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Hereditary Spastic Paraplegia  


... What is Hereditary Spastic Paraplegia? Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to ... typically slowly progress so that eventually individuals with HSP may require the assistance of a cane, walker, ...


Genetics Home Reference: Spastic paraplegia type 2  


... OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 2 On this page: Description Genetic changes Inheritance Diagnosis ... Reviewed March 2008 What is spastic paraplegia type 2? Spastic paraplegia type 2 is part of a ...


Paraplegia following oesophagectomy  

PubMed Central

We report a rare case of postoperative paraplegia in a patient with carcinoma of the oesophagus following oesophagectomy. Neurological deficit was characterised by loss of sensation from the spinal level T2 down to T6, together with flaccid paraparesis of both lower extremities. This was initially thought to be secondary to an epidural haematoma and a magnetic resonance scan was arranged. This suggested changes consistent with spinal cord infarction from D2 to D6 with no haematoma or abscess. This severe complication was most probably caused by embolisation from an atherosclerotic plaque of the thoracic aorta, as the nature of the surgery requires aortic manipulation. This may have consequently led to occlusion of a significant part of the spinal blood supply. Even though anterior spinal artery syndrome is a well known problem in the operative management of thoracic aortic aneurysms, this complication is extremely rare after oesophagectomy.

Shahi, Navneel; Asante-Siaw, Julius; Marzouk, Joseph F K



Genetics Home Reference: Spastic paraplegia type 11  


... the left and right halves of the brain (corpus callosum) is abnormally thin. People with this form of ... 11? autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia with mental impairment and ...


Pott's spine and paraplegia.  


Spinal tuberculosis is usually secondary to lung or abdominal involvement and may also be the first manifestation of tuberculosis. Spinal tuberculosis (often called Pott's disease) is by definition, an advanced disease, requiring meticulous assessment and aggressive systemic therapy. Physicians should keep the diagnosis in mind, especially in a patient from a group with a high rate of tuberculosis infection. This review aims on updating the knowledge on spinal tuberculosis and its management. Skeletal involvement has been reported to occur in approximately 10% of all patents with extrapulmonary tuberculosis, and half of these patients develop infection within the spinal column. Symptoms of spinal tuberculosis are back pain, weakness, weight loss, fever, fatigue, and malaise. It is much more prone to develop neurological manifestation, paraplegia of varying degree. The palpation of spinous process in routine clinical examination is the most rewarding clinical method and is an invaluable measure for early recognition. Diagnosis of spinal tuberculosis is made on the basis of typical clinical presentation along with systemic constitutional manifestation and the evidence of past exposure to tuberculosis or concomitant visceral tuberculosis. Magnetic resonance imaging can define the extent of abscess formation and spinal cord compression. The diagnosis is confirmed through percutaneous or open biopsy of the spinal lesion. Surgery is necessary as an adjunct to antibiotic therapy if the vertebral infection produces an abscess, vertebral collapse, or neurologic compression. Some patents need aggressive supportive care owing to tuberculous meningitis or encephalopathy. Moreover, the importance of immediate commencement of appropriate treatment and its continuation for adequate duration along with the proper counseling of the patient and family members should not be underestimated for successful and desired outcome. PMID:16570378

Gautam, M P; Karki, P; Rijal, S; Singh, R


Spinal Arteriovenous Epidural Fistula with Acute Paraplegia  

PubMed Central

Summary We report a case of a 68-year-old woman with an acute paraplegia due to venous congestion of the spinal cord caused by an exclusive epidural arteriovenous fistula. Diagnosed by MRI and selective spinal angiography the fistula was embolized during emergency treatment via transarterial access. Immediately after the intervention the paraplegia declined and the patient recovered completely. Epidural AV fistulae are a very rare and therefore relatively unknown cause of vascular myelopathy. They may require emergency management to avoid permanent neurological deficits.

Reul, J.; Braun, V.



Pain after paraplegia: a survey in India  

Microsoft Academic Search

Study design:A postal survey.Objective:To ascertain the incidence of pain in individuals with paraplegia in India and to associate it with demographic characteristics.Setting:India.Method:The study was done by means of a questionnaire. This questionnaire was mailed to the identified individuals (n=600) on the addresses obtained from the medical records section of hospitals and from various organizations. Data analysis was done by using

N Gupta; J Solomon; K Raja



Paraplegia caused by spinal infection after acupuncture  

Microsoft Academic Search

Study design:Case report of a 64-year-old man with psoas abscesses, epidural abscess and spondylitis after acupuncture.Objective:To report a case of paraplegia caused by spinal infection after acupuncture.Setting:Seoul, Korea.Case report:A 64-year-old man came to an emergency room because of severe back pain. At 3 days prior to visit, the patient received acupuncture therapy to the low back with a needle about

M S Bang; S H Lim; Bang



Walking dreams in congenital and acquired paraplegia.  


To test if dreams contain remote or never-experienced motor skills, we collected during 6 weeks dream reports from 15 paraplegics and 15 healthy subjects. In 9/10 subjects with spinal cord injury and in 5/5 with congenital paraplegia, voluntary leg movements were reported during dream, including feelings of walking (46%), running (8.6%), dancing (8%), standing up (6.3%), bicycling (6.3%), and practicing sports (skiing, playing basketball, swimming). Paraplegia patients experienced walking dreams (38.2%) just as often as controls (28.7%). There was no correlation between the frequency of walking dreams and the duration of paraplegia. In contrast, patients were rarely paraplegic in dreams. Subjects who had never walked or stopped walking 4-64 years prior to this study still experience walking in their dreams, suggesting that a cerebral walking program, either genetic or more probably developed via mirror neurons (activated when observing others performing an action) is reactivated during sleep. PMID:21704532

Saurat, Marie-Thérèse; Agbakou, Maité; Attigui, Patricia; Golmard, Jean-Louis; Arnulf, Isabelle



Genetics Home Reference: Spastic paraplegia type 3A  


... Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 3A On this ... type 3A is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...


Paraplegia due to Spinal Cord Infarction After Lifting Heavy Objects  

PubMed Central

Spinal cord infarction is uncommon and usually presents with sudden onset of motor and sensory disturbances. We report a case of a 64-year-old women without previous medical history, who presented with acute onset of paraplegia after lifting. However, radiologic examinations did not show any abnormal lesion in the spinal cord. And, cerebrospinal fluid studies also showed no remarkable findings. This case illustrates the cause of spontaneous paraplegia after lifting injury and we consider the presumptive cause of paraplegia as spinal cord infarction.

Lee, Sung-Ho; Choi, Seok-Geun; Lim, Young-Jin



Paraplegia: a postal survey of morbidity trends in India  

Microsoft Academic Search

Study design:Postal survey from August 2004 to May 2006.Objective:To ascertain the morbidity trends in individuals with paraplegia in India and to find its association with demographic characteristics.Settings:India.Methods:The questionnaire was mailed to the identified individuals (n=600) whose addresses were obtained from the medical records section of our hospital and by contacting non-government organizations (NGOs), working for individuals with paraplegia in various

N Gupta; J Solomon; K Raja



Paraplegia due to Spinal Epidermoid Cyst Rupture at Asthma Attack  

PubMed Central

Spinal epidermoid cyst is less than 1% of the entire spinal cord tumor and a rare tumor. It is a slowly proliferating benign tumor and can be a result of either congenital or acquired factors. In particular, reports of acute paraplegia due to spinal epidermoid cyst rupture are very rare. Since authors experienced paraplegia resulting from congenital spinal epidermoid cyst rupture during an asthma attack, it is reported with a review of literature.

Kim, Kweon Young; Kang, Jung Hun; Choi, Dae Woo; Lee, Min Hong



Bracing of Children with Paraplegia Resulting from Spina Bifida and Cerebral Palsy.  

National Technical Information Service (NTIS)

Two workshops (1969) on bracings of children with (1) paraplegia from spina bifida and (2) cerebral palsy reflected the current state of treatment programs for these patients. As far as the spina bifida patient with paraplegia was concerned, the consensus...



Diagnosis and management of tuberculous paraplegia with special reference to tuberculous radiculomyelitis.  

PubMed Central

Paraplegia occurred in eight of 17 patients with central nervous system tuberculosis. In six of these paraplegia was the presenting feature. Paraplegia may complicate tuberculous meningitis, or vertebral tuberculosis, but it may also occur, as in three of our cases, as a primary localised spinal tuberculous radiculomyelitis. These cases are presented in relation to the concept that paraplegia complicating these forms of tuberculosis is caused by radiculomyelitis.

Freilich, D; Swash, M



Dissociative paraplegia after epidural anesthesia: a case report  

PubMed Central

Introduction Clinicians are confronted with considerable difficulties in diagnosing conversion disorders such as dissociative paraplegia. In the literature, there is still no sufficient evidence regarding a typical pattern or general characteristics for this neuropsychiatric syndrome. Over the last decades case reports have described patients with similar personality traits, psychopathological characteristics, history and symptoms. Case presentation We present the case of a 67-year-old Caucasian woman of high economic status and educational level with no psychopathological symptoms and no history of mental disorders who developed dissociative paraplegia after epidural anesthesia. The neurological examination revealed incongruous features, and repeated spine magnetic resonance imaging was normal. Three years earlier the patient had transient paralysis of her left lower limb without detectable cause. Conclusion We identified an association between stressful life events and neurological anomalies. Crucial for the diagnosis of dissociative paraplegia is the neurological examination. Our case demonstrates that lack of psychopathological features and previous psychiatric diagnosis are not sufficient to exclude dissociative paraplegia. In patients with incongruous neurological findings and absent neurobiological correlates, clinicians should consider the presence of conversion disorders such as dissociative paraplegia.



Gait analysis of sporadic and hereditary spastic paraplegia  

Microsoft Academic Search

Objectives: Sporadic (SSP) and hereditary spastic paraplegias (HSP) are clinically and genetically heterogeneous disorders, which are characterised by a slowly progressive spastic paraparesis. Initial symptoms and the rate of progression are variable even among members of the same family. Spastic paraparesis is the major and most disabling clinical symptom and was assessed with gait analysis using a three-dimensional infrared movement

S. Klebe; H. Stolze; F. Kopper; D. Lorenz; R. Wenzelburger; J. Volkmann; H. Porschke; G. Deuschl



Spinal epidural lipomatosis with thoracic osteoporotic compression fracture causing paraplegia.  


Spinal epidural lipomatosis (SEL) frequently occurs as a result of long-term steroid administration for various disorders, and patients often present with osteoporosis. Acute paraplegia in patients with extensive thoracic SEL is rare. We report a case of acute paraplegia caused by osteoporotic compression fracture with extensive thoracic SEL in a 44-year-old man with rheumatoid arthritis who had received steroid therapy for 4 years. He presented initially with abdominal distension and weakness of lower limbs, and a sudden onset of paraplegia with complete motor and sensory loss below the T6 level ensued. Plain radiographs showed an osteoporotic compression fracture of the T6 vertebra. Magnetic resonance imaging showed osteoporotic compression fractures of the T5 and T6 vertebrae and SEL from T2 to T10 vertebrae. Decompressive laminectomy with epidural fat debulking was performed, and the pathology was confirmed as epidural lipomatosis. His neurological condition showed no improvement below the T6 level 3 months after surgery. Osteoporotic compression fracture is a risk factor for acute paraplegia in patients with thoracic SEL and decompressive surgery should be performed without delay. PMID:12923598

Chen, Chiu-Liang; Lee, Cheng-Hung; Lee, Tu-Sheng; Lin, Yu-Min; Chen, Yen-Jen



Str?mpell's familial spastic paraplegia: genetics and neuropathology  

PubMed Central

Uncomplicated Strümpell's disease (Strümpell's familial spastic paraplegia) with a dominant mode of inheritance is recorded in six families. The neuropathological findings in two cases from these families are given, bringing the total of similar histologically documented reports in the literature to 11. It is concluded that, although exact classification and identification of the many different hereditary neurological degenerative diseases is not yet practicable, cases conforming to the picture described by Strümpell can be separated from larger general group of familial spastic paraplegias, show a consistent clinical picture, and have a standard pathology. It is suggested that, since the lesions are confined to the longest fibre tracts in the central nervous system, the pathological process may be different from that found in the `system' degenerations. Images

Behan, Wilhelmina M. H.; Maia, Maria



Primary Ewing's sarcoma of the spine presenting as acute paraplegia  

PubMed Central

Ewing's sarcoma is a primary bone malignancy with the highest incidence in the second decade of life. Although it mostly affects the metaphyseal region of long growing bones, involvement of spine is not very uncommon especially the sacrum. Nonsacral spinal Ewing's sarcoma is rarer and often mimics a benign condition before spreading extensively. They present with neurologic deficits due to spinal cord compression, but acute onset paraplegia has not been previously reported. A high index of clinical suspicion can clinch the diagnosis early in the course of the disease. A prompt intervention is required to keep neurological damage to a minimum, and a correct combination of surgery, chemotherapy, and radiotherapy is required for better long-term patient outcome. We report a 16-year-old female who presented with acute paraplegia and had an excellent postoperative outcome after radical excision of a D9 Ewing's sarcoma.

Gopalakrishnan, C. V.; Shrivastava, Adesh; Easwer, H. V.; Nair, Suresh



The effect of adrenergic ?2 receptor agonist on paraplegia following clamping of abdominal aorta  

PubMed Central

Introduction Surgical repair of an aortic aneurysm might be complicated by spinal cord injury and paraplegia. Since ?-adrenoreceptor agonists showed neuroprotective effects, the study was designed to investigate the effect of clenbuterol on post-aortic clamping paraplegia and to identify if there is hyperemia associated with paraplegia. Material and methods Material and methods: Thirty rabbits were divided into two groups: 15 control and 15 experimental (given clenbuterol 9 mg in drinking water 24 h prior to surgery). All the animals were subjected to laparotomy whereas the abdominal aorta was identified. Using a vascular clamp, the abdominal aorta was clamped just distal to the renal arteries. Abdominal aortic blood flow was recorded with a transonic flow meter. The neurological assessment was made according to Tarlov’s Neurological Scale upon recovering from anesthesia. Anal sphincter tonus and bladder sphincter function were also checked. Results Four rabbits (2 control and 2 experimental) developed complete paraplegia within 30 min of cross-clamping of the aorta. Of the 13 controls, 77% developed paraplegia, and of the 13 experimental rabbits administered clenbuterol 24 h prior to surgery with 22 min of aortic cross-clamping, 38% developed paraplegia The rabbits which did not develop paraplegia had a minimal increase in aortic blood flow, whereas the rabbits which developed paraplegia had a significant increase in aortic blood flow measurements after aortic decamping. Conclusions Post-aortic clamping paraplegia is associated with hyperemia and clenbuterol has a significant neuroprotective effect, obviously by preventing an increase in aortic blood flow following unclamping.

Lee, Bok Y.; Al-Waili, Noori; Butler, Glenn



Influence of neurological level of injury in bones, muscles, and fat in paraplegia  

Microsoft Academic Search

To investigate the influence of the neurological level of injury in bone mineral content (BMC) and mechanical proper- ties, lean mass (LM), and fat mass (FM) among paraplegics with a similar duration of paralysis (DOP), we separated 30 paraple- gics into group A (15 men, high-level paraplegia) and group B (15 men, low-level paraplegia) and compared them with group C

Yannis Dionyssiotis; George P. Lyritis; Nikolaos Papaioannou; Thomas Thomaides



Spinal dural arteriovenous fistula presenting with paraplegia following lumbar puncture.  


Spinal dural arteriovenous fistulas are rare lesions with an annual incidence of 1 per 100,000 population. In patients with this disease, an abnormal vascular dural shunt exists between a dural branch of a segmental artery and a subdural radicular vein that drains the perimedullary venous system, leading to venous hypertension and secondary congestive myelopathy. Generally, patients present with progressive paraparesis, urinary disturbances, and gait ataxia. In this report the authors describe a 61-year-old woman with a spinal dural arteriovenous fistula who developed an acute paraplegia after a nontraumatic lumbar puncture. The possible underlying mechanisms and treatment options are discussed. PMID:23641674

Koerts, Guus; Vanthuyne, Vincent; Delavallee, Maxime; Rooijakkers, Herbert; Raftopoulos, Christian



Wheelchair racing: an important modality in acute rehabilitation after paraplegia.  


Sports rehabilitation has been proven effective with patients having spinal cord injury. This case discusses a man with T12/LI paraplegia who had acute rehabilitation augmented by competitive long distance wheelchair racing. Stress testing was used to evaluate cardiorespiratory fitness and to develop parameters whereby maximally efficient training could occur. Wheelchair modifications for racing were necessary. Competitive wheelchair racing was found valuable for this patient's physical, emotional and social rehabilitation. Patient involvement in racing has continued since discharge and the Boston Marathon was completed by wheelchair less than 1 year after onset of spinal cord injury. PMID:6838349

Madorsky, J G; Madorsky, A



Acute aortic occlusion with sudden paraplegia secondary to Aspergillus niger embolism from Aspergillus niger aortitis.  


Acute aortic occlusion caused by a saddle embolus is a rare vascular emergency. Associated sudden paraplegia secondary to spinal cord ischemia is even more uncommon. Aspergillus surgical site infection is typically linked to cardiac surgery but is exceptional. Here we present a case that combines all of these factors. A 67-year-old man presented with sudden paraplegia from acute aortic occlusion with a saddle embolus from Aspergillus niger aortitis 4 months after aortic valve replacement and aortoplasty. We believe this to be the second reported case of Aspergillus niger aortitis and the first presenting as aortic occlusion with paraplegia. PMID:21715126

Jamieson, Russell W; Wallace, William A; Din, Jehangir N; Raza, Zahid



Treatment of Charcot spinal arthropathy following traumatic paraplegia.  


Four cases of Charcot's spinal arthropathy in patients with complete traumatic paraplegia were diagnosed an average of 12 years (range, 4-22 years) postinjury. Each patient had previous posterior spinal fusion with Harrington instrumentation. The Charcot joint occurred just below the fusion near the thoracolumbar junction and well below the level of spinal cord injury. All four patients experienced progressive kyphosis, flexion instability, and loss of height. Each underwent a treatment protocol that included anterior fusion with partial resection of the Charcot joint and staged posterior spinal fusion and stabilization with Cotrel-Dubousset (CD) rods. At follow-up evaluation 18-30 months postoperatively, three of four patients showed complete healing with kyphosis correction. One patient developed loosening of his lower hooks at 6 months postoperatively and required posterior revision with ultimate healing. Resection of the involved segments along with two-stage fusion with segmental instrumentation provides excellent management of this difficult problem. PMID:1806086

McBride, G G; Greenberg, D



Evaluation of activity monitors in manual wheelchair users with paraplegia  

PubMed Central

Objective The aim of this study was to evaluate the performance of SenseWear® (SW) and RT3 activity monitors (AMs) in estimating energy expenditure (EE) in manual wheelchair users (MWUs) with paraplegia for a variety of physical activities. Methods Twenty-four subjects completed four activities including resting, wheelchair propulsion, arm-ergometry exercise, and deskwork. The criterion EE was measured by a K4b2 portable metabolic cart. The EE estimated by the SW and RT3 were compared with the criterion EE by the absolute differences and absolute percentage errors. Intraclass correlations and the Bland and Altman plots were also used to assess the agreements between the two AMs and the metabolic cart. Correlations between the criterion EE and the estimated EE and sensors data from the AMs were evaluated. Results The EE estimation errors for the AMs varied from 24.4 to 125.8% for the SW and from 22.0 to 52.8% for the RT3. The intraclass correlation coefficients (ICCs) between the criterion EE and the EE estimated by the two AMs for each activity and all activities as a whole were considered poor with all the ICCs smaller than 0.75. Except for deskwork, the EE from the SW was more correlated to the criterion EE than the EE from the RT3. Conclusion The results indicate that neither of the AMs is an appropriate tool for quantifying physical activity in MWUs with paraplegia. However, the accuracy of EE estimation could be potentially improved by building new regression models based on wheelchair-related activities.

Hiremath, Shivayogi V.; Ding, Dan



Mortality and paraplegia after thoracoabdominal aortic aneurysm repair: a risk factor analysis  

Microsoft Academic Search

Background. Recent recommendations regarding thoracoabdominal aortic aneurysm (TAAA) management have emphasized individualized treatment based on balancing a patient’s calculated risk of rupture with their anticipated risk of postoperative death or paraplegia. The purpose of this study was to enhance this risk-benefit decision by providing contemporary results and determining which preoperative risk factors currently predict mortality and paraplegia after TAAA surgery.Methods.

Joseph S. Coselli; Scott A. LeMaire; Charles C. Miller III; Zachary C. Schmittling; Cüneyt Köksoy; José Pagan; Patrick E. Curling



Hereditary spastic paraplegia with hypoplastic corpus callosum in a Turkish family.  


Hereditary spastic paraplegia is composed of a heterogeneous group of neurodegenerative disorders and is classified as pure or complicated due to its clinical variability. Autosomal recessive hereditary spastic paraplegia with hypoplastic corpus callosum is a rare form of complicated hereditary spastic paraplegia. In complicated hereditary spastic paraplegia, autosomal dominant, autosomal recessive, and X-linked modes of inheritance have been noted. The diagnostic criteria of autosomal recessive hereditary spastic paraplegia with hypoplastic corpus callosum are inheritance consistent with autosomal recessive trait, slowly progressive spastic paraparesis and mental detoriation, hypoplasia of corpus callosum revealed by brain computerized tomography or magnetic resonance imaging, and exclusion of other disorders by magnetic resonance imaging of the spine and brain as well as other laboratory tests. In this report, the authors present the case of 3 affected siblings in a family from Turkey, whereas 1 child and the con-sanguineous parents were healthy. To the authors' knowledge, it is the first reported case of autosomal recessive hereditary spastic paraplegia with hypoplastic corpus callosum from Turkey. PMID:17621486

Gucuyener, Kivilcim; Hirfanoglu, Tugba; Ok, Ikbal; Cansu, Ali; Serdaroglu, Ayse



Clinical Spectrum of Hereditary Spastic Paraplegia in Children  

PubMed Central

Objectives: The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. Methods: This retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tract involvement. A detailed perinatal and family history, including the age of onset of symptoms, was recorded. The children were labelled as having either the pure or complicated form of HSP based on the established diagnostic criteria. In families with more than one affected child, parents and all other siblings were also examined. Results: Within the study, 74 children from 31 families were diagnosed with HSP. Parental consanguinity was seen in 91% of cases, with 44 children (59.4%) experiencing onset of the disease under one year of age. Complicated HSP was the most common type, seen in 81.1%. Speech involvement, mental retardation, and epilepsy were the most common associated abnormalities. Nonspecific white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging. Conclusion: The study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases.

Koul, Roshan; Al-Murshedi, Fathiya M.; Al-Azri, Faisal M.; Mani, Ranjit; Abdelrahim, Rana A.; Koul, Vivek; Alfutaisi, Amna M.



Paraplegia at the Tikur Anbessa Teaching Hospital: a seven year retrospective study of 164 cases.  


Admission analysis of adult non-traumatic paraplegia and paraparesis from 1981 to 1988 was carried out. Information was collected from charts of 223 consecutive admissions according to a pre-set protocol. Paraplegia or paraparesis was responsible for 164(13.4%) of all neurological admissions over the study period. The median age of the patients was 36 years with a male to female ratio of 1.7:1. Tuberculosis was the leading cause of paraplegia or paraparesis accounting for 47% of the cases. Tumours (20%), Landry-Guillain-Barre' syndrome (12.2%) and tropical spastic paraparesis (TSP) (9.8%) were important but less frequent causes in this series. Other causes like disc prolapse, transverse myelitis, spinal artery stroke and fluorosis were rarely encountered. Vertebral deformity (88.1%), vertebral tenderness (88.1%) and abnormal plain spinal X-ray (89%) were the most helpful findings in the diagnosis of tuberculous paraplegia. Nearly all cases of tuberculous paraplegia were treated medically alone. However, the outcome of treatment as judged by the treating physicians was good with a significant response recorded in 78%. PMID:7895748

Zenebe, G; Oli, K; Tekle-Haimanot, R



Effect of seat cushion on dynamic stability in sitting during a reaching task in wheelchair users with paraplegia  

Microsoft Academic Search

Aissaoui R, Boucher C, Bourbonnais D, Lacoste M, Dansereau J. Effect of seat cushion on dynamic stability in sitting during a reaching task in wheelchair users with paraplegia. Arch Phys Med Rehabil 2001;82:274-81. Objectives: To examine the effects of seat cushions on dynamic stability in sitting during a controlled reaching task by wheelchair users with paraplegia. Design: A randomized, controlled

Rachid Aissaoui; Chantal Boucher; Daniel Bourbonnais; Michèle Lacoste; Jean Dansereau



Coagulopathy Associated with Sac Reperfusion for Reversing Paraplegia After Endovascular Repair of Type II Thoracoabdominal Aneurysm.  


