognition. We review changes in visual function at each stage of visual processing from retinal deficits, including contrast sensitivity and colour vision deficits to higher cortical processing impairments such as object and motion processing and neglect. We consider changes in visual function in patients with common Parkinson’s disease-associated genetic mutations including GBA and LRRK2. We discuss the association between visual deficits and clinical features of Parkinson’s disease such as rapid eye movement sleep behavioural disorder and the postural instability and gait disorder phenotype. We review the link between abnormal visual function and visual hallucinations, considering current models for mechanisms of visual hallucinations. Finally, we discuss the role of visuo-perceptual testing as a biomarker of disease and predictor of dementia in Parkinson’s disease. PMID:27412389

No Cases of PANDAS on Follow-Up of Patients Referred to a Pediatric Movement Disorders Clinic.

PubMed

Kilbertus, Sarah; Brannan, Renee; Sell, Erick; Doja, Asif

2014-01-01

Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) remains a controversial diagnosis and it is unclear how frequently it is encountered in clinical practice. Our study aimed to determine how many children with acute-onset tics and/or Obsessive-Compulsive Disorder (OCD) met criteria for PANDAS. A retrospective review was performed on 39 children who presented to a movement disorders clinic with acute-onset tics or OCD from 2005 to 2012. Out of 284 patients seen over the course of 7 years, only 39 had acute-onset tics and/or OCD symptoms. None of the 39 children who presented to us acutely met full criteria for PANDAS. Thirty-eight percent had no association between their symptoms and group A beta-hemolytic streptococcal infection, while 54% had prior inconclusive laboratory testing done and no exacerbations during the course of the study. Only 8% of patients had an acute exacerbation after their initial visit; however, testing for GAHBS in these patients was negative Discussion: Our results support the notion that PANDAS, if it exists, is an exceedingly rare diagnosis encountered in a pediatric movement disorder clinic. While none of our patients met criteria for PANDAS, two with acute-onset OCD would have met criteria for pediatric acute-onset neuropsychiatric syndrome (PANS) indicating that PANS may be a more appropriate diagnosis.

Biotensegrity and myofascial chains: A global approach to an integrated kinetic chain.

PubMed

Dischiavi, S L; Wright, A A; Hegedus, E J; Bleakley, C M

2018-01-01

Human movement is a complex orchestration of events involving many different body systems. Understanding how these systems interact during musculoskeletal movements can directly inform a variety of research fields including: injury etiology, injury prevention and therapeutic exercise prescription. Traditionally scientists have examined human movement through a reductionist lens whereby movements are broken down and observed in isolation. The process of reductionism fails to capture the interconnected complexities and the dynamic interactions found within complex systems such as human movement. An emerging idea is that human movement may be better understood using a holistic philosophy. In this regard, the properties of a given system cannot be determined or explained by its components alone, rather, it is the complexity of the system as a whole, that determines how the individual component parts behave. This paper hypothesizes that human movement can be better understood through holism; and provides available observational evidence in musculoskeletal science, which help to frame human movement as a globally interconnected complex system. Central to this, is biotensegrity, a concept where the bones of the skeletal system are postulated to be held together by the resting muscle tone of numerous viscoelastic muscular chains in a tension dependent manner. The design of a biotensegrity system suggests that when human movement occurs, the entire musculoskeletal system constantly adjusts during this movement causing global patterns to occur. This idea further supported by recent anatomical evidence suggesting that the muscles of the human body can no longer by viewed as independent anatomical structures that simply connect one bone to another bone. Rather, the body consists of numerous muscles connected in series, and end to end, which span the entire musculoskeletal system, creating long polyarticular viscoelastic myofascial muscle chains. Although theoretical, the concept of the human body being connected by these muscular chains, within a biotensegrity design, could be a potential underpinning theory for analyzing human movement in a more holistic manner. Indeed, preliminary research has now used the concept of myofascial pathways to enhance musculoskeletal examination, and provides a vivid example of how range of motion at a peripheral joint, is dependent upon the positioning of the entire body, offering supportive evidence that the body's kinetic chain is globally interconnected. Theoretical models that introduce a complex systems approach should be welcomed by the movement science field in an attempt to help explain clinical questions that have been resistant to a linear model. Copyright © 2017 Elsevier Ltd. All rights reserved.

An extensible simulation environment and movement metrics for testing walking behavior in agent-based models

DOE Office of Scientific and Technical Information (OSTI.GOV)

Paul M. Torrens; Atsushi Nara; Xun Li

2012-01-01

Human movement is a significant ingredient of many social, environmental, and technical systems, yet the importance of movement is often discounted in considering systems complexity. Movement is commonly abstracted in agent-based modeling (which is perhaps the methodological vehicle for modeling complex systems), despite the influence of movement upon information exchange and adaptation in a system. In particular, agent-based models of urban pedestrians often treat movement in proxy form at the expense of faithfully treating movement behavior with realistic agency. There exists little consensus about which method is appropriate for representing movement in agent-based schemes. In this paper, we examine popularly-usedmore » methods to drive movement in agent-based models, first by introducing a methodology that can flexibly handle many representations of movement at many different scales and second, introducing a suite of tools to benchmark agent movement between models and against real-world trajectory data. We find that most popular movement schemes do a relatively poor job of representing movement, but that some schemes may well be 'good enough' for some applications. We also discuss potential avenues for improving the representation of movement in agent-based frameworks.« less

Dissociation between facial and bodily expressions in emotion recognition: A case study.