Sac perfusion may be helpful in preventing or reversing spinal cord injury after endovascular repair of thoracoabdominal aneurysms and it has been used as an adjunct to the standard physiologic measures of sustained hypertension and cerebrospinal fluid drainage. Coagulopathy as a result of endoleak after endovascular aneurysm repair has been reported, and very rare cases of treatment after repair of these endoleaks have been described. We report a 73-year-old man who had endovascular repair of a type II thoracoabdominal aneurysm with a branched stent graft. Sac reperfusion was initiated to manage postoperative paraplegia. The paraplegia partially resolved but severe hemorrhagic complications developed that were attributed to sac perfusion-related hyperfibrinolysis. Discontinuation of sac perfusion resolved the coagulopathy but resulted in paraplegia. PMID:23988546

Lioupis, Christos; Katsanos, Konstantinos; Clough, Rachel; Matharu, Nick; Modarai, Bijan; Carrell, Tom; Taylor, Peter



The mouse rumpshaker mutation of the proteolipid protein in human X-linked recessive spastic paraplegia  

SciTech Connect

X-linked recessive spastic paraplegia is a rare neurodegenerative disorder characterized by slowly progressive weakness and spasticity of the lower extremities. We have recently genetically analyzed the original X-linked recessive spastic paraplegia family reported by Johnston and McKusick in 1962. We employed a fluorescent multiplex CA repeat strategy using a 22 locus, 10 cM framework map of the human X chromosome and localized the gene within a 36 cM region of Xq2l.3-q24 which includes the PLP locus. Saugier-Veber et al. recently reported a point mutation (His139Tyr) in exon 3B of the PLP gene in an X-linked recessive spastic paraplegia family (SPG2). This family shows no optic atrophy, in contrast to the family we have studied. This data showed that SPG2 and Pelizaeus-Merzbacher disease were allelic disorders. We investigated the PLP gene as a candidate gene for the original X-linked recessive spastic paraplegia family using SSCP and direct sequencing methods. We found a point mutation (T to C) in exon 4 of affected males which alters the amino-acid (Ile to Thr) at residue 186. This change was absent in the unaffected males of the family and in 40 unrelated control females (80 X chromosomes). Surprisingly, this mutation is identical to the mutation previously identified in the rumpshaker mouse model. The complete homology between both the mouse and human PLP sequence, and the mouse rumpshaker mutation and human spastic paraplegia mutation in our family, permit direct parallels to be drawn with regards to pathophysiology. Our data indicates that the well-documented and striking clinical differences between Pelizaeus-Merzbacher disease and X-linked recessive spastic paraplegia is due to the specific effect of different mutations of the human PLP gene on oligodendrocyte differentiation and development and on later myelin production and maintenance.

Kobayashi, H.; Hoffman, E.P.; Matise, T.C. [and others



CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.  


Thirty-four different loci for hereditary spastic paraplegias have been mapped, and 16 responsible genes have been identified. Autosomal recessive forms of spastic paraplegias usually have clinically complex phenotypes but the SPG5, SPG24 and SPG28 loci are considered to be associated with 'pure' forms of the disease. Very recently, five mutations in the CYP7B1 gene, encoding a cytochrome P450 oxysterol 7-alpha hydroxylase and expressed in brain and liver, have been found in SPG5 families. We analysed the coding region and exon-intron boundaries of the CYP7B1 gene by direct sequencing in a series of 82 unrelated autosomal recessive hereditary spastic paraplegia index patients, manifesting either a pure (n = 52) or a complex form (n = 30) of the disease, and in 90 unrelated index patients with sporadic pure hereditary spastic paraplegia. We identified eight, including six novel, mutations in CYP7B1 segregating in nine families. Three of these mutations were nonsense (p.R63X, p.R112X, p.Y275X) and five were missense mutations (p.T297A, p.R417H, p.R417C, p.F470I, p.R486C), the last four clustering in exon 6 at the C-terminal end of the protein. Residue R417 appeared as a mutational hot-spot. The mean age at onset in 16 patients was 16.4 +/- 12.1 years (range 4-47 years). After a mean disease duration of 28.3 +/- 13.4 years (10-58), spasticity and functional handicap were moderate to severe in all cases. Interestingly, hereditary spastic paraplegia was pure in seven SPG5 families but complex in two. In addition, white matter hyperintensities were observed on brain magnetic resonance imaging in three patients issued from two of the seven pure families. Lastly, the index case of one family had a chronic autoimmune hepatitis while his eldest brother died from cirrhosis and liver failure. Whether this association is fortuitous remains unsolved, however. The frequency of CYP7B1 mutations were 7.3% (n = 6/82) in our series of autosomal recessive hereditary spastic paraplegia families and 3.3% (n = 3/90) in our series of sporadic pure spastic paraplegia. The recent identification of CYP7B1 as the gene responsible for SPG5 highlights a novel molecular mechanism involved in hereditary spastic paraplegia determinism. PMID:19439420

Goizet, Cyril; Boukhris, Amir; Durr, Alexandra; Beetz, Christian; Truchetto, Jeremy; Tesson, Christelle; Tsaousidou, Maria; Forlani, Sylvie; Guyant-Maréchal, Lucie; Fontaine, Bertrand; Guimarães, João; Isidor, Bertrand; Chazouillères, Olivier; Wendum, Dominique; Grid, Djamel; Chevy, Françoise; Chinnery, Patrick F; Coutinho, Paula; Azulay, Jean-Philippe; Feki, Imed; Mochel, Fanny; Wolf, Claude; Mhiri, Chokri; Crosby, Andrew; Brice, Alexis; Stevanin, Giovanni



Paraplegia in a chiropractic patient secondary to atraumatic dural arteriovenous fistula with perimedullary hypertension: case report.  


Intracranial dural arteriovenous fistulas are abnormal communications between higher-pressure arterial circulation and lower-pressure venous circulation. This abnormal communication can result in important and frequently misdiagnosed neurological abnormalities.A case of rapid onset paraplegia following cervical chiropractic manipulation is reviewed. The patient's generalized spinal cord edema, lower extremity paraplegia and upper extremity weakness, were initially believed to be a complication of the cervical spinal manipulation that had occurred earlier on the day of admission. Subsequent diagnostic testing determined the patient suffered from impaired circulation of the cervical spinal cord produced by a Type V intracranial arteriovenous fistula and resultant venous hypertension in the pontomesencephalic and anterior spinal veins.The clinical and imaging findings of an intracranial dural arteriovenous fistula with pontomesencephalic venous congestion and paraplegia are reviewed.This case report emphasizes the importance of thorough and serial diagnostic imaging in the presence of sudden onset paraplegia and the potential for error when concluding atypical neurological presentations are the result of therapeutic misadventure. PMID:23830411

Foreman, Stephen M; Stahl, Michael J; Schultz, Gary D



Development of an indoor rowing machine with manual FES controller for total body exercise in paraplegia  

Microsoft Academic Search

Concept 2 indoor rowing machine (Concept 2 Inc., USA) was modified for functional electrical stimulation (FES) rowing exercise in paraplegia. A new seating system provides trunk stability and constrains the leg motion to the sagittal plane. A 4-channel electrical stimulator activates the quadriceps and hamstrings in Drive and Recovery phases of the rowing cycle, respectively. Two force-sensing resistors (FSR) on

Rahman Davoodi; Brian J. Andrews; Garry D. Wheeler; Robert Lederer



REEP1 Mutation Spectrum and Genotype/Phenotype Correlation in Hereditary Spastic Paraplegia Type 31  

ERIC Educational Resources Information Center

|Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31. In a large collaborative effort, we screened a sample of 535 unrelated HSP patients for "REEP1" mutations and copy number variations. We identified 13 novel and 2 known "REEP1"…

Beetz, Christian; Schule, Rebecca; Deconinck, Tine; Tran-Viet, Khanh-Nhat; Zhu, Hui; Kremer, Berry P. H.; Frints, Suzanna G. M.; van Zelst-Stams, Wendy A. G.; Byrne, Paula; Otto, Susanne; Nygren, Anders O. H.; Baets, Jonathan; Smets, Katrien; Ceulemans, Berten; Dan, Bernard; Nagan, Narasimhan; Kassubek, Jan; Klimpe, Sven; Klopstock, Thomas; Stolze, Henning; Smeets, Hubert J. M.; Schrander-Stumpel, Constance T. R. M.; Hutchinson, Michael; van de Warrenburg, Bart P.; Braastad, Corey; Deufel, Thomas; Pericak-Vance, Margaret; Schols, Ludger; de Jonghe, Peter; Zuchner, Stephan



Carcinoid tumor mistaken for persistent neurogenic bowel symptoms in a patient with paraplegia: A case report  

Microsoft Academic Search

Poduri KR, Schnitzer EM. Carcinoid tumor mistaken for persistent neurogenic bowel symptoms in a patient with paraplegia: a case report. Arch Phys Med Rehabil 2001;82:996-9. Neurogenic bowel in spinal cord injury (SCI) can present with constipation and diarrhea as ongoing problems. Usually, these manifestations are adequately controlled with modification in the bowel program. When these symptoms persist, other causes should

Kanakadurga Rao Poduri; Edward M. Schnitzer



Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study  

Microsoft Academic Search

OBJECTIVESAt least three clinically indistinguishable but genetically different types of autosomal dominant pure spastic paraplegia (ADPSP) have been described. In this study the clinical, genetic, neurophysiological, and MRI characteristics of ADPSP were investigated.METHODSSixty three at risk members from five families were clinically evaluated. A diagnostic index was constructed for the study. Microsatellite genotypes were determined for chromosomes 2p, 14q, and

J E Nielsen; K Krabbe; P Jennum; P Koefoed; L Neerup Jensen; K Fenger; H Eiberg; L Hasholt; L Werdelin; S A Sørensen



Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum  

Microsoft Academic Search

Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is one of the most common complicated forms of autosomal\\u000a recessive hereditary spastic paraplegia (HSP). Mutation in SPG11 gene, which is mapped to chromosome 15q21, was recently found to be a major cause of this variant form of HSP. The aim of\\u000a this study is to investigate SPG11 mutations and clinical manifestations

Sung-Min Kim; Jeong-Seon Lee; Suhyun Kim; Hyun-Jung Kim; Man-Ho Kim; Kyoung-Min Lee; Yoon-Ho Hong; Kyung Seok Park; Jung-Joon Sung; Kwang-Woo Lee



Solitary Plasmacytoma of the Thracic Vertebra Presenting with Sudden Paraplegia and Back Pain: A Pathologic Case Report  

Microsoft Academic Search

Solitary plasmacytoma (SPC) accounts for 5% of plasma cell neoplasm. SPC of the spine is relatively rare, and SPC presenting\\u000a with sudden paraplegia is very rare. A 53 year-old woman was admitted to our hospital complaining of sudden severe paraplegia\\u000a and back pain. Emergency MRI revealed a tumor of the thoracic vertebra no. 10 (Th10). Pressure fracture of the Th10 was

Tadashi Terada



Clinical Evaluation of Percutaneous Vertebroplasty in a Patient with Paraplegia and Immobilization Syndrome: A Case Report  

PubMed Central

We will discuss a potential role of percutaneous vertebroplasty (PVP) in the management of a patient with immobilization syndrome due to paraplegia and vertebral osteoporotic fractures. While PVP is commonly used for the treatment of osteoporotic thoracolumbar vertebral compression fractures, its role in vertebral stabilization in patient with immobilization syndrome has not been reported in the literature. A 73-year-old woman affected by immobilization syndrome due to paraplegia and vertebral osteoporotic fractures was treated with PVP of vertebrae D12, L1, and L4. After PVP, the patient did not need any antalgic therapy, and there was a significant improvement regarding mobilization, performance of physiological functions, daily management of personal care, and treatment of decubitus ulcers, increasing life quality and psychological well-being.

Masala, Salvatore; Calabria, Eros; De Vivo, Dominique; Neroni, Luca; Simonetti, Giovanni



A Rare Hyperextension Injury in Thoracic Spine Presenting with Delayed Paraplegia  

PubMed Central

Hyperextension injury in the thoracic spine is uncommon with only a few cases documented in the literature. The mechanism of these injuries is hyperextension combined with axial or shearing force. These types of injuries are associated with a high risk of dural tears and paraplegia. A 91-year-old female presented with acute back pain from a hyperextension injury in thoracic spine with no neurological deficit. Lumbar magnetic resonance imaging showed a intervertebral disc rupture. On day 20 of hospitalization, the herniated intervertebral disc compressed the spinal cord with incomplete paraplegia. Hyperextension injuries involving the three columns are very unstable and we recommend surgical treatment as soon as possible, not only because of the initial trauma, but a ruptured disc herniation can damage the spinal cord.

Shin, Dong-Eun; Yoon, Hyung-Ku; Lee, Jun-Ku; Cha, Yoon-Sik



Sudden onset of paraplegia caused by hemorrhagic spinal epidural angiolipoma. A case report  

Microsoft Academic Search

Spinal epidural angiolipoma is a rare benign tumor containing vascular and mature adipose elements. A slow progressive clinical\\u000a course was mostly presented and rarely a fluctuating course during pregnancy. The authors report the original case of spontaneous\\u000a spinal epidural bleeding resulting from thoracic epidural angiolipoma who presented with hyperacute onset of paraplegia, simulating\\u000a an extradural hematoma. The patient was admitted

Ali Akhaddar; Abderrahmane Albouzidi; Brahim Elmostarchid; Miloudi Gazzaz; Mohamed Boucetta



Implanted functional electrical stimulation system for mobility in paraplegia: a follow-up case report  

Microsoft Academic Search

A 16-channel functional electrical stimulation (FES) system has been implanted in a person with T10 paraplegia for over a year. The system consists of two eight-channel radio frequency controlled receiver-stimulators delivering stimuli through a network of 14 epimysial and two intramuscular electrodes. Using this system and a walker for support, the subject was able to stand up for 8 min

Rudi Kobetic; Ronald J. Triolo; James P. Uhlir; Carole Bieri; Michael Wibowo; Gordie Polando; E. Byron Marsolais; Kathleen A. Ferguson; Mukut Sharma



Outcome of late surgical treatment in patients with incomplete paraplegia due to spinal degenerative diseases  

Microsoft Academic Search

Study design:Retrospective analysis.Objective:To assess the outcome of late surgical intervention in patients with incomplete paraplegia due to spinal degenerative diseases.Setting:Three men and four women with cervical or thoracic spinal degenerative diseases, who preoperatively were unable to walk for more than 6 months in Mie prefecture, Japan.Methods:Review of clinical records and questionnaire survey regarding the walking ability of patients 2 years

Y Kasai; D Shi; T Sugimoto; K Takegami; A Uchida



Nonlinear modeling of FES-supported standing-up in paraplegia for selection of feedback sensors  

Microsoft Academic Search

This paper presents analysis of the standing-up manoeuvre in paraplegia considering the body supportive forces as a potential feedback source in functional electrical stimulation (FES)-assisted standing-up. The analysis investigates the significance of arm, feet, and seat reaction signals to the human body center-of-mass (COM) trajectory reconstruction. The standing-up behavior of eight paraplegic subjects was analyzed, measuring the motion kinematics and

Roman Kamnik; Jian Qing Shi; Roderick Murray-Smith; Tadej Bajd



Acute paraplegia in painless aortic dissection. Rich imaging with poor outcome  

Microsoft Academic Search

Study design:Case reportObjective:To describe the clinical and imaging findings of a patient with painless aortic dissection.Setting:University Neurology Department, Thessaloniki, GreecePatient, Methods, Results:A 46-year-old man was transferred to our Department for emergent evaluation of paraplegia, from the local hospital of the nearby town, where he was admitted complaining from sudden, painless, bilateral leg weakness, 24 h earlier. He presented complete flaccid

D Karacostas; G Anthomelides; P Ioannides; K Psaroulis; D Psaroulis



Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia  

Microsoft Academic Search

Hereditary spastic paraplegia (HSP) is a neurodegenerative condition defined clinically by lower limb spasticity and weakness.\\u000a Homozygous mutations in CYP7B1 have been identified in several consanguineous families that represented HSP type 5 (SPG5), one of the many genetic forms\\u000a of the disease. We used direct sequencing and multiplex ligation-dependent probe amplification to screen for CYP7B1 alterations in apparently sporadic HSP

Rebecca Schüle; Elisabeth Brandt; Kathrin N. Karle; Maria Tsaousidou; Stephan Klebe; Sven Klimpe; Michaela Auer-Grumbach; Andrew H. Crosby; Christian A. Hübner; Ludger Schöls; Thomas Deufel; Christian Beetz



Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia  

Microsoft Academic Search

.   We evaluated seven families segregating pure, autosomal dominant familial spastic paraplegia (SPG) for linkage to four recently\\u000a identified SPG loci on chromosomes 2q (1), 8q (2), 12q (3), and 19q (4). These families were previously shown to be unlinked\\u000a to SPG loci on chromosomes 2p, 14q, and 15q. Two families demonstrated linkage to the new loci. One family (family

Allison Ashley-Koch; Erin R. Bonner; P. Craig Gaskell; Sandra G. West; Richard Tim; Chantelle M. Wolpert; Rodney Jones; Carolyn D. Farrell; Martha Nance; Ingrid K. Svenson; Douglas A. Marchuk; Rose-Mary N. Boustany; Jeffery M. Vance; William K. Scott; Margaret A. Pericak-Vance



Surgical management of an osteoporotic spinal fracture with delayed onset paraplegia  

Microsoft Academic Search

This report details the presentation and surgical management of an osteoporotic fracture of the thoracic spine with delayed\\u000a onset of paraplegia. The onset of neurological complications was 2 weeks after a relatively minor trauma to the patient’s\\u000a lower back. Surgical management included posterior decompression of the cord and posterior instrumentation. Delayed onset\\u000a of neurological compromise is unusual with osteoporotic fractures and

Mihai Vioreanu; Paul Connolly; Damian McCormack



Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.  


In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pathology underlying these conditions, and here we compare the molecular genetics and cellular pathology of the two groups. PMID:22285450

Timmerman, Vincent; Clowes, Virginia E; Reid, Evan



Iatrogenic paraplegia caused by surgicel used for hemostasis during a thoracotomy: Report of a case  

Microsoft Academic Search

A 46-year-old Japanese woman underwent a right lower lobectomy through a posterolateral incision made in the fifth intercostal\\u000a space under general and epidural anesthesia on January 23, 1995. During the procedure, oxidized regenerated cellulose (Surgicel)\\u000a was used to prevent postoperative rebleeding from the dorsal branch of the fifth intercostal artery. The following day it\\u000a became evident that complete paraplegia had

Satoru Iwabuchi; Kaoru Koike; Takeshi Okabe; Satoshi Tago; Takashi Murakami



Postural control and fear of falling in persons with low-level paraplegia.  


Falls are prevalent reasons for spinal cord injury (SCI). Postinjury fear of falling (FOF) can affect rehabilitation potential. We quantified FOF in 15 men with paraplegia (ambulatory with bilateral knee-ankle-foot orthoses [KAFOs] and elbow crutches) in correlation with their postural control at the center for long-term SCI rehabilitation of a tertiary-care teaching hospital. Our outcome measures comprised the American Spinal Injury Association Impairment Scale, the Modified Falls Efficacy Scale (MFES), postural sway measurements in the anteroposterior and mediolateral directions; and walking speed, cadence, and endurance. We assessed FOF with the MFES followed by measuring postural sway with a force platform. We measured gait parameters by asking the participant to ambulate on an indoor pathway. The mean postural sway was 314.13 +/- 184.05 mm (mean +/- standard deviation) in the anteroposterior direction and 222.16 +/- 112.34 mm in the mediolateral direction. The MFES score was 41.29 +/- 12.77, which showed a statistically significant negative correlation with postural control. The self-perception of confidence as measured by MFES might not really represent the actual postural stability in individuals with low-level paraplegia. FOF can adversely affect the postural control of individuals with low-level paraplegia. Clinicians should consider FOF as an influential factor in postural control during rehabilitation. PMID:20803393

John, Ligie T; Cherian, Binu; Babu, Andrew



Sudden paraplegia following epidural lipomatosis and thoracal compression fracture after long-term steroid therapy: a case report.  


Sudden paraplegia secondary to the posterior spinal epidural compression and vertebral compression fracture as a complication in corticosteroid treatment is extremely rare. The authors presented a case 49-year-old man with chronic relapsing attack of Still's disease. After the identification of pathology, the surgical evacuation of lipid tissue and pedicle-based instrumentation showed therapeutic success. To the authors' knowledge, this is the first case showing both vertebral fracture and paraplegia that required urgent surgery in the follow-up Still's disease. PMID:20012627

Celik, Suat Erol; Erer, Sait B; Güleç, Ilker; Gökcan, Recai; Naderi, Sait



Pigmented villonodular synovitis of thoracic facet joint presenting as rapidly progressive paraplegia.  


Pigmented villonodular synovitis (PVNS) is a proliferative disorder of the synovial membrane of uncertain etiology. It commonly affects synovial joints of the appendicular skeleton and rarely affects the spine. We present the case of a young man presenting with a rapidly progressive myelopathy due to spinal cord compression by PVNS arising from a thoracic facet joint, which finally resulted in paraplegia.The spinal location of PVNS has been seldom emphasized in the rheumatologic literature. PVNS should be considered as a possible cause of soft tissue masses arising from the facet joints, with variable degrees of nerve root or spinal cord compression. PMID:19955996

del Carmen Baena-Ocampo, Leticia; Rosales Olivares, Luis M; Arriaga, Norma Marín; Izaguirre, Aldo; Pineda, Carlos



Surgical treatment for paraplegia resulting from vertebral fractures in senile osteoporosis.  


Seven extremely rare cases of paraplegia secondary to senile osteoporotic vertebral compression fractures were treated by posterior decompression followed by Harrington rod stabilization. This approach not only ensures more satisfactory decompression, but also facilitates early mobilization and rehabilitation. The follow-up period ranged from 1 year to 3 years, 3 months (average, 24.7 months); in all seven cases a substantial overall improvement was achieved. This report demonstrates that an osteoporotic vertebral body fracture can cause a cord compression, and emphasizes the effectiveness and importance of early surgical treatment. PMID:2402688

Shikata, J; Yamamuro, T; Iida, H; Shimizu, K; Yoshikawa, J



REEPing the benefits of an animal model of hereditary spastic paraplegia.  


The hereditary spastic paraplegias (HSPs) are characterized by spasticity of the leg muscles due to axonal degeneration of corticospinal neurons. Beetz et al. report that the core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associated gene Reep1. REEP1 is shown to regulate ER structure in motor cortex neurons. The Reep1 knockout mouse should be a very useful model in which to study the mechanisms of progressive axon loss in HSPs and other disorders. PMID:24051371

Deutch, Ariel Y; Hedera, Peter; Colbran, Roger J



A spastic paraplegia mouse model reveals REEP1-dependent ER shaping  

PubMed Central

Axonopathies are a group of clinically diverse disorders characterized by the progressive degeneration of the axons of specific neurons. In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and cause a spastic movement disorder. HSP is linked to mutations in several loci known collectively as the spastic paraplegia genes (SPGs). We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31. We generated the corresponding mouse model to study the underlying cellular pathology. Mice with heterozygous deletion of exon 2 in Reep1 displayed a gait disorder closely resembling SPG31 in humans. Homozygous exon 2 deletion resulted in the complete loss of REEP1 and a more severe phenotype with earlier onset. At the molecular level, we demonstrated that REEP1 is a neuron-specific, membrane-binding, and membrane curvature–inducing protein that resides in the ER. We further show that Reep1 expression was prominent in cortical motor neurons. In REEP1-deficient mice, these neurons showed reduced complexity of the peripheral ER upon ultrastructural analysis. Our study connects proper neuronal ER architecture to long-term axon survival.

Beetz, Christian; Koch, Nicole; Khundadze, Mukhran; Zimmer, Geraldine; Nietzsche, Sandor; Hertel, Nicole; Huebner, Antje-Kathrin; Mumtaz, Rizwan; Schweizer, Michaela; Dirren, Elisabeth; Karle, Kathrin N.; Irintchev, Andrey; Alvarez, Victoria; Redies, Christoph; Westermann, Martin; Kurth, Ingo; Deufel, Thomas; Kessels, Michael M.; Qualmann, Britta; Hubner, Christian A.



Sudden onset of paraplegia caused by hemorrhagic spinal epidural angiolipoma. A case report  

PubMed Central

Spinal epidural angiolipoma is a rare benign tumor containing vascular and mature adipose elements. A slow progressive clinical course was mostly presented and rarely a fluctuating course during pregnancy. The authors report the original case of spontaneous spinal epidural bleeding resulting from thoracic epidural angiolipoma who presented with hyperacute onset of paraplegia, simulating an extradural hematoma. The patient was admitted with sudden non-traumatic hyperacute paraplegia during a prolonged walk. Neurologic examination showed sensory loss below T6 and bladder disturbances. Spinal MRI revealed a non-enhanced heterogeneous thoracic epidural lesion, extending from T2 to T3. A bilateral T2–T4 laminectomy was performed to achieve resection of a lipomatous tumor containing area of spontaneous hemorrhage. The postoperative course was uneventful with complete neurologic recovery. Histologic examination revealed the tumor as an angiolipoma. Because the prognosis after rapid surgical management of this lesion is favorable, the diagnosis of spinal angiolipoma with bleeding should be considered in the differential diagnosis of hyperacute spinal cord compression.

Albouzidi, Abderrahmane; Elmostarchid, Brahim; Gazzaz, Miloudi; Boucetta, Mohamed



Exome sequencing released a case of X-linked adrenoleukodystrophy mimicking recessive hereditary spastic paraplegia.  


Genetic heterogeneity is common in many Mendelian disorders such as hereditary spastic paraplegia (HSP), which makes the genetic diagnosis more complicated. The goal of this study was to investigate a Chinese family with recessive hereditary spastic paraplegia, of which causative mutations could not be identified using the conventional PCR-based direct sequencing. Next-generation sequencing of all the transcripts of whole genome exome, after on-array hybrid capture, was performed on two affected male subjects (the proband and his brother). A missense mutation (c.1661G>A, p.R554H) was identified in ABCD1. Subsequently, PCR-based direct sequencing of other family members revealed that the mutation was co-segregating with the disease, indicating that ABCD1 mutation was the pathogenic event for this family. Very long-chain fatty acids (VLCFA) assay in the two affected cases confirmed X-ALD. Our study suggests exome sequencing can be used not only to find a novel causative gene, but also to quickly identify mutations of known genes when the clinical elements are etiologically misleading. PMID:23664929

Zhan, Zi-Xiong; Liao, Xin-Xin; Du, Juan; Luo, Ying-Ying; Hu, Zhao-Ting; Wang, Jun-Ling; Yan, Xin-Xiang; Zhang, Jian-Guo; Dai, Mei-Zhi; Zhang, Peng; Xia, Kun; Tang, Bei-Sha; Shen, Lu



A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.  


Axonopathies are a group of clinically diverse disorders characterized by the progressive degeneration of the axons of specific neurons. In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and cause a spastic movement disorder. HSP is linked to mutations in several loci known collectively as the spastic paraplegia genes (SPGs). We identified a heterozygous receptor accessory protein 1 (REEP1) exon 2 deletion in a patient suffering from the autosomal dominantly inherited HSP variant SPG31. We generated the corresponding mouse model to study the underlying cellular pathology. Mice with heterozygous deletion of exon 2 in Reep1 displayed a gait disorder closely resembling SPG31 in humans. Homozygous exon 2 deletion resulted in the complete loss of REEP1 and a more severe phenotype with earlier onset. At the molecular level, we demonstrated that REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the ER. We further show that Reep1 expression was prominent in cortical motor neurons. In REEP1-deficient mice, these neurons showed reduced complexity of the peripheral ER upon ultrastructural analysis. Our study connects proper neuronal ER architecture to long-term axon survival. PMID:24051375

Beetz, Christian; Koch, Nicole; Khundadze, Mukhran; Zimmer, Geraldine; Nietzsche, Sandor; Hertel, Nicole; Huebner, Antje-Kathrin; Mumtaz, Rizwan; Schweizer, Michaela; Dirren, Elisabeth; Karle, Kathrin N; Irintchev, Andrey; Alvarez, Victoria; Redies, Christoph; Westermann, Martin; Kurth, Ingo; Deufel, Thomas; Kessels, Michael M; Qualmann, Britta; Hübner, Christian A



Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).  


Hereditary spastic paraplegias (HSP) are a genetically heterogeneous group of disorders characterized by a distal axonopathy of the corticospinal tract motor neurons leading to progressive lower limb spasticity and weakness. Intracellular membrane trafficking, mitochondrial dysfunction and myelin formation are key functions involved in HSP pathogenesis. Only recently defects in metabolism of complex lipids have been implicated in a number of HSP subtypes. Mutations in the 23 known autosomal recessive HSP genes explain less than half of autosomal recessive HSP cases. To identify novel autosomal recessive HSP disease genes, exome sequencing was performed in 79 index cases with autosomal recessive forms of HSP. Resulting variants were filtered and intersected between families to allow identification of new disease genes. We identified two deleterious mutations in the phospholipase DDHD2 gene in two families with complicated HSP. The phenotype is characterized by early onset of spastic paraplegia, mental retardation, short stature and dysgenesis of the corpus callosum. Phospholipase DDHD2 is involved in intracellular membrane trafficking at the golgi/ endoplasmic reticulum interface and has been shown to possess phospholipase A1 activity in vitro. Discovery of DDHD2 mutations in HSP might therefore provide a link between two key pathogenic themes in HSP: membrane trafficking and lipid metabolism. PMID:23486545

Gonzalez, Michael; Nampoothiri, Sheela; Kornblum, Cornelia; Oteyza, Andrés Caballero; Walter, Jochen; Konidari, Ioanna; Hulme, William; Speziani, Fiorella; Schöls, Ludger; Züchner, Stephan; Schüle, Rebecca



Intercostal nerves to spinal nerve roots anastomosis (spinal cord bypass) and Harrington rod fusion in traumatic paraplegia — Technical note  

Microsoft Academic Search

Summary This paper describes the technique of anastomosis of intercostal nerves to spinal nerve roots together with Harrington Rod fusion in traumatic paraplegia, with the help of a case history in which this combined procedure has been performed for the first time.

A. Patil



Full Body Gait Analysis May Improve Diagnostic Discrimination Between Hereditary Spastic Paraplegia and Spastic Diplegia: A Preliminary Study  

ERIC Educational Resources Information Center

|Hereditary spastic paraplegia (HSP) and spastic diplegia (SD) patients share a strong clinical resemblance. Thus, HSP patients are frequently misdiagnosed with a mild form of SD. Clinical gait analysis (CGA) has been highlighted as a possible tool to support the differential diagnosis of HSP and SD. Previous analysis has focused on the lower-body…

Bonnefoy-Mazure, A.; Turcot, K.; Kaelin, A.; De Coulon, G.; Armand, S.



A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.  


Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locus 12q13.3). We describe the clinical, neurophysiological, morphological and genetic study of an Italian family with AD-HSP. The proband presented with an adult onset spastic paraparesis and diffuse paresthesias where neurophysiological and nerve biopsy morphological studies revealed an axonal neuropathy. Molecular genetic analysis identified a new missense mutation (c.608C>G) of KIF5A gene resulting in a serine to cysteine substitution, S203C, located in a highly conserved domain of the protein. This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10. PMID:21107874

Musumeci, Olimpia; Bassi, Maria Teresa; Mazzeo, Anna; Grandis, Marina; Crimella, Claudia; Martinuzzi, Andrea; Toscano, Antonio




PubMed Central

Transient spinal cord ischemia in humans can lead to the development of permanent paraplegia with prominent spasticity and rigidity. Histopathological analysis of spinal cords in animals with ischemic spastic paraplegia show a selective loss of small inhibitory interneurons in previously ischemic segments but with a continuing presence of ventral ?-motoneurons and descending cortico-spinal and rubro-spinal projections. The aim of the present study was to examine the effect of human spinal stem cells (hSSCs) implanted spinally in rats with fully developed ischemic paraplegia on the recovery of motor function and corresponding changes in motor evoked potentials. In addition the optimal time frame for cell grafting after ischemia and the optimal dosing of grafted cells were also studied. Spinal cord ischemia was induced for 10 min using intra-aortic balloon and systemic hypotension. In the functional recovery study, hSSCs (10 000–30 000 cells/0.5 ?l/injection) were grafted into spinal central gray matter of L2-L5 segments at 21 days after ischemia. Animals were immunosuppressed with Prograf (1mg/kg or 3mg/kg) for the duration of the study. After cell grafting the recovery of motor function was assessed periodically using BBB scoring system and correlated with the recovery of motor evoked potentials. At predetermined times after grafting (2–12 weeks), animals were perfusion-fixed and the survival, and maturation of implanted cells were analyzed using antibodies recognizing human-specific antigens: nuclear protein (hNUMA), neural cell adhesion molecule (hMOC), neuron-specific enolase (hNSE) and synapthophysin (hSYN) as well as the non-human specific antibodies TUJ1, GFAP, GABA, GAD65 and GLYT2. After cell grafting a time-dependent improvement in motor function and suppression of spasticity and rigidity was seen and this improvement correlated with the recovery of motor evoked potentials. Immunohistochemical analysis of grafted lumbar segments at 8 and 12 weeks after grafting revealed intense hNSE immunoreactivity, an extensive axo-dendritic outgrowth as well as rostrocaudal and dorsoventral migration of implanted NUMA-positive cells. An intense hSYN immunoreactivity was identified within the grafts and in the vicinity of persisting ?-motoneurons. On average, 64% of hSYN terminals were GAD65 immunoreactive which corresponded to GABA immunoreactivity identified in 40–45% of NUMA-positive grafted cells. The most robust survival of grafted cells was seen when cells were grafted 21 days after ischemia. As defined by cell survival and laminar distribution, the optimal dose of injected cells was 10 000–30 000 cells per injection. These data indicate that spinal grafting of hSSCs can represent an effective therapy for patients with spinal ischemic paraplegia.

Cizkova, Dasa; Kakinohana, Osamu; Kucharova, Karolina; Marsala, Silvia; Johe, Karl; Hazel, Thomas; Hefferan, Michael P.; Marsala, Martin



Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia  

PubMed Central

Oligodendrocytes are critical for the development of the plasma membrane and cytoskeleton of the axon. In this paper, we show that fast axonal transport is also dependent on the oligodendrocyte. Using a mouse model of hereditary spastic paraplegia type 2 due to a null mutation of the myelin Plp gene, we find a progressive impairment in fast retrograde and anterograde transport. Increased levels of retrograde motor protein subunits are associated with accumulation of membranous organelles distal to nodal complexes. Using cell transplantation, we show categorically that the axonal phenotype is related to the presence of the overlying Plp null myelin. Our data demonstrate a novel role for oligodendrocytes in the local regulation of axonal function and have implications for the axonal loss associated with secondary progressive multiple sclerosis.

Edgar, Julia M.; McLaughlin, Mark; Yool, Donald; Zhang, Su-Chun; Fowler, Jill H.; Montague, Paul; Barrie, Jennifer A.; McCulloch, Mailis C.; Duncan, Ian D.; Garbern, James; Nave, Klaus A.; Griffiths, Ian R.



Paraplegia due to Missed Thoracic Meningioma after Laminotomy for Lumbar Spinal Stenosis: Report of Two Cases  

PubMed Central

To describe two cases of thoracic paraplegia due to a thoracic spinal cord tumor (meningioma) that was not detected during lumbar spinal decompressive surgery for lumbar canal stenosis and a complaint of claudication. The follow-up period ranged from 1 year and 6 months to 1 year and 8 months. The neurological deficit due to thoracic meningioma after surgery for lumbar canal stensois was decreased after mass excision. So, careful physical examination and magnetic resonance imaging can reveal another thoracic spine compressive lesion such as meningioma. Additional thoracic decompressive surgery can provide partial amelioration of each patient's neurological condition. Surgeons should know that a silent meningioma can aggrevate neurological symptoms after lower lumbar spine surgery and should inform their patient before surgery.

Lee, Sang-Wook; Shim, Jung-Hyun



Acute Paraplegia Secondary to Thoracic Disc Herniation of the Adjacent Segment Following Thoracolumbar Fusion and Instrumentation  

PubMed Central

Proximal junctional disease is a well-recognized postoperative phenomenon in adults who are undergoing long thoracolumbar fusion and instrumentation, and is attributed to increased a junctional stress concentration. In general, the onset of symptoms in these patients is insidious and the disease progresses slowly. We report on a contrary case of rapidly progressing paraplegia secondary to acute disc herniation at the proximal adjacent segment after long posterior thoracolumbar fusion with cement augmentation at the upper instrumented vertebra and the supra-adjacent vertebra. The patient was treated with a discectomy through the costo-transverse approach combined with extension of the posterior instrumentation. The patient's neurological status improved markedly. Stress concentration at the proximal junction disc space may have caused accelerated disc degeneration which in turn lead to this complication.

Assaker, Richard; Musharrafieh, Ramzi Sharif



Rapidly progressive paraplegia due to an extradural lumbar meningocele mimicking a cyst. Case report.  


Unlike arachnoid meningoceles, arachnoid cysts frequently cause local pressure effects probably because there is no free communication between the cyst and the subarachnoid space. Following the first detailed description of cystic lesions of spinal nerve roots by Tarlov in 1938, a simplified classification of spinal meningeal cysts was developed in 1988, containing three major categories. The authors report on a lumbar intraspinal extradural meningocele that caused incomplete paraplegia in an otherwise healthy 31-year-old man in whom magnetic resonance imaging revealed stigmata of Scheuermann disease. Intraoperatively, the lesion was classified as a transitional-type lesion, in accordance with Type IA of the Nabors classification, because a communication with the subarachnoid space was observed. After complete removal of the meningocele, the patient's recovery was prompt and complete. PMID:17633492

Fiss, Ingo; Danne, Marco; Hartmann, Christian; Brock, Mario; Stendel, Ruediger



Shear fracture-dislocations of the thoracic and lumbar spine associated with forceful hyperextension (lumberjack paraplegia).  


Twelve patients sustained a shear fracture-dislocation of their thoracic or lumbar spines by a hyperextension mechanism of injury. Ten male and two female patients were injured; their average age was 29 years (range, 22 months to 56 years). Ten fracture-dislocations occurred in the thoracic spine, one at the thoracolumbar junction, and one in the lumbar spine. Eleven patients had complete paraplegia, and one had incomplete paraplegia at the time of injury. Dural tears were found in six of the patients. Eleven patients were treated by posterior spinal fusion with instrumentation, and one was treated with a brace. Three patients were treated with Harrington distraction rods alone, six had Harrington distraction rods supplemented with a midline Harrington compression rod or interspinous wiring, and two were treated with Cotrel-Dubousset instrumentation. No patient was lost to follow-up. The average length of follow-up was 3.5 years (range, 1-9 years). Six of the patients treated with Cotrel-Dubousset instrumentation or Harrington distraction rods supplemented with either a midline compression rod or interspinous wiring healed anatomically; two patients developed pseudarthroses. None of the patients treated with Harrington distraction rods alone healed in an anatomic position. The use of Harrington distraction rods alone was associated with overdistraction and nonanatomic alignment of the spine. The disruption of the anterior stabilizing structures of the spine associated with hyperextension injuries necessitates the use of instrumentation that can stabilize the spine and prevent overdistraction. This injury can be successfully treated with Cotrel-Dubousset or Harrington distraction rods supplemented with either a midline compression rod or interspinous wiring. PMID:1553586

Denis, F; Burkus, J K



Enhancing stance phase propulsion during level walking by combining FES with a powered exoskeleton for persons with paraplegia.  


This paper describes the design and implementation of a cooperative controller that combines functional electrical stimulation (FES) with a powered lower limb exoskeleton to provide enhanced hip extension during the stance phase of walking in persons with paraplegia. The controller utilizes two sources of actuation: the electric motors of the powered exoskeleton and the user's machine (FSM), a set of FES. It consists of a finite-state machine (FSM), a set of proportional-derivative (PD) controllers for the exoskeleton and a cycle-to-cycle adaptive controller for muscle stimulation. Level ground walking is conducted on a single subject with complete T10 paraplegia. Results show a 34% reduction in electrical power requirements at the hip joints during the stance phase of the gait cycle with the cooperative controller compared to using electric motors alone. PMID:23365900

Ha, Kevin H; Quintero, Hugo A; Farris, Ryan J; Goldfarb, Michael



Enhancing Stance Phase Propulsion during Level Walking by Combining FES with a Powered Exoskeleton for Persons with Paraplegia*  

PubMed Central

This paper describes the design and implementation of a cooperative controller that combines functional electrical stimulation (FES) with a powered lower limb exoskeleton to provide enhanced hip extension during the stance phase of walking in persons with paraplegia. The controller utilizes two sources of actuation: the electric motors of the powered exoskeleton and the user’s hamstrings activated by FES. It consists of a finite-state machine (FSM), a set of proportional-derivative (PD) controllers for the exoskeleton and a cycle-to-cycle adaptive controller for muscle stimulation. Level ground walking is conducted on a single subject with complete T10 paraplegia. Results show a 34% reduction in electrical power requirements at the hip joints during the stance phase of the gait cycle with the cooperative controller compared to using electric motors alone.

Ha, Kevin H.; Quintero, Hugo A.; Farris, Ryan J.; Goldfarb, Michael



Total recuperation in a case of sudden total paraplegia due to an aneurysmal bone cyst of the thoracic spine  

Microsoft Academic Search

A 3-year-old girl developed sudden complete paraplegia because of an aneurysmal bone cyst of the fourth thoracic vertebra. We performed a two-step surgical procedure resulting in complete neurological recuperation and no cyst recurrence within 2.5-year follow-up. Although the literature shows the prognosis of such a condition to be poor, this case reveals the positive effect of rapid surgical decompression and

Christian Raftopoulos; Alfredo Hurrel; Linda Ticket; Henri B. Szliwowski; Jacques Brotchi



Urodynamic evaluation of patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24  

Microsoft Academic Search

OBJECTIVESThere are at least three clinically indistinguishable but genetically different types of autosomal dominant pure spastic paraplegia (ADPSP). Lower urinary tract symptoms are often present but have not been described in a homogeneous patient population. In this study lower urinary tract symptoms, cystometrical, and neurophysiological characteristics are described in patients with ADPSP linked to chromosome 2p21-p24.METHODSLower urinary tract symptoms were

L Neerup Jensen; T Gerstenberg; E B Kallestrup; P Koefoed; J Nordling; J E Nielsen



Transcriptional and PostTranscriptional Regulation of SPAST, the Gene Most Frequently Mutated in Hereditary Spastic Paraplegia  

Microsoft Academic Search

Hereditary spastic paraplegias (HSPs) comprise a group of neurodegenerative disorders that are characterized by progressive spasticity of the lower extremities, due to axonal degeneration in the corticospinal motor tracts. HSPs are genetically heterogeneous and show autosomal dominant inheritance in ?70–80% of cases, with additional cases being recessive or X-linked. The most common type of HSP is SPG4 with mutations in

Brian J. Henson; Wan Zhu; Kelsey Hardaway; Jaime L. Wetzel; Mihaela Stefan; Kathryn M. Albers; Robert D. Nicholls



Comparative Study on the Wrist Positions During Raise Maneuver and Their Effect on Hand Function in Individuals With Paraplegia  

PubMed Central

Objective: To determine the appropriate wrist position in individuals with high-level paraplegia during the RAISE (relief of anatomical ischial skin embarrassment) maneuver. Method: Thirty individuals with high-level paraplegia were randomly selected; 15 individuals performed RAISE maneuver with extended wrist and 15 with neutral wrist. All the subjects who were at least 1 year post spinal cord injury were screened for positive carpal tunnel syndrome symptoms. All the subjects were allowed to participate in a trial of the Jebsen-Taylor Test of Hand Function to familiarize them with the test. Hand function was measured using the Jebsen-Taylor test. Results: During the RAISE maneuver, individuals with paraplegia weight bearing on their hands with wrists in the neutral position showed better hand function (P < .001) when compared to those weight bearing with their wrists in extension. Conclusion: Weight bearing with the wrist in neutral position is advisable for paraplegics to prevent the deterioration in hand function due to carpal tunnel syndrome.



The effects of traditional and computer-aided instruction on promoting independent skin care in adults with paraplegia.  


This study aimed to explore the viability of using computer-aided instruction (CAI) as an educational tool for promoting independent skin care in adults with paraplegia. There is a need to identify effective intervention strategies that provide health education for skin care management and the prevention of pressure ulcers for individuals with spinal cord injuries (SCI). There continues to be tremendous financial and personal costs associated with the treatment of pressure ulcers and the prevalence of skin breakdown among the SCI population, despite traditional educational methods. The methodology used in this study evaluated to what degree CAI assisted individuals with paraplegia to acquire knowledge and demonstrate skills necessary for optimal skin care. Results were obtained using a multiple baseline across subjects approach including an ABC (for two subjects) and an AC (for one subject) single case experimental design. Results indicated that CAI was more effective than traditional educational methods in increasing the initiation and performance of pressure-relieving techniques. Limitations in this study include the possibility of carryover effects, relatively short time periods for baseline and treatment conditions, and extraneous variables that were difficult to control such as the participants' level of motivation and cooperation. Further study using a larger group design with a control group is recommended to explore the effects CAI has on promoting optimal skin care among adults with paraplegia. PMID:12830316

Pellerito, Joseph M



Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.  


Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited disorders in which lower extremity weakness and spasticity are the predominant symptoms. There are more than 50 genetic types of HSP. HSP affects individuals of diverse ethnic groups with prevalence estimates ranging from 1.2 to 9.6 per 100,000. Symptoms may begin at any age. Gait impairment that begins after childhood usually worsens very slowly over many years. Gait impairment that begins in infancy and early childhood may not worsen significantly. Postmortem studies consistently identify degeneration of corticospinal tract axons (maximal in the thoracic spinal cord) and degeneration of fasciculus gracilis fibers (maximal in the cervico-medullary region). HSP syndromes thus appear to involve motor-sensory axon degeneration affecting predominantly (but not exclusively) the distal ends of long central nervous system (CNS) axons. In general, proteins encoded by HSP genes have diverse functions including (1) axon transport (e.g. SPG30/KIF1A, SPG10/KIF5A and possibly SPG4/Spastin); (2) endoplasmic reticulum morphology (e.g. SPG3A/Atlastin, SPG4/Spastin, SPG12/reticulon 2, and SPG31/REEP1, all of which interact); (3) mitochondrial function (e.g. SPG13/chaperonin 60/heat-shock protein 60, SPG7/paraplegin; and mitochondrial ATP6); (4) myelin formation (e.g. SPG2/Proteolipid protein and SPG42/Connexin 47); (5) protein folding and ER-stress response (SPG6/NIPA1, SPG8/K1AA0196 (Strumpellin), SGP17/BSCL2 (Seipin), "mutilating sensory neuropathy with spastic paraplegia" owing to CcT5 mutation and presumably SPG18/ERLIN2); (6) corticospinal tract and other neurodevelopment (e.g. SPG1/L1 cell adhesion molecule and SPG22/thyroid transporter MCT8); (7) fatty acid and phospholipid metabolism (e.g. SPG28/DDHD1, SPG35/FA2H, SPG39/NTE, SPG54/DDHD2, and SPG56/CYP2U1); and (8) endosome membrane trafficking and vesicle formation (e.g. SPG47/AP4B1, SPG48/KIAA0415, SPG50/AP4M1, SPG51/AP4E, SPG52/AP4S1, and VSPG53/VPS37A). The availability of animal models (including bovine, murine, zebrafish, Drosophila, and C. elegans) for many types of HSP permits exploration of disease mechanisms and potential treatments. This review highlights emerging concepts of this large group of clinically similar disorders. PMID:23897027

Fink, John K



Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy  

PubMed Central

Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ligation-dependent probe amplification (n = 7); previously reported ambiguous SPG7 cases (n = 5); patients carefully selected on the basis of their phenotype (spasticity of the lower limbs with cerebellar signs and/or cerebellar atrophy on magnetic resonance imaging/computer tomography scan and/or optic neuropathy and without other signs) (n = 24); patients with hereditary spastic paraparesis referred consecutively from attending neurologists and the national reference centre in a diagnostic setting (n = 98); and the index case of a four-generation family with autosomal dominant optic neuropathy but no spasticity linked to the SPG7 locus. We identified two SPG7 mutations in 23/134 spastic patients, 21% of the patients selected according to phenotype but only 8% of those referred directly. Our results confirm the pathogenicity of Ala510Val, which was the most frequent mutation in our series (65%) and segregated at the homozygous state with spastic paraparesis in a large family with autosomal recessive inheritance. All SPG7-positive patients tested had optic neuropathy or abnormalities revealed by optical coherence tomography, indicating that abnormalities in optical coherence tomography could be a clinical biomarker for SPG7 testing. In addition, the presence of late-onset very slowly progressive spastic gait (median age 39 years, range 18–52 years) associated with cerebellar ataxia (39%) or cerebellar atrophy (47%) constitute, with abnormal optical coherence tomography, key features pointing towards SPG7-testing. Interestingly, three relatives of patients with heterozygote SPG7 mutations had cerebellar signs and atrophy, or peripheral neuropathy, but no spasticity of the lower limbs, suggesting that SPG7 mutations at the heterozygous state might predispose to late-onset neurodegenerative disorders, mimicking autosomal dominant inheritance. Finally, a novel missense SPG7 mutation at the heterozygous state (Asp411Ala) was identified as the cause of autosomal dominant optic neuropathy in a large family, indicating that some SPG7 mutations can occasionally be dominantly inherited and be an uncommon cause of isolated optic neuropathy. Altogether, these results emphasize the clinical variability associated with SPG7 mutations, ranging from optic neuropathy to spastic paraplegia, and support the view that SPG7 screening should be carried out in both conditions.

Klebe, Stephan; Depienne, Christel; Gerber, Sylvie; Challe, Georges; Anheim, Mathieu; Charles, Perrine; Fedirko, Estelle; Lejeune, Elodie; Cottineau, Julien; Brusco, Alfredo; Dollfus, Helene; Chinnery, Patrick F.; Mancini, Cecilia; Ferrer, Xavier; Sole, Guilhem; Destee, Alain; Mayer, Jean-Michel; Fontaine, Bertrand; de Seze, Jerome; Clanet, Michel; Ollagnon, Elisabeth; Busson, Philippe; Cazeneuve, Cecile; Stevanin, Giovanni; Kaplan, Josseline; Rozet, Jean-Michel; Brice, Alexis



Autologous olfactory ensheathing cell transplantation in human paraplegia: a 3-year clinical trial  

PubMed Central

Olfactory ensheathing cells show promise in preclinical animal models as a cell transplantation therapy for repair of the injured spinal cord. This is a report of a clinical trial of autologous transplantation of olfactory ensheathing cells into the spinal cord in six patients with complete, thoracic paraplegia. We previously reported on the methods of surgery and transplantation and the safety aspects of the trial 1 year after transplantation. Here we address the overall design of the trial and the safety of the procedure, assessed during a period of 3 years following the transplantation surgery. All patients were assessed at entry into the trial and regularly during the period of the trial. Clinical assessments included medical, psychosocial, radiological and neurological, as well as specialized tests of neurological and functional deficits (standard American Spinal Injury Association and Functional Independence Measure assessments). Quantitative test included neurophysiological tests of sensory and motor function below the level of injury. The trial was a Phase I/IIa design whose main aim was to test the feasibility and safety of transplantation of autologous olfactory ensheathing cells into the injured spinal cord in human paraplegia. The design included a control group who did not receive surgery, otherwise closely matched to the transplant recipient group. This group acted as a control for the assessors, who were blind to the treatment status of the patients. The control group also provided the opportunity for preliminary assessment of the efficacy of the transplantation. There were no adverse findings 3 years after autologous transplantation of olfactory ensheathing cells into spinal cords injured at least 2 years prior to transplantation. The magnetic resonance images (MRIs) at 3 years showed no change from preoperative MRIs or intervening MRIs at 1 and 2 years, with no evidence of any tumour of introduced cells and no development of post-traumatic syringomyelia or other adverse radiological findings. There were no significant functional changes in any patients and no neuropathic pain. In one transplant recipient, there was an improvement over 3 segments in light touch and pin prick sensitivity bilaterally, anteriorly and posteriorly. We conclude that transplantation of autologous olfactory ensheathing cells into the injured spinal cord is feasible and is safe up to 3 years of post-implantation, however, this conclusion should be considered preliminary because of the small number of trial patients.