PubMed

Leiva, Samanta; Margulis, Laura; Micciulli, Andrea; Ferreres, Aldo

2017-12-21

Existing single-case studies have reported deficit in recognizing basic emotions through facial expression and unaffected performance with body expressions, but not the opposite pattern. The aim of this paper is to present a case study with impaired emotion recognition through body expressions and intact performance with facial expressions. In this single-case study we assessed a 30-year-old patient with autism spectrum disorder, without intellectual disability, and a healthy control group (n = 30) with four tasks of basic and complex emotion recognition through face and body movements, and two non-emotional control tasks. To analyze the dissociation between facial and body expressions, we used Crawford and Garthwaite's operational criteria, and we compared the patient and the control group performance with a modified one-tailed t-test designed specifically for single-case studies. There were no statistically significant differences between the patient's and the control group's performances on the non-emotional body movement task or the facial perception task. For both kinds of emotions (basic and complex) when the patient's performance was compared to the control group's, statistically significant differences were only observed for the recognition of body expressions. There were no significant differences between the patient's and the control group's correct answers for emotional facial stimuli. Our results showed a profile of impaired emotion recognition through body expressions and intact performance with facial expressions. This is the first case study that describes the existence of this kind of dissociation pattern between facial and body expressions of basic and complex emotions.

Predictability and Robustness in the Manipulation of Dynamically Complex Objects

PubMed Central

Hasson, Christopher J.

2017-01-01

Manipulation of complex objects and tools is a hallmark of many activities of daily living, but how the human neuromotor control system interacts with such objects is not well understood. Even the seemingly simple task of transporting a cup of coffee without spilling creates complex interaction forces that humans need to compensate for. Predicting the behavior of an underactuated object with nonlinear fluid dynamics based on an internal model appears daunting. Hence, this research tests the hypothesis that humans learn strategies that make interactions predictable and robust to inaccuracies in neural representations of object dynamics. The task of moving a cup of coffee is modeled with a cart-and-pendulum system that is rendered in a virtual environment, where subjects interact with a virtual cup with a rolling ball inside using a robotic manipulandum. To gain insight into human control strategies, we operationalize predictability and robustness to permit quantitative theory-based assessment. Predictability is quantified by the mutual information between the applied force and the object dynamics; robustness is quantified by the energy margin away from failure. Three studies are reviewed that show how with practice subjects develop movement strategies that are predictable and robust. Alternative criteria, common for free movement, such as maximization of smoothness and minimization of force, do not account for the observed data. As manual dexterity is compromised in many individuals with neurological disorders, the experimental paradigm and its analyses are a promising platform to gain insights into neurological diseases, such as dystonia and multiple sclerosis, as well as healthy aging. PMID:28035560

The effect of muscle fatigue and low back pain on lumbar movement variability and complexity.

PubMed

Bauer, C M; Rast, F M; Ernst, M J; Meichtry, A; Kool, J; Rissanen, S M; Suni, J H; Kankaanpää, M

2017-04-01

Changes in movement variability and complexity may reflect an adaptation strategy to fatigue. One unresolved question is whether this adaptation is hampered by the presence of low back pain (LBP). This study investigated if changes in movement variability and complexity after fatigue are influenced by the presence of LBP. It is hypothesised that pain free people and people suffering from LBP differ in their response to fatigue. The effect of an isometric endurance test on lumbar movement was tested in 27 pain free participants and 59 participants suffering from LBP. Movement variability and complexity were quantified with %determinism and sample entropy of lumbar angular displacement and velocity. Generalized linear models were fitted for each outcome. Bayesian estimation of the group-fatigue effect with 95% highest posterior density intervals (95%HPDI) was performed. After fatiguing %determinism decreased and sample entropy increased in the pain free group, compared to the LBP group. The corresponding group-fatigue effects were 3.7 (95%HPDI: 2.3-7.1) and -1.4 (95%HPDI: -2.7 to -0.1). These effects manifested in angular velocity, but not in angular displacement. The effects indicate that pain free participants showed more complex and less predictable lumbar movement with a lower degree of structure in its variability following fatigue while participants suffering from LBP did not. This may be physiological responses to avoid overload of fatigued tissue, increase endurance, or a consequence of reduced movement control caused by fatigue. Copyright © 2017 Elsevier Ltd. All rights reserved.