Feron, F.; Cochrane, J.; Bassingthwaighte, L.; Bayliss, C.; Davies, W.; Fronek, P.; Gray, C.; Kerr, G.; Licina, P.; Nowitzke, A.; Perry, C.; Silburn, P.A.S.; Urquhart, S.; Geraghty, T.



Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.  


Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease comprises pure and complex forms that clinically include slowly progressive lower-limb spasticity resulting from degeneration of the corticospinal tract. At least 48 loci accounting for these diseases have been mapped to date, and mutations have been identified in 22 genes, most of which play a role in intracellular trafficking. Here, we identified mutations in two functionally related genes (DDHD1 and CYP2U1) in individuals with autosomal-recessive forms of HSP by using either the classical positional cloning or a combination of whole-genome linkage mapping and next-generation sequencing. Interestingly, three subjects with CYP2U1 mutations presented with a thin corpus callosum, white-matter abnormalities, and/or calcification of the basal ganglia. These genes code for two enzymes involved in fatty-acid metabolism, and we have demonstrated in human cells that the HSP pathophysiology includes alteration of mitochondrial architecture and bioenergetics with increased oxidative stress. Our combined results focus attention on lipid metabolism as a critical HSP pathway with a deleterious impact on mitochondrial bioenergetic function. PMID:23176821

Tesson, Christelle; Nawara, Magdalena; Salih, Mustafa A M; Rossignol, Rodrigue; Zaki, Maha S; Al Balwi, Mohammed; Schule, Rebecca; Mignot, Cyril; Obre, Emilie; Bouhouche, Ahmed; Santorelli, Filippo M; Durand, Christelle M; Oteyza, Andrés Caballero; El-Hachimi, Khalid H; Al Drees, Abdulmajeed; Bouslam, Naima; Lamari, Foudil; Elmalik, Salah A; Kabiraj, Mohammad M; Seidahmed, Mohammed Z; Esteves, Typhaine; Gaussen, Marion; Monin, Marie-Lorraine; Gyapay, Gabor; Lechner, Doris; Gonzalez, Michael; Depienne, Christel; Mochel, Fanny; Lavie, Julie; Schols, Ludger; Lacombe, Didier; Yahyaoui, Mohamed; Al Abdulkareem, Ibrahim; Zuchner, Stephan; Yamashita, Atsushi; Benomar, Ali; Goizet, Cyril; Durr, Alexandra; Gleeson, Joseph G; Darios, Frederic; Brice, Alexis; Stevanin, Giovanni



Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15  

PubMed Central

The AP-5 complex is a recently identified but evolutionarily ancient member of the family of heterotetrameric adaptor proteins (AP complexes). It is associated with two proteins that are mutated in patients with hereditary spastic paraplegia, SPG11 and SPG15. Here we show that the four AP-5 subunits can be coimmunoprecipitated with SPG11 and SPG15, both from cytosol and from detergent-extracted membranes, with a stoichiometry of ?1:1:1:1:1:1. Knockdowns of SPG11 or SPG15 phenocopy knockdowns of AP-5 subunits: all six knockdowns cause the cation-independent mannose 6-phosphate receptor to become trapped in clusters of early endosomes. In addition, AP-5, SPG11, and SPG15 colocalize on a late endosomal/lysosomal compartment. Both SPG11 and SPG15 have predicted secondary structures containing ?-solenoids related to those of clathrin heavy chain and COPI subunits. SPG11 also has an N-terminal, ?-propeller–like domain, which interacts in vitro with AP-5. We propose that AP-5, SPG15, and SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating the docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold.

Hirst, Jennifer; Borner, Georg H. H.; Edgar, James; Hein, Marco Y.; Mann, Matthias; Buchholz, Frank; Antrobus, Robin; Robinson, Margaret S.



Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.  


Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. We therefore studied the disease course of all patients with a proven SPG11 mutation as tested in our laboratory, the single Dutch laboratory providing SPG11 mutation analysis, between 1 January 2009 and 1 January 2011. We identified nine different SPG11 mutations, four of which are novel, in nine index patients. Eighteen SPG11 patients from these nine families were studied by means of a retrospective chart analysis and additional interview/examination. Ages at onset were between 4 months and 14 years; 39% started with learning difficulties rather than gait impairment. Brain magnetic resonance imaging showed a thin corpus callosum and typical periventricular white matter changes in the frontal horn region (known as the 'ears-of the lynx'-sign) in all. Most patients became wheelchair bound after a disease duration of 1 to 2 decades. End-stage disease consisted of loss of spontaneous speech, severe dysphagia, spastic tetraplegia with peripheral nerve involvement and contractures. Several patients died of complications between ages 30 and 48 years, 3-4 decades after onset of gait impairment. Other relevant features during the disease were urinary and fecal incontinence, obesity and psychosis. Our study of 18 Dutch SPG11-patients shows the potential serious long-term consequences of SPG11 including a possibly restricted life span. PMID:23443022

de Bot, Susanne T; Burggraaff, Rogier C; Herkert, Johanna C; Schelhaas, Helenius J; Post, Bart; Diekstra, Adinda; van Vliet, Reinout O; van der Knaap, Marjo S; Kamsteeg, Erik-Jan; Scheffer, Hans; van de Warrenburg, Bart P; Verschuuren-Bemelmans, Corien C; Kremer, Hubertus Ph



[Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)].  


Familial spastic paraplegia (FSP) with severe muscular atrophy of hands and feet is exceptional. Autosomal dominant forms were initially described by Silver in 1966. We report two cases, from the same Tunisian family, presenting FSP with severe amyotrophy of the hands. A brother and his sister, aged respectively 37 and 36 years old, presented practically the same clinical picture. Their parents were cousins. The female patient was hospitalized. Both patients developed gait disorders around the age of three years. Muscular atrophy of the hands arose much later, around the age of 20 years. The neurological examination disclosed a spastic gait with distal amyotrophy, severe in the hands and moderate in the feet. Sensitivity was preserved and there was no fasciculation. The spinal cord and cerebral MRI was normal. Electromyography (EMG) showed a neurogenic pattern in the distal muscles. Stimulation of the median, ulnar and sciatica nerves was ineffective. The somatosensory evoked potentials (EP) were delayed (upper limb) or desynchronised (lower limb). The auditory and visual EP were normal. The cerebrospinal fluid contained 1 mononuclear cell/mm3 and 10 mg protein/100 ml. Abnormalities of the cranio-vertebral junction, Arnold-Chiari malformation, syringomyelia and familial juvenile amyotrophic lateral sclerosis (ALS) were excluded and the diagnosis of Silver's syndrome was evoked. PMID:17452950

Feki, I; Miladi, M I; Elleuch, N; Boukhris, A; Stévanin, G; Brice, A; Mhiri, C



A Method for the Autonomous Control of Lower Limb Exo-skeletons for Persons with Paraplegia  

PubMed Central

Efforts have recently been reported by several research groups on the development of computer-controlled lower limb orthoses to enable legged locomotion in persons with paraplegia. Such systems must employ a control framework that provides essential movements to the paraplegic user (i.e., sitting, standing, and walking), and ideally enable the user to autonomously command these various movements in a safe, reliable, and intuitive manner. This paper describes a control method that enables a paraplegic user to perform sitting, standing, and walking movements, which are commanded based on postural information measured by the device. The proposed user interface and control structure was implemented on a powered lower limb orthosis, and the system was tested on a paraplegic subject with a T10 complete injury. Experimental data is presented that indicates the ability of the proposed control architecture to provide appropriate user-initiated control of sitting, standing, and walking. The authors also provide a link to a video that qualitatively demonstrates the user’s ability to independently control basic movements via the proposed control method.

Quintero, Hugo A.; Farris, Ryan J.; Goldfarb, Michael



Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.  


Hereditary spastic paraplegia (HSP) is a neurodegenerative condition defined clinically by lower limb spasticity and weakness. Homozygous mutations in CYP7B1 have been identified in several consanguineous families that represented HSP type 5 (SPG5), one of the many genetic forms of the disease. We used direct sequencing and multiplex ligation-dependent probe amplification to screen for CYP7B1 alterations in apparently sporadic HSP patients (n = 12) as well as index patients from non-consanguineous families with recessive (n = 8) and dominant (n = 8) transmission of HSP. One sporadic patient showing HSP as well as optic atrophy carried a homozygous nonsense mutation. Compound heterozygosity was observed in a recessive family with a clinically pure phenotype. A heterozygous missense change segregated in a small dominant family. We also found a significant association of a known coding polymorphism with cerebellar signs complicating a primary HSP phenotype. Our findings suggest CYP7B1 alterations to represent a rather frequent cause of HSP that should be considered in patients with various clinical presentations. PMID:18855023

Schüle, Rebecca; Brandt, Elisabeth; Karle, Kathrin N; Tsaousidou, Maria; Klebe, Stephan; Klimpe, Sven; Auer-Grumbach, Michaela; Crosby, Andrew H; Hübner, Christian A; Schöls, Ludger; Deufel, Thomas; Beetz, Christian



Severe adhesive arachnoiditis resulting in progressive paraplegia following obstetric spinal anaesthesia: a case report and review.  


A 27-year-old woman developed severe adhesive arachnoiditis after an obstetric spinal anaesthetic with bupivacaine and fentanyl, complicated by back pain and headache. No other precipitating cause could be identified. She presented one week postpartum with communicating hydrocephalus and syringomyelia and underwent ventriculoperitoneal shunting and foramen magnum decompression. Two months later, she developed rapid, progressive paraplegia and sphincter dysfunction. Attempted treatments included exploratory laminectomy, external drainage of the syrinx and intravenous steroids, but these were unsuccessful and the patient remains significantly disabled 21 months later. We discuss the pathophysiology of adhesive arachnoiditis following central neuraxial anaesthesia and possible causative factors, including contamination of the injectate, intrathecal blood and local anaesthetic neurotoxicity, with reference to other published cases. In the absence of more conclusive data, practitioners of central neuraxial anaesthesia can only continue to ensure meticulous, aseptic, atraumatic technique and avoid all potential sources of contamination. It seems appropriate to discuss with patients the possibility of delayed, permanent neurological deficit while taking informed consent. PMID:23061983

Killeen, T; Kamat, A; Walsh, D; Parker, A; Aliashkevich, A



Pathogenesis of Autosomal Dominant Hereditary Spastic Paraplegia (SPG6) Revealed by a Rat Model.  


Hereditary spastic paraplegias (HSPs) are characterized by progressive spasticity and weakness in the lower extremities that result from length-dependent central to peripheral axonal degeneration. Mutations in the non-imprinted Prader-Willi/Angelman syndrome locus 1 (NIPA1) transmembrane protein cause an autosomal dominant form of HSP (SPG6). Here, we report that transgenic (Tg) rats expressing a human NIPA1/SPG6 mutation in neurons (Thy1.2-hNIPA1) show marked early onset behavioral and electrophysiologic abnormalities. Detailed morphologic analyses reveal unique histopathologic findings, including the accumulation of tubulovesicular organelles with endosomal features that start at axonal and dendritic terminals, followed by multifocal vacuolar degeneration in both the CNS and peripheral nerves. In addition, the NIPA1 mutation in the spinal cord from older Tg rats results in an increase in bone morphogenetic protein type II receptor expression, suggesting that its degradation is impaired. This Thy1.2-hNIPA1 Tg rat model may serve as a valuable tool for understanding endosomal trafficking in the pathogenesis of a subgroup of HSP with an abnormal interaction with bone morphogenetic protein type II receptor, as well as for developing potential therapeutic strategies for diseases with axonal degeneration and similar pathogenetic mechanisms. PMID:24128679

Watanabe, Fumihiro; Arnold, William D; Hammer, Robert E; Ghodsizadeh, Odelia; Moti, Harmeet; Schumer, Mackenzie; Hashmi, Ahmed; Hernandez, Anthony; Sneh, Amita; Sahenk, Zarife; Kisanuki, Yaz Y



[Ischemic-reperfusion paraplegia in the dog and its light microscopy imaging].  


Paraplegia, which develops after operation on aorta, represents a real catastrophe for the patient and for the surgeon. The aim of the present work was to investigate the light microscopy picture of this complication and consequently better understand related processes. Twenty one adult dogs, cross breeds of both sexes, weight 18-25 kg, were divided into four groups: 1. Controls (n = 3); 2.30-min ischemia induced by occlusion of thoracic aorta by a tourniquet, followed for 30 min survival (n = 6); 3.30-min ischemia and 72 h of survival (n = 6); 4) 30-min ischemia and 6 days of survival (n = 6). All these manipulations were made in sterile conditions under general anesthesia. As soon as the planned time of survival passed, the animals were flushed out, in deep pentobarbital anesthesia, with 3,000 ml of sodium chloride and fixed with 3,000 ml of 10% neutral formaldehyde. Sections, 30 microns thick, from L3-S1 medulla segments were processed in the laboratory of Neurobiological Institute by the method of Nauta for light microscopy examination. Neurohistological picture was characterized by a marked damage of the medulla neurons. The changes proved to be irreversible and resulted, in the course of six days of survival, to death of the cells, characterized by their disintegration. The results indicate that the only rational procedure in conditions of threatening ischemic-reperfusion injury of medulla is to prevent it. PMID:15085724

Sulla, I; Marsala, J; Radonák, J



Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.  


We describe the clinical and genetic features of a well-characterized cohort of patients with autosomal recessive hereditary spastic paraplegia (ARHSP) in the province of Ontario. Patients with documented corticospinal tract abnormalities were screened by whole gene sequencing and multiplex ligation probe amplification for mutations in nine genes known to cause ARHSP. Of a cohort of 39 patients, a genetic diagnosis was established in 17 (44 %) and heterozygous mutations were detected in 8 (21 %). Mutations were most frequent in SPG7 (12 patients), followed by SPG11 (10 patients), PNPLA6 (SPG39, 2 patients), and ZFYVE26 (SPG15, 2 patients). Although there are associations between some clinical manifestations of ARHSP and specific genes, many patients are tested at an early stage of the disease when phenotype/genotype correlations are not obvious. Accurate molecular characterization of well-phenotyped cohorts of patients will be essential to establishing the natural history of these rare degenerative disorders to enable future clinical trials. PMID:23733235

Yoon, G; Baskin, B; Tarnopolsky, M; Boycott, K M; Geraghty, M T; Sell, E; Goobie, S; Meschino, W; Banwell, B; Ray, P N



Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12.  


We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we identified another NBIA patient with a three-nucleotide deletion (c.197_199del; p.Gly66del). Haplotype analysis revealed that the p.Ala63Pro mutations have a common origin, but MRI scans showed no brain iron deposition in the Malian SPG43 subjects. Heterologous expression of these SPG43 and NBIA variants resulted in similar alterations in the subcellular distribution of C19orf12. The SPG43 and NBIA variants reported here as well as the most common C19orf12 missense mutation reported in NBIA patients are found within a highly conserved, extended hydrophobic domain in C19orf12, underscoring the functional importance of this domain. PMID:23857908

Landouré, Guida; Zhu, Peng-Peng; Lourenço, Charles M; Johnson, Janel O; Toro, Camilo; Bricceno, Katherine V; Rinaldi, Carlo; Meilleur, Katherine G; Sangaré, Modibo; Diallo, Oumarou; Pierson, Tyler M; Ishiura, Hiroyuki; Tsuji, Shoji; Hein, Nichole; Fink, John K; Stoll, Marion; Nicholson, Garth; Gonzalez, Michael A; Speziani, Fiorella; Dürr, Alexandra; Stevanin, Giovanni; Biesecker, Leslie G; Accardi, John; Landis, Dennis M D; Gahl, William A; Traynor, Bryan J; Marques, Wilson; Züchner, Stephan; Blackstone, Craig; Fischbeck, Kenneth H; Burnett, Barrington G



Assessment of the Talk Test and Rating of Perceived Exertion for Exercise Intensity Prescription in Persons With Paraplegia  

PubMed Central

Background: Physical activity recommendations require accurate estimations of exercise intensity. Rating of Perceived Exertion (RPE) and talk test (TT) are 2 commonly recommended techniques to gauge intensity. It is not known whether these are valid to select an exercise intensity that would elicit a training effect for persons with spinal cord injury (SCI). Objective: To define the exercise intensity of each TT stage and RPE exercise intensity category and assess whether persons with paraplegia are able to use the TT to select a “comfortable” exercise workload they could maintain for 15 minutes. Methods: Twelve participants with paraplegia completed 2 arm crank exercise tests on nonconsecutive days within 14 days. Test 1 was an incremental peak effort assessment. Test 2 was a 15-minute simulated exercise session at a participant-selected fixed workload. During each test, participants reported their RPE and performed a TT at 2-minute intervals. Results: The intensity of the first negative TT stage was vigorous (75 ± 15 %VO2R); at low and moderate intensities, perceived effort was greater than measured intensity; at vigorous and maximal intensities, perceived effort matched measured intensity. Individuals successfully used the TT to select an exercise workload they could maintain for 15 minutes. RPE, but not exercise intensity, increased during the 15-minute session. Conclusions: During arm crank exercise when speaking is not comfortable (ie, first negative TT), persons with paraplegia are exercising at vigorous intensity, which is sufficient to elicit training effects. During incremental peak exercise testing, RPE does not appear to accurately index low-moderate exercise intensities. During the simulated exercise session, RPE appeared to index peripheral fatigue.

Cowan, Rachel E.; Ginnity, Kelly L.; Kressler, Jochen; Nash, Mark S.; Nash, Mark S.



Paraplegia complicating selective steroid injections of the lumbar spine. Report of five cases and review of the literature  

Microsoft Academic Search

Background  Selective steroid injections of the lumbar spine carry a risk of paraplegia of sudden onset. Seven cases have been reported\\u000a in the English literature since 2002.\\u000a \\u000a \\u000a \\u000a Materials and methods  Five new cases have been analyzed, all coming from Paris area centers. Injections were performed between 2003 and 2008. The\\u000a following items were searched for: location of a previous lumbar spine surgery

Marc Wybier; Sandrine Gaudart; David Petrover; Emmanuel Houdart; Jean-Denis Laredo



Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.  


We report a third mutation of the proteolipid protein gene in male Japanese patients with X-linked spastic paraplegia. Although the proteolipid protein gene encodes two myelin proteins, proteolipid protein and DM 20, our W144X mutation resides in the latter part of exon 3 (exon 3B), which is spliced out in DM 20. This mutation may reserve the function of DM 20. Findings in our patients support that this form of spastic paraplesia is allelic to Pelizaeus-Merzbacher disease and that the mild clinical phenotype of this disorder may be related to a mutation within exon 3B of the PLP gene. PMID:7488049

Osaka, H; Kawanishi, C; Inoue, K; Uesugi, H; Hiroshi, K; Nishiyama, K; Yamada, Y; Suzuki, K; Kimura, S; Kosaka, K



Quantitative and Functional Analyses of Spastin in the Nervous System: Implications for Hereditary Spastic Paraplegia  

PubMed Central

Spastin and P60-katanin are two distinct microtubule-severing proteins. Autosomal dominant mutations in the SPG4 locus corresponding to spastin are the most common cause of hereditary spastic paraplegia (HSP), a neurodegenerative disease that afflicts the adult corticospinal tracts. Here we sought to evaluate whether SPG4-based HSP is best understood as a “loss-of-function” disease. Using various rat tissues, we found that P60-katanin levels are much higher than spastin levels during development. In the adult, P60-katanin levels plunge dramatically but spastin levels decline only slightly. Quantitative data of spastin expression in specific regions of the nervous system failed to reveal any obvious explanation for the selective sensitivity of adult corticospinal tracts to loss of spastin activity. An alternative explanation relates to the fact that the mammalian spastin gene has two start codons, resulting in a 616 amino acid protein called M1 and a slightly shorter protein called M85. We found that M1 is almost absent from developing neurons and most adult neurons but comprises 20 –25% of the spastin in the adult spinal cord, the location of the axons that degenerate during HSP. Experimental expression in cultured neurons of a short dysfunctional M1 polypeptide (but not a short dysfunctional M85 peptide) is deleterious to normal axonal growth. In squid axoplasm, the M1 peptide dramatically inhibits fast axonal transport, whereas the M85 peptide does not. These results are consistent with a “gain-of-function” mechanism underlying HSP wherein spastin mutations produce a cytotoxic protein in the case of M1 but not M85.

Solowska, Joanna M.; Morfini, Gerardo; Falnikar, Aditi; Himes, B. Timothy; Brady, Scott T.; Huang, Dongyang; Baas, Peter W.



Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.  


Molecular characterization is important for an accurate diagnosis in hereditary spastic paraplegia (HSP). Mutations in the gene SPAST (SPG4) are the most common cause of autosomal dominant forms. We performed targeted next generation sequencing (NGS) in a SPAST-negative HSP sample. Forty-four consecutive HSP patients were recruited from an adult neurogenetics clinic in Sydney, Australia. SPAST mutations were confirmed in 17 subjects, and therefore 27 SPAST-negative patients were entered into this study. Patients were screened according to mode of inheritance using a PCR-based library and NGS (Roche Junior 454 sequencing platform). The screening panel included ten autosomal dominant (AD) and nine autosomal recessive (AR) HSP-causing genes. A genetic cause for HSP was identified in 25.9 % (7/27) of patients, including 1/12 classified as AD and 6/15 as AR or sporadic inheritance. Several forms of HSP were identified, including one patient with SPG31, four with SPG7 (with one novel SPG7 mutation) and two with SPG5 (including two novel CYP7B1 frameshift mutations). Additional clinical features were noted, including optic atrophy and ataxia for patients with SPG5 and ataxia and a chronic progressive external ophthalmoplegia-like phenotype for SPG7. This protocol enabled the identification of a genetic cause in approximately 25 % of patients in whom one of the most common genetic forms of HSP (SPG4) was excluded. Targeted NGS may be a useful method to screen for mutations in multiple genes associated with HSP. More studies are warranted to determine the optimal approach to achieve a genetic diagnosis in this condition. PMID:23812641

Kumar, Kishore R; Blair, Nicholas F; Vandebona, Himesha; Liang, Christina; Ng, Karl; Sharpe, David M; Grünewald, Anne; Gölnitz, Uta; Saviouk, Viatcheslav; Rolfs, Arndt; Klein, Christine; Sue, Carolyn M



Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12  

PubMed Central

Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic paralysis of the legs as a result of selective, length-dependent degeneration of the axons of the corticospinal tract. Mutations in 3 genes encoding proteins that work together to shape the ER into sheets and tubules — receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) — have been found to underlie many cases of HSP in Northern Europe and North America. Applying Sanger and exome sequencing, we have now identified 3 mutations in reticulon 2 (RTN2), which encodes a member of the reticulon family of prototypic ER-shaping proteins, in families with spastic paraplegia 12 (SPG12). These autosomal dominant mutations included a complete deletion of RTN2 and a frameshift mutation predicted to produce a highly truncated protein. Wild-type reticulon 2, but not the truncated protein potentially encoded by the frameshift allele, localized to the ER. RTN2 interacted with spastin, and this interaction required a hydrophobic region in spastin that is involved in ER localization and that is predicted to form a curvature-inducing/sensing hairpin loop domain. Our results directly implicate a reticulon protein in axonopathy, show that this protein participates in a network of interactions among HSP proteins involved in ER shaping, and further support the hypothesis that abnormal ER morphogenesis is a pathogenic mechanism in HSP.

Montenegro, Gladys; Rebelo, Adriana P.; Connell, James; Allison, Rachel; Babalini, Carla; D'Aloia, Michela; Montieri, Pasqua; Schule, Rebecca; Ishiura, Hiroyuki; Price, Justin; Strickland, Alleene; Gonzalez, Michael A.; Baumbach-Reardon, Lisa; Deconinck, Tine; Huang, Jia; Bernardi, Giorgio; Vance, Jeffery M.; Rogers, Mark T.; Tsuji, Shoji; De Jonghe, Peter; Pericak-Vance, Margaret A.; Schols, Ludger; Orlacchio, Antonio; Reid, Evan; Zuchner, Stephan



Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.  


Spastic paraplegia type 5 (SPG5) is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-?-hydroxylase, CYP7B1, an enzyme implicated in the cholesterol metabolism. Mutations in CYP7B1 were found in both pure and complicated forms of the disease with a mutation frequency of 7.7% in pure recessive cases. The mutation frequency in complex forms, approximately 6.6%, is more controversial and needs to be refined. We studied in more detail the SPG5-related spectrum of complex phenotypes by screening CYPB1 for mutations in a large cohort of 105 Italian hereditary spastic paraplegias (HSPs) index patients including 50 patients with a complicated HSP (cHSP) phenotype overlapping the SPG11- and the SPG15-related forms except for the lack of thin corpus callosum and 55 pure patients. Five CYP7B1 mutations, three of which are novel, were identified in four patients, two with a complex form of the disease and two with a pure phenotype. The CYP7B1 mutation frequencies obtained in both complicated and pure familial cases are comparable to the known ones. These results obtained extend the range of SPG5-related phenotypes and reveal variability in clinical presentation, disease course and functional profile in the SPG5-related patients while providing with some clues for molecular diagnosis in cHSP. PMID:21214876

Arnoldi, A; Crimella, C; Tenderini, E; Martinuzzi, A; D'Angelo, M G; Musumeci, O; Toscano, A; Scarlato, M; Fantin, M; Bresolin, N; Bassi, M T



Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.  


Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to cosegregate with the disease and were absent in controls. GBA2 encodes a microsomal nonlysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide and the hydrolysis of bile acid 3-O-glucosides. The missense variant was also found at the homozygous state in a simplex subject in whom no residual glucocerebrosidase activity of GBA2 could be evidenced in blood cells, opening the way to a possible measurement of this enzyme activity in clinical practice. The overall phenotype was a complex HSP with mental impairment, cataract, and hypogonadism in males associated with various degrees of corpus callosum and cerebellar atrophy on brain imaging. Antisense morpholino oligonucleotides targeting the zebrafish GBA2 orthologous gene led to abnormal motor behavior and axonal shortening/branching of motoneurons that were rescued by the human wild-type mRNA but not by applying the same mRNA containing the missense mutation. This study highlights the role of ceramide metabolism in HSP pathology. PMID:23332916

Martin, Elodie; Schüle, Rebecca; Smets, Katrien; Rastetter, Agnès; Boukhris, Amir; Loureiro, José L; Gonzalez, Michael A; Mundwiller, Emeline; Deconinck, Tine; Wessner, Marc; Jornea, Ludmila; Oteyza, Andrés Caballero; Durr, Alexandra; Martin, Jean-Jacques; Schöls, Ludger; Mhiri, Chokri; Lamari, Foudil; Züchner, Stephan; De Jonghe, Peter; Kabashi, Edor; Brice, Alexis; Stevanin, Giovanni



Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.  


We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellular phospholipases A(1) (iPLA(1)). The core phenotype of this HSP syndrome consists of very early-onset (<2 years) spastic paraplegia, intellectual disability, and a specific pattern of brain abnormalities on cerebral imaging. An essential role for DDHD2 in the human CNS, and perhaps more specifically in synaptic functioning, is supported by a reduced number of active zones at synaptic terminals in Ddhd-knockdown Drosophila models. All identified mutations affect the protein's DDHD domain, which is vital for its phospholipase activity. In line with the function of DDHD2 in lipid metabolism and its role in the CNS, an abnormal lipid peak indicating accumulation of lipids was detected with cerebral magnetic resonance spectroscopy, which provides an applicable diagnostic biomarker that can distinguish the DDHD2 phenotype from other complex HSP phenotypes. We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease. PMID:23176823

Schuurs-Hoeijmakers, Janneke H M; Geraghty, Michael T; Kamsteeg, Erik-Jan; Ben-Salem, Salma; de Bot, Susanne T; Nijhof, Bonnie; van de Vondervoort, Ilse I G M; van der Graaf, Marinette; Nobau, Anna Castells; Otte-Höller, Irene; Vermeer, Sascha; Smith, Amanda C; Humphreys, Peter; Schwartzentruber, Jeremy; Ali, Bassam R; Al-Yahyaee, Saeed A; Tariq, Said; Pramathan, Thachillath; Bayoumi, Riad; Kremer, Hubertus P H; van de Warrenburg, Bart P; van den Akker, Willem M R; Gilissen, Christian; Veltman, Joris A; Janssen, Irene M; Vulto-van Silfhout, Anneke T; van der Velde-Visser, Saskia; Lefeber, Dirk J; Diekstra, Adinda; Erasmus, Corrie E; Willemsen, Michèl A; Vissers, Lisenka E L M; Lammens, Martin; van Bokhoven, Hans; Brunner, Han G; Wevers, Ron A; Schenck, Annette; Al-Gazali, Lihadh; de Vries, Bert B A; de Brouwer, Arjan P M



A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree  

Microsoft Academic Search

SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). SPG4 HSP is characterized by large inter- and intrafamilial variability in age at onset (AAO) and disease severity. The broad spectrum of SPG4 mutations has recently been further extended by the finding of large genomic deletions in SPG4-linked pedigrees negative for ‘small’ mutations. We had previously reported

Miguel Mitne-Neto; Fernando Kok; Christian Beetz; André Pessoa; Clarissa Bueno; Zodja Graciani; Marcilia Martyn; Carlos B M Monteiro; Guilherme Mitne; Paulo Hubert; Anders O H Nygren; Marcos Valadares; Antonia M P Cerqueira; Alessandra Starling; Thomas Deufel; Mayana Zatz



A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3  

Microsoft Academic Search

Hereditary spastic paraplegias (HSPs) are genetically and phenotypically heterogeneous. Both “uncomplicated” and “complicated”\\u000a forms have been described, with autosomal dominant, autosomal recessive, and X-linked inheritance. Hitherto, ten autosomal\\u000a dominant “uncomplicated” HSP (ADHSP) loci have been mapped. Here, we report linkage of ADHSP with markers of the 8p21.1-q13.3\\u000a chromosomal region in a large French family, including 29 examined at-risk individuals. The

Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin



Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clincal review with six additional families  

SciTech Connect

X-linked hydrocephalus (HSAS) (MIM{sup *}307000), MASA syndrome (MIM {sup *}303350), and complicated spastic paraplegia (SPG1) (MIM {sup *}3129000) are closely related. Soon after delineation, SPG1 was incorporated into the spectrum of MASA syndrome. HSAS and MASA syndrome show great clinical overlap; DNA linkage analysis places the loci at Xq28. In an increasing number of families with MASA syndrome or HSAS, mutations in L1CAM, a gene located at Xq28, have been reported. In order to further delineate the clinical spectrum, we studied 6 families with male patients presenting with MASA syndrome, HSAS, or a mixed phenotype. We summarized data from previous reports and compared them with our data. Clinical variability appears to be great, even within families. Problems in genetic counseling and prenatal diagnosis, the possible overlap with X-linked corpus callosum agenesis and FG syndrome, and the different forms of X-linked complicated spastic paraplegia are discussed. Since adducted thumbs and spastic paraplegia are found in 90% of the patients, the condition may be present in males with nonspecific mental retardation. We propose to abandon the designation MASA syndrome and use the term HSAS/MASA spectrum, incorporating SPG1. 79 refs., 6 figs., 2 tabs.

Schrander-Stumpel, C.; Hoeweler, C. [Univ. of Limburg (Netherlands); Jones, M. [Children`s Hospital, Sandiego, CA (United States)] [and others



An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia  

PubMed Central

In this study we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Since ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a generalizable clinical diagnostic tool by assessing the targeting efficiency and sequencing-coverage of 88 genes associated with muscle disease (MD) and spastic paraplegia (SPG). We used three exome-capture kits on 125 individuals. Exons constituting each gene were defined using the UCSC and CCDS databases. The three exome-capture kits targeted 47–92% of bases within the UCSC-defined exons, and 97%–99% of bases within the CCDS-defined exons. An average of 61.2–99.5% and 19.1–99.5% of targeted bases per gene were sequenced to 20X coverage within the CCDS-defined MD and SPG coding exons, respectively. Greater than 95–99% of targeted known mutation positions were sequenced to ?1X coverage and 55–87% to ?20X coverage in every exome. We conclude therefore that ES is a rapid and efficient first tier method to screen for mutations, particularly within the CCDS annotated exons, although its application requires disclosure of the extent of coverage for each targeted gene and supplementation with second tier Sanger sequencing for full coverage.

Dias, Cristina; Sincan, Murat; Cherukuri, Praveen F.; Rupps, Rosemarie; Huang, Yan; Briemberg, Hannah; Selby, Kathryn; Mullikin, James C.; Markello, Thomas C.; Adams, David R.; Gahl, William A.; Boerkoel, Cornelius F.



Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia.  


The adaptor proteins (APs) are a family of five heterotetrameric complexes with important functions in vesicle trafficking. While the roles of APs 1-3 are broadly established, comparatively little is known about AP-4 and AP-5. Current evidence suggests that AP-4 mediates TGN to endosome transport of specific cargo proteins, such as the amyloid precursor protein APP, and that it is involved in basolateral sorting in polarized cells. Furthermore, several independent studies have reported human patients with mutations in AP-4 genes. AP-4 deficiency causes severe intellectual disability and progressive spastic para- or tetraplegia, supporting an important role for AP-4 in brain function and development. The newly discovered AP-5 complex appears to be involved in endosomal dynamics; its precise localization and function are still unclear. Intriguingly, AP-5 deficiency is also associated with progressive spastic paraplegia, suggesting that AP-5, like AP-4, plays a fundamental role in neuronal development and homeostasis. The unexpected phenotypic parallels between AP-4 and AP-5 patients may in turn suggest a functional relationship of the two APs in vesicle trafficking. PMID:23167973

Hirst, Jennifer; Irving, Carol; Borner, Georg H H



Endogenous spar tin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons  

SciTech Connect

Mutation of spartin (SPG20) underlies a complicated form of hereditary spastic paraplegia, a disorder principally defined by the degeneration of upper motor neurons. Using a polyclonal antibody against spartin to gain insight into the function of the endogenous molecule, we show that the endogenous molecule is present in two main isoforms of 85 kDa and 100 kDa, and 75 kDa and 85 kDa in human and murine, respectively, with restricted subcellular localization. Immunohistochemical studies on human and mouse embryo sections and in vitro cell studies indicate that spartin is likely to possess both nuclear and cytoplasmic functions. The nuclear expression of spartin closely mirrors that of the snRNP (small nuclear ribonucleoprotein) marker {alpha}-Sm, a component of the spliceosome. Spartin is also enriched at the centrosome within mitotic structures. Notably we show that spartin protein undergoes dynamic positional changes in differentiating human SH-SY5Y cells. In undifferentiated non-neuronal cells, spartin displays a nuclear and diffuse cytosolic profile, whereas spartin transiently accumulates in the trans-Golgi network and subsequently decorates discrete puncta along neurites in terminally differentiated neuroblastic cells. Investigation of these spartin-positive vesicles reveals that a large proportion colocalizes with the synaptic vesicle marker synaptotagmin. Spartin is also enriched in synaptic-like structures and in synaptic vesicle-enriched fraction.

Robay, Dimitri [Medical Genetics, St. George's, University of London, Cranmer Terrace, London SW17 0RE (United Kingdom); Patel, Heema [Medical Genetics, St. George's, University of London, Cranmer Terrace, London SW17 0RE (United Kingdom); Simpson, Michael A. [Medical Genetics, St. George's, University of London, Cranmer Terrace, London SW17 0RE (United Kingdom); Brown, Nigel A. [Basic Medical Sciences, St. George's, University of London, Cranmer Terrace, London SW17 0RE (United Kingdom); Crosby, Andrew H. [Medical Genetics, St. George's, University of London, Cranmer Terrace, London SW17 0RE (United Kingdom)]. E-mail:



Emergency Closed Reduction of a C4/5 Fracture Dislocation with Complete Paraplegia Resulting in Profound Neurologic Recovery  

PubMed Central

Introduction. Cervical spinal cord injuries due to traumatic fractures are associated with persistent neurological deficits. Although clinical evidence is weak, early decompression, defined as <24–72?h, has been frequently proposed. Animal studies show better outcomes after early decompression within one hour or less, which can hardly ever be achieved in clinical practice. Case Presentation. A 37-year-old patient was hospitalized after being hit by a shying horse. After diagnosis of C4/5 fracture dislocation and complete paraplegia, she was intubated and sedated with deep relaxation. Emergency reduction was performed at approximately 120 minutes after trauma. Subsequently, a standard anterior decompression, discectomy, and fusion were carried out. She was then transferred to a specialized rehabilitation hospital. Her neurologic function improved from AIS grade A on admission to grade B postoperatively and grade D after four months of rehabilitation. One year after the accident, she was ambulatory without walking aids and restarted horse riding. Discussion and Conclusion. Rarely in clinical practice, decompression of the spine canal can be performed as early as in this case. This case highlights the potential benefit of utmost early reduction in cervical fracture dislocations with compression of the spinal cord.

Muller, Christian W.; Decker, Sebastian; Thietje, Roland; Krettek, Christian



Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine  

PubMed Central

Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases characterized by progressive weakness and spasticity of the lower limbs. Dominant mutations in the human SPG4 gene, encoding spastin, are responsible for the most frequent form of HSP. Spastin is an ATPase that binds microtubules and localizes to the spindle pole and distal axon in mammalian cell lines. Furthermore, its Drosophila homolog, Drosophila spastin (Dspastin), has been recently shown to regulate microtubule stability and synaptic function at the Drosophila larval neuromuscular junction. Here we report the generation of a spastin-linked HSP animal model and show that in Drosophila, neural knockdown of Dspastin and, conversely, neural overexpression of Dspastin containing a conserved pathogenic mutation both recapitulate some phenotypic aspects of the human disease, including adult onset, locomotor impairment, and neurodegeneration. At the subcellular level, neuronal expression of both Dspastin RNA interference and mutant Dspastin cause an excessive stabilization of microtubules in the neuromuscular junction synapse. In addition, we provide evidence that administration of the microtubule targeting drug vinblastine significantly attenuates these phenotypes in vivo. Our findings demonstrate that loss of spastin function elicits HSP-like phenotypes in Drosophila, provide novel insights into the molecular mechanism of spastin mutations, and raise the possibility that therapy with Vinca alkaloids may be efficacious in spastin-associated HSP and other disorders related to microtubule dysfunction.

Orso, Genny; Martinuzzi, Andrea; Rossetto, Maria Giovanna; Sartori, Elena; Feany, Mel; Daga, Andrea



An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.  


In this study, we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Because ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a generalizable clinical diagnostic tool by assessing the targeting efficiency and sequencing coverage of 88 genes associated with muscle disease (MD) and spastic paraplegia (SPG). We used three exome-capture kits on 125 individuals. Exons constituting each gene were defined using the UCSC and CCDS databases. The three exome-capture kits targeted 47-92% of bases within the UCSC-defined exons and 97-99% of bases within the CCDS-defined exons. An average of 61.2-99.5% and 19.1-99.5% of targeted bases per gene were sequenced to 20X coverage within the CCDS-defined MD and SPG coding exons, respectively. Greater than 95-99% of targeted known mutation positions were sequenced to ?1X coverage and 55-87% to ?20X coverage in every exome. We conclude, therefore, that ES is a rapid and efficient first-tier method to screen for mutations, particularly within the CCDS annotated exons, although its application requires disclosure of the extent of coverage for each targeted gene and supplementation with second-tier Sanger sequencing for full coverage. PMID:22311686

Dias, Cristina; Sincan, Murat; Cherukuri, Praveen F; Rupps, Rosemarie; Huang, Yan; Briemberg, Hannah; Selby, Kathryn; Mullikin, James C; Markello, Thomas C; Adams, David R; Gahl, William A; Boerkoel, Cornelius F



Comparative modeling of 25-hydroxycholesterol-7?-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations  

Microsoft Academic Search

CYP7B1 mutations have been linked directly with the neurodegenerative disease hereditary spastic paraplegia (HSP), with mutations\\u000a in the CYP7B1 gene identified as being directly responsible for autosomal recessive HSP type 5A (SPG5). To evaluate the potential\\u000a impact of CYP7B1 mutations identified in SPG5 on binding and protein function, a comparative model of cytochrome P450 7B1\\u000a (CYP7B1) was constructed using human

Afraa Siam; Andrea Brancale; Claire Simons


Paraplegia in unstable thoracolumbar injuries. A study of conservative and operative treatment regarding neurological improvement and rehabilitation.  


Thirty-seven patients with unstable thoracolumbar fractures and paraplegia were studied: 11 patients were given exclusively conservative treatment, 14 patients were treated conservatively after laminectomy with or without fusion, and 12 patients were treated with Harrington instrumentation. None of the 12 cases with complete paraparesis at admission to the hospital improved their neurological status. In patients with moderate and severe but not complete paraparesis one month after injury, the neurological improvement continued for several years and in many the neurological restitution was complete. There was no difference between the three treatment groups regarding the neurological improvement. A new Rehabilitation Index was constructed with special reference to paraplegic patients. One month after the injury the Rehabilitation Score in the Harrington group was considerably higher than in the other groups. After three months the score was equalized in the conservatively treated group and the Harrington group whereas the score of the laminectomy-fusion group remained lower as long as two years after injury. Thirty-two patients were followed-up two years after the injury. Irrespective of the treatment, 30 of 32 patients had reached their maximal ADL scores at the follow-up. In 19 patients the bladder function was satisfactory. Eleven patients could walk independently. Twelve patients used wheel-chairs. Twenty-eight patients managed outdoor transportation without help. Twenty-four patients (75 per cent) had returned to work. Complaints about back deformity, skin problems and pain at direct pressure over the fracture site were significantly more frequent in the conservative and laminectomy-fusion groups. The treatment with open reduction, fusion and stabilization with Harrington rods considerably reduced the immobilization and hospitalization time. The complications were few. - The Harrington operation resulted in an early rehabilitation, which is of great psychological importance for the patient. - Our study confirms the disadvantages of laminectomy followed by conservative treatment reported by other authors. PMID:6585941

Willén, J; Dahllöf, A G; Nordwall, A



Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature  

PubMed Central

Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who were from three consanguineous families and presented with severe intellectual disability, absent speech, shy character, stereotypic laughter, muscular hypotonia that progressed to spastic paraplegia, microcephaly, foot deformity, decreased muscle mass of the lower limbs, inability to walk, and growth retardation. Using a combination of autozygosity mapping and either Sanger sequencing of candidate genes or next-generation exome sequencing, we identified one mutation in each of three genes encoding adaptor protein complex 4 (AP4) subunits: a nonsense mutation in AP4S1 (NM_007077.3: c.124C>T, p.Arg42?), a frameshift mutation in AP4B1 (NM_006594.2: c.487_488insTAT, p.Glu163_Ser739delinsVal), and a splice mutation in AP4E1 (NM_007347.3: c.542+1_542+4delGTAA, r.421_542del, p.Glu181Glyfs?20). Adaptor protein complexes (AP1-4) are ubiquitously expressed, evolutionarily conserved heterotetrameric complexes that mediate different types of vesicle formation and the selection of cargo molecules for inclusion into these vesicles. Interestingly, two mutations affecting AP4M1 and AP4E1 have recently been found to cause cerebral palsy associated with severe intellectual disability. Combined with previous observations, these results support the hypothesis that AP4-complex-mediated trafficking plays a crucial role in brain development and functioning and demonstrate the existence of a clinically recognizable syndrome due to deficiency of the AP4 complex.

Abou Jamra, Rami; Philippe, Orianne; Raas-Rothschild, Annick; Eck, Sebastian H.; Graf, Elisabeth; Buchert, Rebecca; Borck, Guntram; Ekici, Arif; Brockschmidt, Felix F.; Nothen, Markus M.; Munnich, Arnold; Strom, Tim M.; Reis, Andre; Colleaux, Laurence



Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.  


Spastic paraplegia type 10 (SPG10) is an autosomal dominant form of hereditary spastic paraplegia (HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy chain implicated in anterograde axonal transport. KIF5A mutations were found in both pure and complicated forms of the disease; a single KIF5A mutation was also detected in a CMT2 patient belonging to an SPG10 mutant family. To confirm the involvement of the KIF5A gene in both CMT2 and SPG10 phenotypes and to define the frequency of KIF5A mutations in an Italian HSP patient population, we performed a genetic screening of this gene in a series of 139 HSP and 36 CMT2 affected subjects. We identified five missense changes, four in five HSP patients and one in a CMT2 subject. All mutations, including the one segregating in the CMT2 patient, are localized in the kinesin motor domain except for one, falling within the stalk domain and predicted to generate protein structure destabilization. The results obtained indicate a KIF5A mutation frequency of 8.8% in the Italian HSP population and identify a region of the kinesin protein, the stalk domain, as a novel target for mutation. In addition, the mutation found in the CMT2 patient strengthens the hypothesis that CMT2 and SPG10 are the extreme phenotypes resulting from mutations in the same gene. PMID:21623771

Crimella, C; Baschirotto, C; Arnoldi, A; Tonelli, A; Tenderini, E; Airoldi, G; Martinuzzi, A; Trabacca, A; Losito, L; Scarlato, M; Benedetti, S; Scarpini, E; Spinicci, G; Bresolin, N; Bassi, M T



Tetraplegia or paraplegia with brachial diparesis? What is the most appropriate designation for the motor deficit in patients with lower cervical spinal cord injury?  


The authors seek to clarify the nomenclature used to describe cervical spinal cord injuries, particularly the use of the terms "tetraplegia", "quadriplegia", "quadriparesis", "tetraparesis", "incomplete quadriplegia" or "incomplete tetraplegia" when applied to patients with lower cervical cord injuries. A review of the origin of the terms and nomenclature used currently to describe the neurological status of patients with SCI in the literature was performed. The terms "tetraplegia", "quadriplegia", "quadriparesis", "tetraparesis", "incomplete quadriplegia" or "incomplete tetraplegia" have been used very often to describe patients with complete lower cervical SCI despite the fact that the clinical scenario is all the same for most of these patients. Most of these patients have total loss of the motor voluntary movements of their lower trunk and inferior limbs, and partial impairment of movement of their superior limbs, preserving many motor functions of the proximal muscles of their arms (superior limbs). A potentially better descriptive term may be "paraplegia with brachial diparesis". In using the most appropriate terminology, the patients with lower cervical SCI currently referred as presenting with "tetraplegia", "quadriplegia", "quadriparesis", "tetraparesis", "incomplete quadriplegia" or "incomplete tetraplegia", might be better described as having "paraplegia with brachial diparesis". PMID:22825074

Figueiredo, Nicandro; Figueiredo, Iara Eberhard; Resnick, Daniel



A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease  

PubMed Central

We report identical twins with intellectual disability, progressive spastic paraplegia and short stature, born to a consanguineous family. Intriguingly, both children presented with lymphadenitis caused by the live Bacillus Calmette-Guérin (BCG) vaccine. Two syndromes – hereditary spastic paraplegia (HSP) and mycobacterial disease – thus occurred simultaneously. Whole-exome sequencing (WES) revealed a homozygous nonsense mutation (p.R1105X) of the AP4E1 gene, which was confirmed by Sanger sequencing. The p.R1105X mutation has no effect on AP4E1 mRNA levels, but results in lower levels of AP-4? protein and of the other components of the AP-4 complex, as shown by western blotting, immunoprecipitation and immunofluorescence. Thus, the C-terminal part of the AP-4? subunit plays an important role in maintaining the integrity of the AP-4 complex. No abnormalities of the IL-12/IFN-? axis or oxidative burst pathways were identified. In conclusion, we identified twins with autosomal recessive AP-4 deficiency associated with HSP and mycobacterial disease, suggesting that AP-4 may play important role in the neurological and immunological systems.

Kong, Xiao-Fei; Bousfiha, Aziz; Rouissi, Abdelfettah; Itan, Yuval; Abhyankar, Avinash; Bryant, Vanessa; Okada, Satoshi; Ailal, Fatima; Bustamante, Jacinta



SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.  


Mutations in the SPG7 gene were initially reported in patients with autosomal recessive hereditary spastic paraplegia (HSP). Recent works suggested a dominant effect for some SPG7 mutations. To characterize the SPG7 mutational spectrum in a large cohort of Spanish HSP patients, we sequenced the whole SPG7 gene in a total of 285 Spastic Paraplegia patients. Large gene rearrangements were also ascertained in some patients. We found a total of 14 SPG7 mutations (12 new) in 14 patients; 2 were large deletions. All the mutation carriers had an adult onset age but only five (35%) had a complicated phenotype. We identified a single mutation in 13 patients. Familial analysis suggested a dominant inheritance for one (p.Leu78*) of these mutations. Carriers of the rare p.A510V variant were significantly more frequent in patients vs healthy controls (3% vs 1%), suggesting a pathogenic role for this SPG7 variant. We reported a high frequency of patients with only one SPG7 mutation, and a putative pathogenic role for the p.A510V variant. PMID:22571692

Sánchez-Ferrero, E; Coto, E; Beetz, C; Gámez, J; Corao, A I; Díaz, M; Esteban, J; del Castillo, E; Moris, G; Infante, J; Menéndez, M; Pascual-Pascual, S I; López de Munaín, A; Garcia-Barcina, M J; Alvarez, V



A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.  


The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by progressive lower-limb spasticity. In this study, we performed linkage analysis on an autosomal recessive pure HSP family and mapped the disease to chromosome 10q22.1-10q24.1, a locus partially overlapping the existing SPG9 locus. We have either identified a novel locus for pure recessive HSP (SPG27), or we have found the first case of allelic disorders with different mode of inheritance in HSP. If the disorders are indeed allelic, our results have reduced the SPG9 interval by 3Mb with D10S536 and D10S1758 as flanking markers. PMID:15455396

Meijer, Inge A; Cossette, Patrick; Roussel, Julie; Benard, Melanie; Toupin, Sylvie; Rouleau, Guy A



Acute paraplegia after chiropraxis  

Microsoft Academic Search

Spinal manipulation is a form of back and other musculoskeletal pain treatment that often involves a high-velocity thrust,\\u000a a technique in which the joints are adjusted rapidly. The main objective of chiropractors is to correct spinal malalignment\\u000a and relieve the nerves, allowing them to function optimally (Ernst In: Expert Rev Neurother 7:1451–1452, 2007; Oppenheim et al. In: Spine J 5:660–666,

Antonio Lopez-Gonzalez; Maria Peris-Celda



Recurrent vesical calculi, hypercalciuria, and biochemical evidence of increased bone resorption in an adult male with paraplegia due to spinal cord injury: is there a role for intermittent oral disodium etidronate therapy for prevention of calcium phosphate bladder stones?  

Microsoft Academic Search

Study design:Clinical case report with comments by colleagues from Sweden, Poland, Spain, Brazil, Japan, Belgium and Switzerland.Objectives:To discuss the role of disodium etidronate therapy for prevention of calcium phosphate vesical calculi in persons with spinal cord injury, who have hypercalciuria and biochemical evidence of increased bone resorption.Setting:Regional Spinal Injuries Centre, Southport, UK.Methods:A 21-year-old male sustained paraplegia (T-10; ASIA scale: A)

S Vaidyanathan; I D Watson; O Jonsson; A Z Buczynski; F Grases; I P Heilberg; T Yasui; J J Wyndaele; K Tozawa; K Kohri; B Schurch; P L Hughes; G Singh; B M Soni; P Sett; W D Fraser



Spastic Paraplegia Mutation N256S in the Neuronal Microtubule Motor KIF5A Disrupts Axonal Transport in a Drosophila HSP Model  

PubMed Central

Hereditary spastic paraplegias (HSPs) comprise a group of genetically heterogeneous neurodegenerative disorders characterized by spastic weakness of the lower extremities. We have generated a Drosophila model for HSP type 10 (SPG10), caused by mutations in KIF5A. KIF5A encodes the heavy chain of kinesin-1, a neuronal microtubule motor. Our results imply that SPG10 is not caused by haploinsufficiency but by the loss of endogenous kinesin-1 function due to a selective dominant-negative action of mutant KIF5A on kinesin-1 complexes. We have not found any evidence for an additional, more generalized toxicity of mutant Kinesin heavy chain (Khc) or the affected kinesin-1 complexes. Ectopic expression of Drosophila Khc carrying a human SPG10-associated mutation (N256S) is sufficient to disturb axonal transport and to induce motoneuron disease in Drosophila. Neurofilaments, which have been recently implicated in SPG10 disease manifestation, are absent in arthropods. Impairments in the transport of kinesin-1 cargos different from neurofilaments are thus sufficient to cause HSP–like pathological changes such as axonal swellings, altered structure and function of synapses, behavioral deficits, and increased mortality.

Stanchev, Doychin T.; Schneider, Carola D.; Karle, Kathrin N.; Daub, Katharina J.; Siegert, Vera K.; Flotenmeyer, Matthias; Schwarz, Heinz; Schols, Ludger; Rasse, Tobias M.



Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.  


The hereditary spastic paraplegias (HSPs), a group of neurodegenerative movement disorders, are among the genetically most heterogeneous clinical conditions. Still, the more than 50 forms known so far apparently explain less than 80% of cases. The present study identified two large HSP families, which seemed to show an autosomal recessive and an X-linked inheritance pattern. A set of genetic analyses including exome sequencing revealed plausible mutations only when assuming incomplete/sex-dependent penetrance of adjacent alterations in the autosomal dominant HSP gene ATL1 (c.1243C>T and c.1244G>A, respectively). By screening of additional HSP patients for the presence of these alterations, we identified three more cases and obtained additional evidence for reduced penetrance. Bisulfate sequencing and haplotype analysis indicated that c.1243C and c.1244G constitute a mutational hotspot. Our findings suggest that misinterpretation of inheritance patterns and, consequently, misselection of candidate genes to be screened in gene-focused approaches contribute to the apparently missing heritability in HSP and, potentially, in other genetically heterogeneous disorders. PMID:23483706

Varga, Rita-Eva; Schüle, Rebecca; Fadel, Hicham; Valenzuela, Irene; Speziani, Fiorella; Gonzalez, Michael; Rudenskaia, Galina; Nürnberg, Gudrun; Thiele, Holger; Altmüller, Janine; Alvarez, Victoria; Gamez, Josep; Garbern, James Y; Nürnberg, Peter; Zuchner, Stephan; Beetz, Christian



The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function  

PubMed Central

Mutations in the gene encoding strumpellin cause autosomal dominant hereditary spastic paraplegia (HSP), in which there is degeneration of corticospinal tract axons. Strumpellin is a component of the WASH complex, an actin-regulating complex that is recruited to endosomes by interactions with the retromer complex. The WASH complex and its relationship to retromer have not been fully characterised in neurons, and the molecular pathological mechanism of strumpellin mutation is unclear. Here we demonstrate that the WASH complex assembles in the brain, where it interacts with retromer. Members of both complexes co-localise with each other and with endosomes in primary cortical neurons, and are present in somato-dendritic and axonal compartments. We show that strumpellin is not required for normal transferrin receptor traffic, but is required for the correct subcellular distribution of the ?-2-adrenergic receptor. However, strumpellin disease mutations do not affect its incorporation into the WASH complex or its subcellular localisation, nor do they have a dominant effect on functions of the WASH complex, including regulation of endosomal tubulation, transferrin receptor traffic or ?-2-adrenergic receptor localisation. Models of the WASH complex indicate that it contains a single strumpellin molecule, so in patients with strumpellin mutations, complexes containing wild-type and mutant strumpellin should be present in equal numbers. In most cell types this would provide sufficient functional WASH to allow normal cellular physiology. However, owing to the demands on membrane traffic imposed by their exceptionally long axons, we suggest that corticospinal neurons are especially vulnerable to reductions in functional WASH.

Freeman, Caroline; Seaman, Matthew N.J.; Reid, Evan



KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.  


The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms is complex as most mapped loci have been identified in only one or a few families and account for only a small percentage of patients. We used next-generation sequencing focused on the SPG30 chromosomal region on chromosome 2q37.3 in two patients from the original linked family. In addition, wide genome scan and candidate gene analysis were performed in a second family of Palestinian origin. We identified a single homozygous mutation, p.R350G, that was found to cosegregate with the disease in the SPG30 kindred and was absent in 970 control chromosomes while affecting a strongly conserved amino acid at the end of the motor domain of KIF1A. Homozygosity and linkage mapping followed by mutation screening of KIF1A allowed us to identify a second mutation, p.A255V, in the second family. Comparison of the clinical features with the nature of the mutations of all reported KIF1A families, including those reported recently with hereditary sensory and autonomic neuropathy, suggests phenotype-genotype correlations that may help to understand the mechanisms involved in motor neuron degeneration. We have shown that mutations in the KIF1A gene are responsible for SPG30 in two autosomal recessive HSP families. In published families, the nature of the KIF1A mutations seems to be of good predictor of the underlying phenotype and vice versa. PMID:22258533

Klebe, Stephan; Lossos, Alexander; Azzedine, Hamid; Mundwiller, Emeline; Sheffer, Ruth; Gaussen, Marion; Marelli, Cecilia; Nawara, Magdalena; Carpentier, Wassila; Meyer, Vincent; Rastetter, Agnès; Martin, Elodie; Bouteiller, Delphine; Orlando, Laurent; Gyapay, Gabor; El-Hachimi, Khalid H; Zimmerman, Batel; Gamliel, Moriya; Misk, Adel; Lerer, Israela; Brice, Alexis; Durr, Alexandra; Stevanin, Giovanni



Activation of natural killer cell function in recreational athletes with paraplegia during a wheelchair half-marathon race 1 1 No commercial party having a direct financial interest in the results of the research supporting this article has or will confer a benefit upon the author(s) or upon any organization with which the author(s) is\\/are associated  

Microsoft Academic Search

Furusawa K, Tajima F, Umezu Y, Ueta M, Ide M, Mizushima T, Ogata H. Activation of natural killer cell function in recreational athletes with paraplegia during a wheelchair half-marathon race. Arch Phys Med Rehabil 2003;84:706-11.

Kazunari Furusawa; Fumihiro Tajima; Yuich Umezu; Mari Ueta; Makoto Ide; Takashi Mizushima; Hajime Ogata



Paraplegia, Succinylcholine and Cardiac Arrest.  

National Technical Information Service (NTIS)

Over a five-month period four cardiac arrests occurred within approximately four minutes of induction of anesthesia. Each patient had a sleep dose of thiopental (Pentothal) followed by 60 to 80 mg of succinylcholine, tracheal intubation, then halothane (F...

R. E. Tobey



A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.  


Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) and mental impairment is a frequent subtype of complicated HSP, often inherited as an autosomal recessive (AR) trait. It is clear from molecular genetic analyses that there are several underlying causes of this syndrome, with at least six genetic loci identified to date. However, SPG11 and SPG15 are the two major genes for this entity. To map the responsible gene in a large AR-HSP-TCC family of Tunisian origin, we investigated a consanguineous family with a diagnosis of AR-HSP-TCC excluded for linkage to the SPG7, SPG11, SPG15, SPG18, SPG21, and SPG32 loci. A genome-wide scan was undertaken using 6,090 SNP markers covering all chromosomes. The phenotypic presentation in five patients was suggestive of a complex HSP that associated an early-onset spastic paraplegia with mild handicap, mental deterioration, congenital cataract, cerebellar signs, and TCC. The genome-wide search identified a single candidate region on chromosome 9, exceeding the LOD score threshold of +3. Fine mapping using additional markers narrowed the candidate region to a 45.1-Mb interval (15.4 cM). Mutations in three candidate genes were excluded. The mapping of a novel AR-HSP-TCC locus further demonstrates the extensive genetic heterogeneity of this condition. We propose that testing for this locus should be performed, after exclusion of mutations in SPG11 and SPG15 genes, in AR-HSP-TCC families, especially when cerebellar ataxia and cataract are present. PMID:20593214

Boukhris, Amir; Feki, Imed; Elleuch, Nizar; Miladi, Mohamed Imed; Boland-Augé, Anne; Truchetto, Jérémy; Mundwiller, Emeline; Jezequel, Nadia; Zelenika, Diana; Mhiri, Chokri; Brice, Alexis; Stevanin, Giovanni



Acute paraplegia due to an extradural spinal lipoma: Case report  

Microsoft Academic Search

We describe a 20 year old man, who presented with an acute onset of transverse myelopathy evolving over 24 h at T6 spinal level; as yet, an unreported presenting symptom from a mid-thoracic intraspinal lipoma. The C.S.F findings suggested a spinal block. MRI, imaging was not practical. Urgent myelography revealed extradural compression at the T5-6 vertebral level. The patient underwent

Y V Meisheri; S Mehta; K Chattopadhyay



Paraplegia Following a Thoracolumbar Transforaminal Epidural Steroid Injection  

Microsoft Academic Search

Background: In recent years, transfo- raminal epidural injections have emerged as an alternative to interlaminar and caudal epi- dural steroid injections. The rationale for uti- lizing transforaminal epidural injections has been described for diagnostic as well as ther- apeutic purposes. The evidence for lumbar transforaminal epidural steroid injections in managing lumbar nerve root pain is strong, whereas it is moderate

Scott E. Glaser; Frank Falco



[Primary amyloidosis of the spine presenting with acute paraplegia].  


Primary amylosis is rarely located in bone, exceptionally in the spine. The radiographic presentation is polymorphous. Magnetic resonance imaging is currently the best imaging technique. Spinal amyloidosis can exceptionally lead to cord compression requiring rapid surgical release. PMID:18774025

Ajlani, H; Zaouia, K; Chtourou, A; Elleuch, M; Bellil, S; Sellami, S



Oncocytoma of the spinal cord causing paraplegia – a case report  

Microsoft Academic Search

Study design:Case report.Objectives:To describe a rare case of oncocytoma arising from the spinal cord in a 40-year old woman.Setting:Republic of Korea.Methods:The patient's history, physical examination, radiological and pathological findings were reviewed.Results:A 40-year-old woman presented with 3-month history of low back pain. Magnetic resonance imaging revealed an intradural extramedullary mass located between L1 and L4. She refused any surgical treatment and

H S Park; K Y Jang; M J Kang; K J Song; K B Lee




Microsoft Academic Search

The paper presents an overview of the ergonomic\\/design issues of a VR-enhanced orthopaedic appliance to be used in reha bilitation of patients with Spinal Cord Injury. First, some design considerations are described and an outline of aims which the tool should pursue are given. Finally, the design issues are described focusing both on the development of a test-bed rehabilitation device

Giuseppe Riva



Disseminated hydatid disease causing paraplegia and destruction of the hip  

Microsoft Academic Search

A patient who had had been treated by surgery for spinal echinococcosis in a Mediterranean country emigrated to northern Europe. After surgery, the echinococcosis disseminated and he developed chronic lytic and sinus-draining hydatid disease of the left hip and neuromuscular weakness of the left lower extremity. Seventeen years after the spinal surgery, he was referred to our hip service for

S. Santavirta; M. Valtonen; H. Pätiälä; O. Saarinen; Y. T. Konttinen



Corticospinal reorganization after locomotor training in a person with motor incomplete paraplegia.  


Activity-dependent plasticity as a result of reorganization of neural circuits is a fundamental characteristic of the central nervous system that occurs simultaneously in multiple sites. In this study, we established the effects of subthreshold transcranial magnetic stimulation (TMS) over the primary motor cortex region on the tibialis anterior (TA) long-latency flexion reflex. Neurophysiological tests were conducted before and after robotic gait training in one person with a motor incomplete spinal cord injury (SCI) while at rest and during robotic-assisted stepping. The TA flexion reflex was evoked following nonnociceptive sural nerve stimulation and was conditioned by TMS at 0.9 TA motor evoked potential resting threshold at conditioning-test intervals that ranged from 70 to 130 ms. Subthreshold TMS induced a significant facilitation on the TA flexion reflex before training, which was reversed to depression after training with the subject seated at rest. During stepping, corticospinal facilitation of the flexion reflex at early and midstance phases before training was replaced with depression at early and midswing followed by facilitation at late swing after training. These results constitute the first neurophysiologic evidence that locomotor training reorganizes the cortical control of spinal interneuronal circuits that generate patterned motor activity, modifying spinal reflex function, in the chronic lesioned human spinal cord. PMID:23484130

Hajela, Nupur; Mummidisetty, Chaithanya K; Smith, Andrew C; Knikou, Maria



Percival Pott; Pott's fracture, Pott's disease of the spine, Pott's paraplegia.  


There is a commonly held belief that Percival Pott sustained that ankle fracture that bears his name. This probably is not true; the injury was more likely a fracture of the tibial shaft, as suggested by careful reading of the account of the accident left to us by his son-in-law. PMID:23311023

Ellis, Harold



The use of selective electrical stimulation of the quadriceps to improve standing function in paraplegia  

Microsoft Academic Search

Persons with spinal cord injury (SCI) can benefit significantly from functional neuromuscular stimulation (FNS) systems for standing if manual tasks can be performed while upright. Using FNS to sufficiently activate the knee extensors to rise from a sitting position often results in inadvertent activation of the rectus femoris and\\/or sartorius, which flex the hip. In this study, intramuscular electrodes implanted

James P. Uhlir; Ronald J. Triolo; Rudi Kobetic



"I Can't Walk!" Acute Thrombosis of Descending Aorta Causing Paraplegia  

PubMed Central

A 50-year-old man presented to the emergency department (ED) with acute, bilateral lower extremity weakness and loss of sensation, as well as absent pulses bilaterally. Computed tomography angiography showed complete occlusion of the aorta below the inferior mesenteric artery, extending to the iliac bifurcations. Echocardiographic findings showed severe systolic dysfunction (ejection fraction of 15%) and cryptic cardiogenic shock in spite of stable vital signs. Prior to early operative intervention, an early goal-oriented hemodynamic strategy of shock management resulted in the resolution of motor and sensory deficits.After definitive surgical intervention, the patient was discharged neurologically intact. Acute aortic occlusion is frequently accompanied by myocardial dysfunction, which can be from mild to severe. The most severe form can even occur with normal vital signs or occult cardiogenic shock. Early detection and goal-directed preoperative hemodynamic optimization, along with surgical intervention in the ED, is required to optimize outcomes.

Mitchell, Matthew L.; Yucebey, Elif; Weaver, Mitchell R.; Jaehne, A. Kathrin; Rivers, Emanuel P.



Aerobic power during maximal exercise in untrained and well-trained persons with quadriplegia and paraplegia.  


The aerobic power during maximal exercise was studied in 58 males with traumatic spinal cord lesions from C4 to L4 (25 well-trained "world-class athletes" and 33 untrained). For comparison we tested five well arm-trained and five arm-untrained able-bodied subjects. During maximal wheelchair exercise the aerobic power (VO2 peak), pulmonary ventilation and blood lactate concentration was higher in subjects with lower levels of spinal cord injury. At each injury level above C6-C7, nearly all trained subjects reached higher VO2 peaks than untrained subjects with the corresponding level of lesion. The mean values for trained paraplegic persons were 2.16 +/- 0.38 l x min-1, corresponding to 33.6 +/- 6.7 ml x kg-1 x min-1. The peak heart rate was lower in the quadriplegic than in the paraplegic group with no or only small difference between trained and untrained subjects at the same level of spinal cord injury. Spinal cord lesions with pareses reduce the total active skeletal muscle mass. This can cause physical inactivity, medical complications and social isolation. As a consequence, cardiovascular disorders as cause of death is higher in this group compared to the general population. Therefore, one aim of rehabilitation is to increase the individual's performance in daily life activities. It has been shown that the normal daily life activities of quadri- and paraplegic individuals with no additional physical training are not intense enough to maintain a satisfactory level of physical fitness.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:3232045

Eriksson, P; Löfström, L; Ekblom, B



Gait analysis on the treadmill – monitoring exercise in the treatment of paraplegia  

Microsoft Academic Search

Study design: A prospective study was performed to evaluate the gait training of seven consecutive spinal cord injured patients and 10 controls on a treadmill using instrumented gait analysis and video documentation.Objectives: To determine whether it is possible to maintain gait motion within physiological limits during treadmill training.Setting: Primary and secondary care unit for spinal cord injury, Heidelberg, Germany.Methods: Treadmill

R Abel; M Schablowski; R Rupp; HJ Gerner



Study of Proper Tuning of Prosthetic Limb Control System with Paraplegia and Fatigue Condition  

Microsoft Academic Search

Prosthetic Control in living system is an ever- growing important phenomenon in today's world. The artificial limb thus is required to be well connected to the concerned nervous system which is in immediate contact with the limb concerned, and finally to the brain system which constitutes the overall control of the total living system including that artificially generated limb. This

Biswarup Neogi; Rajkumar Darbar; Subrata Mondal; Baidyanath Gorai; Sinchan Ghosh; Achintya Das; D. N. Tibarewala



Performance Evaluation of a Lower Limb Exoskeleton for Stair Ascent and Descent with Paraplegia*  

PubMed Central

This paper describes the application of a powered lower limb exoskeleton to aid paraplegic individuals in stair ascent and descent. A brief description of the exoskeleton hardware is provided along with an explanation of the control methodology implemented to allow stair ascent and descent. Tests were performed with a paraplegic individual (T10 complete injury level) and data is presented from multiple trials, including the hip and knee joint torque and power required to perform this functionality. Joint torque and power requirements are summarized, including peak hip and knee joint torque requirements of 0.75 Nm/kg and 0.87 Nm/kg, respectively, and peak hip and knee joint power requirements of approximately 0.65 W/kg and 0.85 W/kg, respectively.

Farris, Ryan J.; Quintero, Hugo A.; Goldfarb, Michael



[Squamous cell carcinoma of the bladder in a patient with HIV and paraplegia].  


In patients with spinal cord injury (SCI) the rate of squamous cell carcinomas (SCC) among bladder tumors is increased compared to the general population. An increased life expectancy is achieved by modern HIV treatment so that more AIDS-unrelated malignomas, e.g. bladder tumors, occur in these patients. Therefore, the risk for SCC in this group of patients is increased in patients with SCI and HIV but the combination of these two diseases is rare. We report the first case of SCC in a patient with SCI and HIV. Initial symptoms of bladder tumors in patients with SCI are often unspecific; therefore, in cases with new onset hematuria, recurrent urinary tract infections and changes in bladder function, cystoscopy and computed tomography (CT) scanning should be considered. PMID:23949540

Bartel, P; Göcking, K; Janzen, J; Pannek, J



An implantable neuroprosthesis for standing and walking in paraplegia: 5-year patient follow-up  

NASA Astrophysics Data System (ADS)

We present the results of a 5-year patient follow-up after implantation of an original neuroprosthesis. The system is able to stimulate both epimysial and neural electrodes in such a way that the complete flexor-extensor chain of the lower limb can be activated without using the withdrawal reflex. We demonstrate that standing and assisted walking are possible, and the results have remained stable for 5 years. Nevertheless, some problems were noted, particularly regarding the muscle response on the epimysial channels. Analysis of the electrical behaviour and thresholds indicated that the surgical phase is crucial because of the sensitivity of the functional responses to electrode placement. Neural stimulation proved to be more efficient and more stable over time. This mode requires less energy and provides more selective stimulation. This FES system can be improved to enable balanced standing and less fatiguing gait, but this will require feedback on event detection to trigger transitions between stimulation sequences, as well as feedback to the patient about the state of his lower limbs.

Guiraud, David; Stieglitz, Thomas; Koch, Klaus Peter; Divoux, Jean-Louis; Rabischong, Pierre



Spinal cord perfusion after extensive segmental artery sacrifice: can paraplegia be prevented?  

Microsoft Academic Search

Objective: Understanding the ability of the paraspinal anastomotic network to provide adequate spinal cord perfusion pressure (SCPP) critical for both surgical and endovascular repair of thoracoabdominal aortic aneurysms (TAAA). Methods: To monitor pressure in the collateral circulation, a catheter was inserted into the distal end of the divided first lumbar segmental artery (SA) of 10 juvenile Yorkshire pigs (28.9 3.8

Christian D. Etz; Tobias M. Homann; Konstadinos A. Plestis; Ning Zhang; Maximilian Luehr; Donald J. Weisz; George Kleinman; Randall B. Griepp



Spinal cord perfusion after extensive segmental artery sacrifice: can paraplegia be prevented?  

Microsoft Academic Search

Objective: Understanding the ability of the paraspinal anastomotic network to provide adequate spinal cord perfusion pressure (SCPP) critical for both surgical and endovascular repair of thoracoabdominal aortic aneurysms (TAAA). Methods: To monitor pressure in the collateral circulation, a catheter was inserted into the distal end of the divided first lumbar segmental artery (SA) of 10 juvenile Yorkshire pigs (28.9±3.8kg). SA

Christian D. Etz; Tobias M. Homann; Konstadinos A. Plestis; Ning Zhang; Maximilian Luehr; Donald J. Weisz; George Kleinman; Randall B. Griepp




Microsoft Academic Search

This paper reports simulation results about the design of a PID controller of Functional Electrical Stimulation (FES) to be used for quasi-isometric exercises in rehabilitation of paraplegics. The simulations refer to a specific experimental device developed at the Fondazione Don Gnocchi, mainly used in standing up and sitting down using FES. This is a seesaw, with the patient on one

Fabio Previdi; Maurizio Ferrarin; Sergio Savaresi; Sergio Bittanti



Microsoft Academic Search

Spinal cord injuries (SCIs) have a profound physical, social and emotional cost to patients and their families. Obviously SCIs severely disrupt normal patterns of interaction with the environment. Firstly, the opportunities for active interaction are inevitably diminished due to motor or sensory impairment. Moreover, such problems may increase as the time since injury lengthens and the patient becomes more withdrawn



Original electronic design to perform epimysial and neural stimulation in paraplegia  

NASA Astrophysics Data System (ADS)

This paper presents an original electronic architecture to manage epimysial and neural stimulation using the same implantable device. All the muscles needed to achieve lower limb movements such as standing and walking can thus be activated. Mainly for surgical reasons, some muscles need to be stimulated through different inputs: epimysium or motor nerve. We developed an electronic solution, including the design of an application-specific integrated circuit, to meet the requirements of both types of stimulation. Five years after the successful implantation of the system, we were able to evaluate the system's performance. The patient is still using the system at home and no failure occurred during this 5-year period. We conclude that the electronic design not only provides a unique investigative tool for research, but that it can also be used to restore the motor function of the lower limb. This technology has an advantage over external stimulation because the patient can safely use the system at home. However, improvements such as lower power consumption, and thus greater autonomy, are needed. We further conclude that the modelling of the electrical behaviour of the electrodes is reliable and the estimated parameter values are homogeneous and consistent for the same type of electrode. Thus, the three parameters of the first-order model can be identified from an acute animal experiment and provide a means to optimize the design of the output stage of implanted stimulators.

Guiraud, David; Stieglitz, Thomas; Taroni, Gérard; Divoux, Jean-Louis



Urinary calcium and kidney stones in paraplegia. report of an attempted prospective study  

Microsoft Academic Search

Serial biochemical, radiological and bacteriological investigations were carried out in 169 patients following damage to the spinal cord. Follow up was from 2 to 4 years. Results of intravenous pyelography are available 12 months or more after the onset of paralysis in 84 patients, and at least 24 months after paralysis in 42. No stones have been found in the

R G Burr; J J Walsh



An in vivo mouse model of intraosseous spinal cancer causing evolving paraplegia.  


The spine is the commonest site of skeletal metastatic disease and uncontrolled growth of cancer in the spine will inevitably cause pain and neurologic compromise. Improved understanding of the pathobiology behind this devastating condition is urgently needed. For this reason, the aim of this study was to establish a clinically relevant, animal model of spinal cancer. A percutaneous orthotopic injection of human breast (MDA-MB-231) or human prostate (PC-3) cancer cells was administered into the upper lumbar spine of nude mice (n = 6). Animals were monitored twice daily for general welfare, gait asymmetry or disturbance, and hindlimb weakness. After sacrifice, plain radiographs, micro-CT imaging and histological analysis of the spines were performed on each mouse. All mice recovered fully from the inoculation procedure and displayed normal gait and behaviour patterns for at least 3 weeks post-inoculation. Subsequently, between 3 and 5 weeks post-inoculation, each mouse developed evolving paralysis in their hindlimbs over 48-72 h. All followed the same pattern of decline following onset of neurological dysfunction; from gait asymmetry and unilateral hindlimb weakness, to complete unilateral hindlimb paralysis and finally to complete bilateral hindlimb paralysis. Plain radiographs, micro-CT scanning and histological analysis confirmed local tumour growth and destruction of the spine in all six mice. An in vivo mouse model of human intraosseous spinal cancer has been established forming cancers that grow within the spine and cause epidural spinal cord compression, resulting in a reproducible, evolving neurological deficit and paralysis that closely resembles the human condition. PMID:23955595

Cossigny, Davina A F; Mouhtouris, Effie; Dushyanthen, Sathana; Gonzalvo, Augusto; Quan, Gerald M Y



On Plasticity and Paraplegia Some Clinical Observations on the Ability to Recover from Severe Injury to the Spinal Cord  

Microsoft Academic Search

Two cases are reported here of partial recovery from severe spinal cord injury involving fracture dislocations of the lower thoracic vertebrae. These are remarkable instances, since each of the two women involved had been totally and near totally paralyzed from the waist down for about ten years. The general medical view of such injury is that recovery is unlikely and

Carl Ginsburg


Coupling between "hand" primary sensorimotor cortex and lower limb muscles after ulnar nerve surgical transfer in paraplegia.  


Previous neuroimaging evidence revealed an "invasion" of "hand" over "lower limb" primary sensorimotor cortex in paraplegic subjects, with the exception of a rare patient who received a surgical motor reinnervation of hip-thigh muscles by the ulnar nerve. Here, the authors show that a functional reorganization of cortico-muscular and cortico-cortical oscillatory coupling was related to the recovery of the rare patient, as a paradigmatic case of long-term plasticity in human sensorimotor cortex after motor reinnervation of paraplegic muscles. This conclusion was based on electroencephalographic and electromyographic data collected while the patient and normal control subjects performed isometric muscle contraction of the left hand or lower limb. Cortico-muscular and cortico-cortical coupling was estimated by electroencephalographic-electromyographic coherence and directed transfer function of a multivariate autoregressive model. PMID:14979799

Babiloni, C; Vecchio, F; Babiloni, F; Brunelli, G A; Carducci, F; Cincotti, F; Pizzella, V; Romani, G L; Tecchio, F T; Rossini, P M



Self-directed EMG training for the control of pain and spasticity in paraplegia: A case study  

Microsoft Academic Search

A 25-year-old paraplegic woman was able to gain control of her debilitating leg and bladder spasms and abdominal pain using self-directed EMG biofeedback. The case is significant in that she previously had only cursory exposure to biofeedback as an undergraduate student and received only minimal support and direction from an instructor. She proceeded through daily home practice using a borrowed

Eugenia Bodenhamer; Candace Coleman; Jeanne Achterberg



Interference of different types of seats on postural control system during a forward-reaching task in individuals with paraplegia.  


We aimed to evaluate the influence of different types of wheelchair seats on paraplegic individuals' postural control using a maximum anterior reaching test. Balance evaluations during 50, 75, and 90% of each individual's maximum reach in the forward direction using two different cushions on seat (one foam and one gel) and a no-cushion condition were carried out on 11 individuals with a spinal cord injury (SCI) and six individuals without SCI. Trunk anterior displacement and the time spent to perform the test were assessed. No differences were found for the three types of seats in terms of trunk anterior displacement and the time spent to perform the test when intragroup comparisons were made in both groups (P>0.05). The intergroup comparison showed that body displacement was less prominent and the time spent to perform the test was more prolonged for individuals with SCI (P<0.05), which suggests a postural control deficit. The seat type did not affect the ability of the postural control system to maintain balance during the forward-reaching task. PMID:22517377

de Abreu, Daniela Cristina Carvalho; Takara, Kelly; Metring, Nathália Lopes; Reis, Júlia Guimarães; Cliquet, Alberto



Recovery from paraplegia after the treatment of spinal dural arteriovenous fistula: case report and review of the literature  

Microsoft Academic Search

Background  Spinal dural arteriovenous fistula (SDAVF) is a rare and enigmatic disease. Functional outcome is particularly uncertain for\\u000a the small group of patients that are unable to stand at the time of diagnosis (grade 5 gait disturbance on the Aminoff-Logue\\u000a scale, ALS). The objective of this study is to examine the final functional outcome of patients with SDAVF in grade 5

Ruth Prieto; Jose M. Pascual; Raquel Gutiérrez; Enrique Santos



Interference of Different Types of Seats on Postural Control System during a Forward-Reaching Task in Individuals with Paraplegia  

ERIC Educational Resources Information Center

|We aimed to evaluate the influence of different types of wheelchair seats on paraplegic individuals' postural control using a maximum anterior reaching test. Balance evaluations during 50, 75, and 90% of each individual's maximum reach in the forward direction using two different cushions on seat (one foam and one gel) and a no-cushion condition…

de Abreu, Daniela Cristina Carvalho; Takara, Kelly; Metring, Nathalia Lopes; Reis, Julia Guimaraes; Cliquet, Alberto, Jr.



The DALY, context and the determinants of the severity of disease: an exploratory comparison of paraplegia in Australia and Cameroon  

Microsoft Academic Search

This paper summarises the findings of an empirical investigation of some of the technical and social assumptions on which the disability adjusted life year (DALY) is based. The objectives of the study were to examine the notion that the burden of disease is broadly similar without regard to country, environment, gender or socio-economic status and to develop detailed descriptions of

Pascale Allotey; Daniel Reidpath; Aka Kouamé; Robert Cummins



It's About Time Physical Disabilities Came Out in the Open: Part I. Amputation, Monoplegia, Hemiplegia, Triplegia, Quadruplegia, Paraplegia.  

ERIC Educational Resources Information Center

|After a definition of the term, mobility impairments, and a discussion of the causes and problems associated with amputation, this document covers, under the major section, Paralysis, six handicapping conditions in terms of how each may affect a student's ability to be successful in both a vocational program and a job. Topics under this section…

Davis, Kay


Effect of Epidural stimulation of the lumbosacral spinal cord on voluntary movement, standing, and assisted stepping after motor complete paraplegia: a case study  

PubMed Central

Summary Background Repeated periods of stimulation of the spinal cord and training seems to have amplified the ability to consciously control movement. Methods An individual three years post C7-T1 subluxation presented with a complete loss of clinically detectable voluntary motor function and partial preservation of sensation below the T1 cord segment. Following 170 locomotor training sessions, a 16-electrode array was surgically placed on the dura (L1-S1 cord segments) to allow for chronic electrical stimulation. After implantation and throughout stand retraining with epidural stimulation, 29 experiments were performed. Extensive stimulation combinations and parameters were tested to achieve standing and stepping. Findings Epidural stimulation enabled the human lumbosacral spinal circuitry to dynamically elicit full weight-bearing standing with assistance provided only for balance for 4·25 minutes in a subject with a clinically motor complete SCI. This occurred when using stimulation at parameters optimized for standing while providing bilateral load-bearing proprioceptive input. Locomotor-like patterns were also observed when stimulation parameters were optimized for stepping. In addition, seven months after implantation, the subject recovered supraspinal control of certain leg movements, but only during epidural stimulation. Interpretation Even after a severe low cervical spinal injury, the neural networks remaining within the lumbosacral segments can be reactivated into functional states so that it can recognize specific details of ensembles of sensory input to the extent that it can serve as the source of neural control. In addition, newly formed supraspinal input to this same lumbosacral segments can re-emerge as another source of control. Task specific training with epidural stimulation may have reactivated previously silent spared neural circuits or promoted plasticity. This suggests that these interventions could be a viable clinical approach for functional recovery after severe paralysis. Funding National Institutes of Health and Christopher and Dana Reeve Foundation.

Harkema, Susan; Gerasimenko, Yury; Hodes, Jonathan; Burdick, Joel; Angeli, Claudia; Chen, Yangsheng; Ferreira, Christie; Willhite, Andrea; Rejc, Enrico; Grossman, Robert G.; Edgerton, V. Reggie



Comparative shoulder kinematics during free standing, standing depression lifts and daily functional activities in persons with paraplegia: considerations for shoulder health  

Microsoft Academic Search

Study design:Case series; nonparametric repeated-measures analysis of variance.Objective:To compare and contrast three-dimensional shoulder kinematics during frequently utilized upper extremity weight-bearing activities (standing depression lifts used in brace walking, weight-relief raises, transfers) and postures (sitting rest, standing in a frame) in spinal cord injury (SCI).Setting:Movement Analysis Laboratory, Department of Physical Therapy, Ithaca College, Rochester, NY, USA.Methods:Three female and two male subjects

L M Riek; P M Ludewig; D A Nawoczenski



Unpredicted spontaneous extrusion of a renal calculus in an adult male with spina bifida and paraplegia: report of a misdiagnosis. Measures to be taken to reduce urological errors in spinal cord injury patients  

Microsoft Academic Search

BACKGROUND: A delay in diagnosis or a misdiagnosis may occur in patients with spinal cord injury (SCI) or spinal bifida as typical symptoms of a clinical condition may be absent because of their neurological impairment. CASE PRESENTATION: A 29-year old male, who was born with spina bifida and hydrocephalus, became unwell and developed a swelling and large red mark in

Subramanian Vaidyanathan; Peter L Hughes; Bhakul M Soni; Gurpreet Singh; Paul Mansour; Pradipkumar Sett



Three dimensional upper extremity motion during manual wheelchair propulsion in men with different levels of spinal cord injury  

Microsoft Academic Search

This investigation compared three dimensional upper extremity motion during wheelchair propulsion in persons with 4 levels of spinal cord injury: low paraplegia (n=17), high paraplegia (n=19), C7 tetraplegia (n=16), and C6 tetraplegia (n=17). Upper extremity motion was recorded as subjects manually propelled a wheelchair mounted on a stationary ergometer. For all motions measured, subjects with paraplegia had similar patterns suggesting

Craig J Newsam; Sreesha S Rao; Sara J Mulroy; JoAnne K Gronley; Ernest L Bontrager; Jacquelin Perry



Surgical Treatment of Tuberculous Paraparesis in the Third Trimester: A Report of Two Cases and Review of the Literature  

Microsoft Academic Search

Background: Tuberculous paraplegia as a consequence of spinal infiltration in pregnancy is reported to be rare. Analysis of the current literature produces few case studies that report successful outcomes. Delay in diagnosis and treatment may ultimately result in an irreversible neurological deficit. The potential implications of progression are paraplegia and a significant associated morbidity to the fetus if delivered premature.

Peter Loughenbury; George Pavlou; Robert Dunsmuir



Localised necrosis of scrotum (Fournier's gangrene) in a spinal cord injury patient – a case report  

Microsoft Academic Search

BACKGROUND: Men with spinal cord injury (SCI) appear to have a greater incidence of bacterial colonisation of genital skin as compared to neurologically normal controls. We report a male patient with paraplegia who developed rapidly progressive infection of scrotal skin, which resulted in localised necrosis of scrotum (Fournier's gangrene). CASE PRESENTATION: This male patient developed paraplegia at T-8 level 21

Subramanian Vaidyanathan; Bakul M Soni; Peter L Hughes; Paul Mansour; Gurpreet Singh; James Darroch; Tun Oo



16 CFR 1116.2 - Definitions.  

Code of Federal Regulations, 2010 CFR

...organ; (iv) Permanent brain injury to any degree or with any residual disorder (e.g. epilepsy), and brain or brain stem injury including coma and spinal cord injuries; (v) Paraplegia, quadriplegia, or permanent paralysis or...



16 CFR 1116.2 - Definitions.  

Code of Federal Regulations, 2010 CFR

...organ; (iv) Permanent brain injury to any degree or with any residual disorder (e.g. epilepsy), and brain or brain stem injury including coma and spinal cord injuries; (v) Paraplegia, quadriplegia, or permanent paralysis or...



Accommodation Information by Disability  


... Syndrome Mental Health Impairments Migraine Headaches Multiple Chemical Sensitivity or Environmental Illness Multiple Sclerosis Muscular Dystrophy Myasthenia Gravis O Obesity One Hand Use P Paraplegia Parkinson's Disease Post-Polio Syndrome ...


Genetics Home Reference: L1 syndrome  


... right halves of the brain (agenesis of the corpus callosum). The symptoms of L1 syndrome vary widely among ... Spastic Paraplegia Genetic Alliance: Hydrocephalus Genetic Testing Registry: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Genetic Testing Registry: ...


Genetics Home Reference: Troyer syndrome  


... materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of ... autosomal ; autosomal recessive ; cell ; developmental delay ; distal ; dysarthria ; endocytosis ; gene ; motor ; mutation ; nervous system ; paraparesis ; paraplegia ; peripheral ; ...


Meningocele repair - series (image)  


... term result depends on the condition of the spinal cord and nerves. Outcomes range from normal development to paralysis (paraplegia). Infants may require about 2 weeks in the hospital after surgery.


Atlastin (PAT-APPL-10-242 008).  

National Technical Information Service (NTIS)

The present invention relates to methods and compositions of a novel gene and the peptide encoded by the gene. Mutations in the gene, named atlastin, are factors in the disease Hereditary Spastic Paraplegia and related disorders. The present invention wil...

J. K. Fink X. Zhao



Electroencephalographic slowing and reduced reactivity in neuropathic pain following spinal cord injury  

Microsoft Academic Search

Study Design:Brain wave activity in people with paraplegia, with and without neuropathic pain, was compared to brain wave activity in matched able-bodied controls.Objectives:To investigate whether spinal cord injury with neuropathic pain is associated with a slowing of brain wave activity.Setting:Australia.Methods:Electroencephalographic (EEG) data were collected in the eyes open (EO) and eyes closed (EC) states from 16 participants with paraplegia (eight

P Boord; P J Siddall; Y Tran; D Herbert; J Middleton; A Craig



Effect of the free radical scavenger MCI186 on spinal cord reperfusion after transient ischemia in the rabbit  

Microsoft Academic Search

Objective: Paraplegia remains a serious complication of aortic operations. The production of free radicals during reperfusion\\u000a after transient ischemia is believed to induce secondary spinal neuronal injury, resulting in paraplegia. The aim of the present\\u000a study was to clarify the protective effect and method of administration of antioxidants on the neurological and histological\\u000a outcome in the animal model for reperfusion

Kenichi Hashizume; Toshihiko Ueda; Hideyuki Shimizu; Atsuo Mori; Ryohei Yozu



Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases  

PubMed Central

Background SPG4 encodes spastin, a member of the AAA protein family, and is the major gene responsible for autosomal dominant spastic paraplegia. It accounts for 10–40% of families with pure (or eventually complicated) hereditary spastic paraparesis (HSP). Objective To assess the frequency of SPG4 mutation in patients with spastic paraplegia but without family histories. Methods 146 mostly European probands with progressive spastic paraplegia were studied (103 with pure spastic paraplegia and 43 with additional features). Major neurological causes of paraplegia were excluded. None had a family history of paraplegia. DNA was screened by DHPLC for mutations in the 17 coding exons of the SPG4 gene. Sequence variants were characterised by direct sequencing. A panel of 600 control chromosomes was used to rule out polymorphisms. Results The overall rate of mutations was 12%; 19 different mutations were identified in 18 patients, 13 of which were novel. In one family, where both parents were examined and found to be normal, the mutation was transmitted by the asymptomatic mother, indicating reduced penetrance. The parents of other patients were not available for analysis but were reported to be normal. There was no evidence for de novo mutations. The mutations found in these apparently isolated patients were mostly of the missense type and tended to be associated with a less severe phenotype than previously described in patients with inherited mutations. Conclusions : The unexpected presence of SPG4 gene mutations in patients with sporadic spastic paraplegia suggests that gene testing should be done in individuals with pure or complicated spastic paraplegia without family histories.

Depienne, C; Tallaksen, C; Lephay, J Y; Bricka, B; Poea-Guyon, S; Fontaine, B; Labauge, P; Brice, A; Durr, A



Progression of spinal cord atrophy by traumatic or inflammatory myelopathy in the pediatric patients: case series  

Microsoft Academic Search

Study design:Case series.Objective:To present spinal cord atrophy in pediatric patients who had spinal cord injury developed after trauma or acute transverse myelitis, and had no motor recovery later.Setting:Department of Rehabilitation Medicine, Tertiary National University Children's Hospital, Seoul, Korea.Methods:Case series.Results:Two pediatric patients with paraplegia due to acute transverse myelitis and one pediatric patient with paraplegia due to traumatic myelopathy were included

M S Bang; S J Kim



Neurological Complications Following Endoluminal Repair of Thoracic Aortic Disease  

SciTech Connect

Open surgery for thoracic aortic disease is associated with significant morbidity and the reported rates for paraplegia and stroke are 3%-19% and 6%-11%, respectively. Spinal cord ischemia and stroke have also been reported following endoluminal repair. This study reviews the incidence of paraplegia and stroke in a series of 186 patients treated with thoracic stent grafts. From July 1997 to September 2006, 186 patients (125 men) underwent endoluminal repair of thoracic aortic pathology. Mean age was 71 years (range, 17-90 years). One hundred twenty-eight patients were treated electively and 58 patients had urgent procedures. Anesthesia was epidural in 131, general in 50, and local in 5 patients. Seven patients developed paraplegia (3.8%; two urgent and five elective). All occurred in-hospital apart from one associated with severe hypotension after a myocardial infarction at 3 weeks. Four of these recovered with cerebrospinal fluid (CSF) drainage. One patient with paraplegia died and two had permanent neurological deficit. The rate of permanent paraplegia and death was 1.6%. There were seven strokes (3.8%; four urgent and three elective). Three patients made a complete recovery, one had permanent expressive dysphasia, and three died. The rate of permanent stroke and death was 2.1%. Endoluminal treatment of thoracic aortic disease is an attractive alternative to open surgery; however, there is still a risk of paraplegia and stroke. Permanent neurological deficits and death occurred in 3.7% of the patients in this series. We conclude that prompt recognition of paraplegia and immediate insertion of a CSF drain can be an effective way of recovering spinal cord function and improving the prognosis.

Morales, J. P.; Taylor, P. R.; Bell, R. E.; Chan, Y. C. [Guy's and St. Thomas' Foundation Hospital NHS Trust, Department of Vascular Surgery (United Kingdom); Sabharwal, T. [Guy's and St. Thomas' Foundation Hospital NHS Trust, Department of Interventional Radiology (United Kingdom); Carrell, T. W. G. [Guy's and St. Thomas' Foundation Hospital NHS Trust, Department of Vascular Surgery (United Kingdom); Reidy, J. F. [Guy's and St. Thomas' Foundation Hospital NHS Trust, Department of Interventional Radiology (United Kingdom)], E-mail:



Three dimensional upper extremity motion during manual wheelchair propulsion in men with different levels of spinal cord injury.  


This investigation compared three dimensional upper extremity motion during wheelchair propulsion in persons with 4 levels of spinal cord injury: low paraplegia (n=17), high paraplegia (n=19), C7 tetraplegia (n=16), and C6 tetraplegia (n=17). Upper extremity motion was recorded as subjects manually propelled a wheelchair mounted on a stationary ergometer. For all motions measured, subjects with paraplegia had similar patterns suggesting that the wheelchair backrest adequately stabilizes the trunk in the absence of abdominal musculature. Compared with paraplegic subjects, those with tetraplegia differed primarily in the strategy used to contact the wheel. This was most evident among subjects with C6 tetraplegia who had greater wrist extension and less forearm pronation. PMID:10567754

Newsam, C J; Rao, S S; Mulroy, S J; Gronley, J K; Bontrager, E L; Perry, J



Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.  


Homozygosity mapping and exome sequencing in two affected siblings of a consanguineous family with mild intellectual disability, spastic paraplegia, and strabismus revealed a homozygous premature stop mutation at codon 139 of C12ORF65. Two previous studies reported truncating mutations at positions 84 and 132 of the protein. However, symptoms of the referred patients were only partially overlapping. Considering our findings, we now conclude that truncating mutations in C12ORF65 lead to a variable phenotype with intellectual disability, spastic paraplegia, and ophthalmoplegia as common symptoms. Further, we confirm a genotype-phenotype correlation between increasing length of the truncated protein and decreasing severity of symptoms. PMID:24080142

Buchert, Rebecca; Uebe, Steffen; Radwan, Farah; Tawamie, Hasan; Issa, Shaher; Shimazaki, Haruo; Henneke, Marco; Ekici, Arif B; Reis, André; Abou Jamra, Rami



[Cyst of the conus masquerading as motor neuron disease].  


We report on a patient presenting with rapidly progressive painless paraplegia, amyotrophy and fasciculations masquerading as motoneuron disease. There were no bowel or bladder involvement but the patient noted mild paresthesia on the external part of the right foot and hypertrophy of the right calve was present. While lumbar CT Scan was normal, MRI showed a large cyst of the conus. Analysis of the cyst concluded to a benign cyst of the conus. Paraplegia resolved after surgery and after one year, no relapse was observed so that an hidden ependymoma appeared unlikely. PMID:9932308

Miloudi, M; Olive, P; Maubon, A; Frerebeau, P; Camu, W



Locomotor training in paraplegic patients  

Microsoft Academic Search

Based on observations of the locomotor capacity of spinalized cat, recent studies indicate that spinal locomotor centres can also be activated and trained in complete and incomplete paraplegic patients. Patients with incomplete paraplegia profit from the training program so that their walking ability on a stationary surface improved. This article reviews the training effects on the locomotor pattern underlying this

V. Dietz; G. Colombo; L. Jensen



Canine thoracolumbar invertebral disk disease: diagnosis, prognosis, and treatment.  


Thoracolumbar intervertebral disk disease (IVDD) is a common, important cause of paraspinal hyperesthesia, pelvic limb ataxia, paraparesis, paraplegia, and urinary and fecal incontinence in dogs. A companion article reviewed pathophysiology, epidemiology, physical examination, and emergency medical therapy. This article addresses the diagnosis, prognosis, and treatment of dogs with thoracolumbar IVDD. PMID:19412898

Griffin, John F; Levine, Jonathan; Kerwin, Sharon; Cole, Robert



Novel cyclovirus in human cerebrospinal fluid, Malawi, 2010-2011.  


To identify unknown human viruses, we analyzed serum and cerebrospinal fluid samples from patients with unexplained paraplegia from Malawi by using viral metagenomics. A novel cyclovirus species was identified and subsequently found in 15% and 10% of serum and cerebrospinal fluid samples, respectively. These data expand our knowledge of cyclovirus diversity and tropism. PMID:23968557

Smits, Saskia L; Zijlstra, Ed E; van Hellemond, Jaap J; Schapendonk, Claudia M E; Bodewes, Rogier; Schürch, Anita C; Haagmans, Bart L; Osterhaus, Albert D M E



Motor unit discharge characteristics and short term synchrony in paraplegic humans  

Microsoft Academic Search

Frequency of firing and regularity of discharge of human motor units, and short term synchrony between pairs of motor units, have been assessed in extensor digitorum communis (EDC) and tibialis anterior (TA) muscles in control subjects and in clinically complete paraplegic subjects. The discharge pattern of TA motor units in paraplegia ranged from extremely regular to very irregular for different

N. J Davey; P. H. Ellaway; C. L. Friedland; D J Short



Navigating a Robotic Wheelchair in a Railway Station during Rush Hour  

Microsoft Academic Search

In this paper we describe the hardware design, the control and navigation system, and our preliminary experiments with the robotic wheelchair MAid (Mobility Aid for Elderly and Disabled People). MAid's general task is to transport people with severely impaired motion skills such as, for example, paraplegia, multiple sclerosis, poliomyelitis, or muscular dystrophy. Following the advice of disabled people and physicians

Erwin Prassler; Jens Scholz; Paolo Fiorini



Acute hind limb paralysis secondary to an extradural spinal cord Cryptococcus gattii lesion in a dog  

PubMed Central

A 2-year-old, spayed female, German short-haired pointer was presented with a 1-day history of non-ambulatory paraplegia with absent deep pain perception. A computed tomography scan revealed an irregular eighth thoracic vertebral body and an extradural compressive lesion. Decompression was performed and abnormal tissues were submitted for analysis. Findings were consistent with a Cryptococcus gattii infection.

Kurach, Lindsey; Wojnarowicz, Chris; Wilkinson, Tom; Sereda, Colin



Spinal arthrodesis for spinal deformity using posterior instrumentation and sublaminar wiring  

Microsoft Academic Search

One hundred consecutive patients with spinal deformity due to various diagnoses were treated by posterior spinal arthrodesis with instrumentation and multiple sublaminar wires. Both the Harrington and Luque rodding systems were used. A total of 1128 wire loops were passed. No patient developed paraparesis or paraplegia, but three had transient sensory disturbance. There were no cases of broken rods or

R. B. Winter; M. B. Anderson



Fractures of the thoraco-lumbar spine  

Microsoft Academic Search

A personal prospective study of 98 consecutive patients presenting with neurological impairment and fractures or dislocations between the 9th thoracic and 2nd lumbar vertebrae bodies. Fifty-three patients underwent Harrington instrumentation, and 45 patients were treated recumbently. Neurological improvement was much better following Harrington rods in the complete paraplegia group but there was no difference in neurological recovery between the two

Robert M Lifeso; K M Arabie; Saleh K Mohammed Kadhi



Porokeratoma: a different entity or a variant of verrucous (hyperkeratotic) porokeratosis?  


Porokeratoma (acanthoma with features of porokeratosis) is a recently described entity with a distinct pattern of cornoid lamellation and clinically different from typical porokeratosis. We present a case of multiple porokeratomas on the buttock of a 78-year-old man with paraplegia secondary to poliomyelitis and ankylosing spondylarthritis. We briefly review the characteristics and controversies of this new entity. PMID:23716820

Batalla, Ana; Rosón, Elena; De la Torre, Carlos



Porokeratoma: A Different Entity or a Variant of Verrucous (Hyperkeratotic) Porokeratosis?  

PubMed Central

Porokeratoma (acanthoma with features of porokeratosis) is a recently described entity with a distinct pattern of cornoid lamellation and clinically different from typical porokeratosis. We present a case of multiple porokeratomas on the buttock of a 78-year-old man with paraplegia secondary to poliomyelitis and ankylosing spondylarthritis. We briefly review the characteristics and controversies of this new entity.

Batalla, Ana; Roson, Elena; De la Torre, Carlos



Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway  

Microsoft Academic Search

To better understand hereditary spastic paraplegia (HSP), we characterized the function of atlastin, a protein that is frequently involved in juvenile forms of HSP, by analyzing loss- and gain-of-function phenotypes in the developing zebrafish. We found that knockdown of the gene for atlastin (atl1) caused a severe decrease in larval mobility that was preceded by abnormal architecture of spinal motor

Coralie Fassier; James A Hutt; Steffen Scholpp; Andrew Lumsden; Bruno Giros; Fatiha Nothias; Sylvie Schneider-Maunoury; Corinne Houart; Jamilé Hazan



Factors associated with thoracic spinal cord injury, lesion level and rotator cuff disorders  

Microsoft Academic Search

Background: The study was concerned with the secondary functional compromise persons with long-term paraplegia contend with, that has been shown to be associated with wheelchair use. Of particular interest was the relationship between the level of thoracic spinal cord injury (SCI) and factors predisposing to rotator cuff disorders (RCD), one of the most common upper extremity musculoskeletal complications linked with

KA Sinnott; P Milburn; H McNaughton



Birth defects following maternal exposure to ergotamine, beta blockers, and caffeine  

Microsoft Academic Search

Ergotamine exposure during pregnancy has been suggested to cause birth defects which have a vascular disruptive aetiology. The present case provides additional support for the possible adverse fetal effects of exposure to ergotamine, caffeine, and propranolol during the first four months of pregnancy. At birth the infant showed evidence of early arrested cerebral maturation and paraplegia. The nature of these

H E Hughes; D A Goldstein



A case of reversible paraparesis following celiac plexus block  

Microsoft Academic Search

Background and Objectives: Permanent and acute reversible paraplegia following celiac plexus block (CPB) have been reported. We report a case of prolonged reversible paraparesis after alcohol celiac plexus block. Case Report: A 72-year-old man with primary multicentric pancreatic tumor and multiple hepatic metastases underwent alcohol celiac plexus neurolysis for severe abdominal pain radiating to the back. The patient had complete

Ashok Kumar; Shiva S. Tripathi; Debashish Dhar; Abhijit Bhattacharya



Neurologic Complications in Percutaneous Nephrolithotomy  

PubMed Central

Purpose Percutaneous nephrolithotomy (PCNL) has been the preferred procedure for the removal of large renal stones in Iran since 1990. Recently, we encountered a series of devastating neurologic complications during PCNL, including paraplegia and hemiplegia. There are several reports of neurologic complications following PCNL owing to paradoxical air emboli, but there are no reports of paraplegia following PCNL. Materials and Methods We retrospectively reviewed the medical records of patients who had undergone PCNL in 13 different endourologic centers and retrieved data related to neurologic complications after PCNL, including coma, paraplegia, hemiplegia, and quadriplegia. Results The total number of PCNL procedures in these 13 centers was 30,666. Among these procedures, 11 cases were complicated by neurologic events, and four of these cases experienced paraplegia. All events happened with the patient in the prone position with the use of general anesthesia and in the presence of air injection. There were no reports of neurologic complications in PCNL procedures performed with the patient under general anesthesia and in the prone position and with contrast injection. Conclusions It can be assumed that using room air to opacify the collecting system played a major role in the occurrence of these complications. Likewise, the prone position and general anesthesia may predispose to these events in the presence of air injection.

Basiri, Abbas; Soltani, Mohammad Hossein; Kamranmanesh, Mohammadreza; Tabibi, Ali; Mohsen Ziaee, Seyed Amir; Nouralizadeh, Akbar; Sharifiaghdas, Farzaneh; Poorzamani, Mahtab; Gharaei, Babak; Ozhand, Ardalan; Lashay, Alireza; Ahanian, Ali; Aminsharifi, Alireza; Sichani, Mehrdad Mohammadi; Asl-Zare, Mohammad; Ali Beigi, Faramarz Mohammad; Najjaran, Vahid; Abedinzadeh, Mehdi



In utero Repair of Myelomeningocele: Rationale, Initial Clinical Experience and a Randomized Controlled Prospective Clinical Trial  

Microsoft Academic Search

Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Arnold-Chiari II malformation, incontinence, sexual dysfunction, skeletal deformations, and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Studies in animals provide compelling evidence that the primary cause of the neurological deficit associated with MMC is not

Enrico Danzer; Alan W. Flake



Long-term results of hybrid endovascular repair for thoraco-abdominal aortic aneurysms  

Microsoft Academic Search

Objective: The treatment of thoraco-abdominal aortic aneurysms (TAAAs) is extremely laborious, due to the surgical complexity of this condition. In particular, postoperative spinal paraplegia poses a severe complication that significantly lowers patient's quality of life. In 1997, we devised a hybrid procedure consisting of extended endovascular aortic repair (EVAR) and visceral reconstruction. In this article, we report the long-term results

Toru Kuratani; Masaaki Kato; Yukitoshi Shirakawa; Kazuo Shimamura; Yoshiki Sawa



Safety Belt Education Using Visual Crash Images and Low-Cost Incentives.  

ERIC Educational Resources Information Center

|Describes a community-based safety belt promotional program held at 10 public high schools. Safety belt assemblies, which created vivid crash images, were conducted using police officers, ambulance personnel, people with paraplegia, and athletes. Incentives were awarded to buckled students over 10 weeks. The program resulted in increased safety…

Bross, Michael H.; Spellicy, Martin J.



Muscle strength changes as measured by dynamometry following functional rehabilitation in individuals with spinal cord injury  

Microsoft Academic Search

Objective: To objectively quantify muscle strength changes over the course of functional rehabilitation and up to 15 months postdischarge in individuals with spinal cord injury (SCI).Method: Hand-held dynamometry was used to evaluate the strength of six muscle groups in 31 individuals after acute SCI (tetraplegia, n = 13, paraplegia, n = 18). Assessment was performed by a single research therapist

Mélanie Drolet; Luc Noreau; Joëlle Vachon; Hélène Moffet



Traumatic aortic rupture: recent outcome with regard to neurologic deficit  

Microsoft Academic Search

Background. Traumatic aortic rupture is highly lethal, and its surgical treatment is complicated by a high rate of paraplegia.Methods. The charts of 263 patients with traumatic aortic rupture from vehicular accidents treated between 1971 and 1998 were reviewed. Patients were grouped according to four periods: group 1, 1971 to 1975, (n = 31); group 2, 1976 to 1985, (n =

Safuh Attar; Marcelo G. Cardarelli; Stephen W. Downing; Aurelio Rodriguez; Douglas C. Wallace; Robert S. West; Joseph S. McLaughlin



Huge Retroperitoneal Germinoma Presenting with Pathological Fracture of the Spine  

Microsoft Academic Search

Primary retroperitoneal germ cell tumors are extremely rare neoplasms. The most com- mon presenting features are abdominal pain and palpable abdominal masses. Pathological fractures of the spine presenting as bilateral lower leg weakness are exceptionally rare. We describe a 16-year-old girl who developed progressive paraplegia after a minor falling injury. Radiological study demonstrated a huge retroperitoneal tumor with invasion of

Wen-Ching Tzaan; Chin-Yew Lin; Shu-Hang Ng; Jen-Seng Huang


Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration  

Microsoft Academic Search

The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative dis- eases characterized by selective axonal loss in the corticospinal tracts and dorsal columns. Although numerous mechanisms involving defective subcellular transportation, mitochondrial malfunction, and increased oxidative stress have been proposed, the pathogenic basis underlying the neuronal loss is unknown. We have performed linkage analysis to

Maria K. Tsaousidou; Karim Ouahchi; Tom T. Warner; Yi Yang; Michael A. Simpson; Philip A. Wilkinson; Ricardo E. Madrid; Heema Patel; Faycal Hentati; Afif Hentati; Philippa J. Lamont; Teepu Siddique; Andrew H. Crosby



Spinal arteriovenous malformation  

Microsoft Academic Search

An 11-year-old girl presented with acute onset of paraplegia with bowel and bladder incontinence. She had spinal tenderness\\u000a and a sensory level at mid thoracic region. MRI spine revealed an intradural extramedullary arterio-venous malformation with\\u000a hemorrhage into the intramedullary region. Hence a diagnosis of spinal arterio-venous malformation was entertained.

S. Balasubramanian; So. Shivbalan; Sandeep D. Jaipurkar



Energetics in the pathogenesis of neurodegenerative diseases  

Microsoft Academic Search

Mitochondria have been linked to both necrotic and apoptotic cell death, which are thought to have a major role in the pathogenesis of neurodegenerative diseases. Recent evidence shows that nuclear gene defects affecting mitochondrial function have a role in the pathogenesis of Friedreich’s ataxia, Wilson’s disease and hereditary spastic paraplegia. There is also accumulating evidence that mitochondrial dysfunction might have

M. Flint Beal



Pathophysiology of Hydrocephalus  

Microsoft Academic Search

The three major clinical manifestations of spina bifida (hydrocephalus, paraplegia and urinary and bowel incontinence) are\\u000a easily observable and have been described since ancient times, though they were not described in relationship to spina bifida\\u000a until the seventeenth century [1].

Giuseppe Cinalli; Pietro Spennato; Maria Consiglio Buonocore; Emilio Cianciulli; Matthieu Vinchon; Spyros Sgouros


MR Imaging and Proton MR Spectroscopy in Adult Krabbe Disease  

Microsoft Academic Search

Summary: We present the MR imaging findings in four patients (two pairs of siblings from two unrelated families) with adult Krabbe disease. In the first family, clinical pre- sentation mimicked familial spastic paraplegia. Their MR images showed selective, increased signal intensity on T2- weighted sequences along the corticospinal tracts, most prominently in the proband and barely detectable in her brother.

Laura Farina; Alberto Bizzi; Gaetano Finocchiaro; Davide Pareyson; Angelo Sghirlanzoni; Barbara Bertagnolio; SakkuBai Naidu; Bhim S. Singhal; David A. Wenger



Body Integrity Identity Disorder: The Persistent Desire to Acquire a Physical Disability  

Microsoft Academic Search

Background: Body integrity identity disorder (BIID) is a rare and unusual psychiatric condition characterized by a persistent desire to acquire a physical disability (e.g., amputation, paraplegia) since childhood that to date has not been formally described in the psychiatric nosology. Most BIID sufferers experience a chronic and dysphoric sense of inappropriateness regarding their being able-bodied, and many have been driven

Michael B. First; Carl E. Fisher



Encapsulation of organic field effect transistors for flexible biomedical microimplants  

Microsoft Academic Search

Biomedical microimplants are used as neural prostheses to restore body functions after paraplegia by means of functional electrical stimulation (FES). This paper describes an approach of the integration of organic transistors into flexible biomedical microimplant for FES use. Encapsulation is used to ensure the electrical functionality of implants (insulation) and to protect them from the harsh environments in the human

Dara Feili; Martin Schuettler; Thomas Doerge; Sascha Kammer; Thomas Stieglitz



Role of motor-evoked potential monitoring in conjunction with temporary clipping of spinal nerve roots in posterior thoracic spine tumor surgery  

Microsoft Academic Search

Background contextThe vascular supply of the thoracic spinal cord depends on the thoracolumbar segmental arteries. Because of the small size and ventral course of these arteries in relation to the dorsal root ganglion and ventral root, they cannot be reliably identified during surgery by anatomic or morphologic criteria. Sacrificing them will most likely result in paraplegia.

Mohammed A. Eleraky; Matthias Setzer; Ioannis D. Papanastassiou; Ali A. Baaj; Nam D. Tran; Kiesha M. Katsares; Frank D. Vrionis



Neurological issues  

Microsoft Academic Search

The case histories of two patients who had had a spinal cord injury (SCI) were selected by the senior author and sent to four experts in the field of SCI. Based on the 1992 American Spinal Injury Association (ASIA) and International Medical Society of Paraplegia (IMSOP) standards, the four participants plus the senior author recorded the motor and sensory scores,

William H Donovan; Douglas J Brown; John F Ditunno Jr; Paul Dollfus; Hans L Frankel



Functional recovery in chronic paraplegic rats after co-grafts of fetal brain and adult peripheral nerve tissue  

Microsoft Academic Search

BACKGROUNDIn recent years, experimental studies have sought some type of functional improvement in traumatic paraplegia by transplanting neural tissue into the injured spinal cord. The aim of this work is to study the possibility of functional recovery in chronic paraplegic rats after co-transplantation of fetal cerebral tissue and adult peripheral nerve tissue.METHODSSeventy adult female Wistar rats were subjected to spinal

Mercedes Zurita; Jesús Vaquero; Santiago Oya; Jesús Montilla



Neurology and the kidney  

Microsoft Academic Search

Renal failure is relatively common, but except in association with spina bifida or paraplegia it is unlikely to occur as a result of disease of the CNS. Renal failure, however, commonly affects the nervous system. The effects of kidney failure on the nervous system are more pronounced when failure is acute. In addition to the important problems related to renal

D J Burn; D Bates



Spinal cord injuries associated with vertebral fractures and dislocations  

Microsoft Academic Search

During the period 1968–1975, 11 patients with paraplegia and 19 with tetraplegia were treated at the Central Hospital of Tampere. The mean age of the patients was 33 years. The spinal cord injury was sustained in a traffic accident in 11 cases, at work in 6 and at home or during leisure hours in 13. The injury was due to

M. Härkönen; P. Lepistö; T. Paakkala; H. Pätiälä; P. Rokkanen



Spinal-cord compression caused by vertebral haemangioma relieved by percutaneous catheter embolisation: 15 years later  

Microsoft Academic Search

In this journal a case report was published in 1972 concerning a patient with paraplegia due to spinalcord compression caused by a vertebral haemangioma [1]. The patient was treated by embolisation and additional radiotherapy. At that time the results 7 months after embolisation were reported. The patient was in excellent condition. Recently the neurologist who had referred the patient and

R. E. M. Hekster; L. J. Endtz



The Fly as a Model for Neurodegenerative Diseases: Is It Worth the Jump?  

Microsoft Academic Search

Neurodegenerative diseases are responsible for agonizing symptoms that take their toll on the fragile human life. Aberrant protein processing and accumulation are considered to be the culprits of many classical neurodegenerative diseases such as Alzheimer’s disease, tauopathies, Parkinson’s disease, amyotrophic lateral sclerosis, hereditary spastic paraplegia and various polyglutamine diseases. However, recently it has been shown that toxic RNA species or

Ruben J. Cauchi; Marcel van den Heuvel



Comparison of Heart Rate Response to Tennis Activity between Persons with and without Spinal Cord Injuries: Implications for a Training Threshold  

ERIC Educational Resources Information Center

|The purpose of this study was to evaluate the ability of individuals with spinal cord injury (SCI) to reach a training threshold during on-court sport activity. Monitors collected heart rate (HR) data every 5 s for 11 wheelchair tennis players (WCT) with low paraplegia and 11 able-bodied controls matched on experience and skill level (ABT).…

Barfield, J. P.; Malone, Laurie A.; Coleman, Tristica A.



Hyperpyrexia in spinal injury patients  

Microsoft Academic Search

We studied 13 spinal injury patients who had hyperpyrexia during an 18 month period (September 1984—March 1986) to discover if differences existed in the core temperature of patients with tetraplegia and those with paraplegia, and the contribution of these differences to the final outcome. Children were excluded from this study as well as patients with any sign of infection on

A Essiet; O Onuba



Posttraumatic Stress Disorder in Veterans with Spinal Cord Injury: Trauma-related Risk Factors  

Microsoft Academic Search

Trauma-related risk factors for posttraumatic stress disorder (PTSD) were examined in a sample of 125 veterans with spinal cord injury. Category of injury was found to be the most consistent predictor of PTSD diagnosis and symptom severity with paraplegia predicting more PTSD symptoms than quadriplegia. The occurrence of a head injury at the time of the trauma was found to

Cynthia L. Radnitz; Louis Hsu; Jeffrey Willard; Lysandra Perez-Strumolo; Joanne Festa; Lynn B. Lillian; Stacey Walczak; Dennis D. Tirch; Ilana S. Schlein; Martin Binks; Charles P. Broderick



The impact of assuming the primary caregiver role following traumatic spinal cord injury: An interpretative phenomenological analysis of the spouse's experience  

Microsoft Academic Search

This study aimed to explore the lived experience of assuming the primary caregiver role in a group of spouses of individuals living with a traumatic spinal cord injury (SCI) (injuries ranged from paraplegia to quadriplegia). Individual in-depth interviews were conducted with 11 participants who were both the spouse and primary caregiver of an individual with a SCI; of these, 10

Adele Dickson; Grainne O’Brien; Richard Ward; David Allan; Ronan O’Carroll



Swimming for the Handicapped Child and Adult: Occasional Papers No. 10.  

ERIC Educational Resources Information Center

|Outlined are physiological and psychological values of swimming for the handicapped, basic principles and teaching procedures for instructing physically handicapped persons, and specific suggestions for teaching swimming to persons with the following conditions; amputations, polio, paraplegia, cerebral palsy, spina bifida, Legg-Perthes Disease,…

Neishloss, Lou


Expression of cardiovascular and behavioural components of conditioned fear to context in T4 spinally transected rats  

Microsoft Academic Search

A spinal cord transection at the fourth thoracic level (T4) results in paraplegia. It also removes supraspinal control of sympathetic outflow to most viscera and their blood vessels but spares the heart. We studied the effects of such a transection on the expression of the conditioned fear response to context, which includes freezing, 22 kHz ultrasonic vocalisations, a marked pressor

Eun A. Choi; Samuel Leman; Daniel M. L. Vianna; Phil M. E. Waite; Pascal Carrive



Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon  

Microsoft Academic Search

Hereditary spastic paraplegia (HSP) is characterized by the specific retrograde degeneration of the longest axons in the central nervous system, the corticospinal tracts. The gene most frequently involved in autoso- mal dominant cases of this disease, SPG4, encodes spastin, an ATPase belonging to the AAA family. AAA proteins are thought to exert their function by the energy-dependent rearrangement of protein

Alessia Errico; Pamela Claudiani; Marilena D'Addio; Elena I. Rugarli



Nutrient Intake and Body Habitus After Spinal Cord Injury: An Analysis by Sex and Level of Injury  

PubMed Central

Background/Objectives: To examine nutrient intake and body mass index (BMI) in the spinal cord injury (SCI) population according to level of injury and sex. Design: Cross-sectional study conducted at 2 SCI treatment centers. Participants/Methods: Seventy-three community-dwelling individuals with C5-T12 ASIA Impairment Scale (AIS) A or B SCI. Subjects were divided into 4 groups: male tetraplegia (N = 24), male paraplegia (N = 37), female tetraplegia (N = 1), and female paraplegia (N = 11). Mean age was 38 years; 84% were male; 34% were white, 41% were African American, and 25% were Hispanic. Participants completed a 4-day food log examining habitual diet. Dietary composition was analyzed using Food Processor II v 7.6 software. Results: Excluding the 1 woman with tetraplegia, total calorie intake for the other 3 groups was below observed values for the general population. The female paraplegia group tended to have a lower total calorie intake than the other groups, although macronutrient intake was within the recommended range. The male tetraplegia group, male paraplegia group, and the 1 woman with tetraplegia all had higher than recommended fat intake. Intake of several vitamins, minerals, and macronutrients did not meet recommended levels or were excessively low, whereas sodium and alcohol intake were elevated. Using adjusted BMI tables, 74.0% of individuals with SCI were overweight or obese. Conclusions: Women with paraplegia tended to maintain healthier diets, reflected by lower caloric and fat intakes, fewer key nutrients falling outside recommended guidelines, and less overweight or obesity. Individuals with tetraplegia tended to take in more calories and had higher BMIs, and using adjusted BMI, the majority of the population was overweight or obese. The majority of people with SCI would benefit from nutritional counseling to prevent emerging secondary conditions as the population with SCI ages.

Groah, Suzanne L; Nash, Mark S; Ljungberg, Inger H; Libin, Alexander; Hamm, Larry F; Ward, Emily; Burns, Patricia A; Enfield, Gwen



The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.  


Eight mutations in the ALS2 gene have been described as causing autosomal-recessive juvenile-onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. All mutations are small deletions that are predicted to result in a frameshift and premature truncation of the alsin protein. Here we describe a ninth ALS2 mutation, in two siblings affected by infantile-onset ascending spastic paraplegia with bulbar involvement. This mutation is predicted to result in the substitution of an amino acid by a stop codon, and thus is the first nonsense mutation detected in this gene. It is probable that full-length alsin is required for the proper development and/or functioning of upper motor neurons. PMID:12919135

Devon, R S; Helm, J R; Rouleau, G A; Leitner, Y; Lerman-Sagie, T; Lev, D; Hayden, M R



Spinal anaesthesia for caesarean section in the presence of respiratory failure and spinal metastases from a soft tissue clear cell sarcoma.  


Spinal metastases occur in up to 70% of all patients with cancer. However, only 10% are symptomatic. Before considering central neuraxial blockade in patients with malignancy, a history of back pain should be excluded. Anaesthetists should be aware that intrathecal and epidural injections could cause paraplegia if metastases are impinging on the spinal cord. Failure to achieve adequate sensory anaesthesia after central neuraxial blockade or presentation with postoperative paraplegia may indicate the presence of asymptomatic vertebral canal metastases. In this report, the anaesthetic management of a patient with respiratory failure and spinal metastases from a soft tissue sarcoma, requiring caesarean section is described. Sensory anaesthesia extending above a level of imminent cord compression was achieved despite loss of cerebrospinal fluid signal on magnetic resonance imaging. PMID:23809016

Miskovic, A M; Dob, D P



CT-guided transforaminal cervical and lumbar epidural injections.  


Transforaminal injections are widely used. Serious complications including strokes and paraplegia have been reported after transforaminal injections of corticosteroids, and the Afssaps (2011) has issued a warning about their use [1]. The needle must be positioned in the posterior aspect of foramen, and its correct placement validated by an injection of contrast product. It is preferable to choose cortivazol (Altim(®)) as the corticoid for injection. This procedure is simple, reproducible, and durably effective in 60 to 70% of cases. Complications and adverse effects are rare but potentially serious: allergies, blood pressure surge, vasovagal syncope, transient exacerbation of pain, infection, stroke, and paraplegia. The aim of this course is to stress the need for rigor - in the indication, the technical performance of the procedure, and the overall management of the patient. PMID:22925592

Depriester, C; Setbon, S; Larde, A; Malaquin, E; Vanden Abeele, B; Bocquet, J



Aortic thromboembolism associated with Spirocerca lupi infection.  


A 2-year-old male castrated Cavalier King Charles Spaniel was presented with paraplegia, cold caudal extremities and lack of femoral pulses. A 2cm long thrombus occluding the aortic trifurcation and a 3cm long abdominal aortic aneurysm with a thrombus were detected by ultrasonographic examination. The clinical and ultrasonographic findings were consistent with aortic thromboembolism. Anti-thrombotic and vasodilative therapy was not helpful and the dog was euthanized 3 days after the onset of paraplegia. A thrombus in the aortic trifurcation, multiple thoracic and abdominal aneurysms and a distal mediastinal esophageal granuloma containing Spirocera lupi worms were found on necropsy. The abdominal aortic aneurysms formed by S. lupi larval migration are believed to be responsible for the formation of the thrombus that occluded the aortic trifurcation. This is the first report of aortic thromboembolism associated with S. lupi infection. PMID:15893430

Gal, Arnon; Kleinbart, Sigal; Aizenberg, Zahi; Baneth, Gad



Posterior listhesis of a lumbar vertebra in spinal tuberculosis  

Microsoft Academic Search

The management of spinal tuberculosis, especially in children, is controversial. In children, vertebral destruction is more\\u000a severe than adults because of the cartilaginous nature of their bone. Modern chemotherapy has significantly decreased mortality\\u000a in spinal tuberculosis, but morbidity remains high. Without early surgery, patients can develop severe kyphosis leading to\\u000a respiratory insufficiency, painful costopelvic impingement and paraplegia. Lumbar kyphosis results

Matthew Anthony Kirkman; Krishnamurthy Sridhar



Canine thoracolumbar invertebral disk disease: pathophysiology, neurologic examination, and emergency medical therapy.  


Thoracolumbar intervertebral disk disease (IVDD) is a common, important cause of paraspinal hyperesthesia, pelvic limb ataxia, paraparesis, paraplegia, and urinary and fecal incontinence in dogs. Research offers insights into the pathophysiology, diagnosis, prognosis, and treatment of this disorder. The comparative efficacy of many familiar therapies remains unknown and controversial. This article reviews the pathophysiology and epidemiology of this condition and the examination and emergency medical therapy of dogs with suspected thoracolumbar IVDD. PMID:19412899

Griffin, John F; Levine, Jonathan; Kerwin, Sharon



Acute intraparenchymal spinal cord injury in a cat due to high-rise syndrome  

PubMed Central

A 9-year-old spayed female Bengal Red cat was evaluated for high-rise syndrome. The cat had paraplegia of the hind limbs, intact reflexes and pain perception, and hyperesthesia in the caudal thoracic area. Mentation, cranial nerve function, forelimb proprioceptive responses, and spinal reflexes were normal. There were no abnormalities on radiographs or computed tomography scan, but magnetic resonance imaging revealed a hyperintense intraparenchymal spinal cord lesion on T2-weighted and T2 fat saturation images.

Cruz-Arambulo, Robert; Nykamp, Stephanie



Non-assisted treadmill training does not improve motor recovery and body composition in spinal cord-transected mice  

Microsoft Academic Search

Study design:Experiments in a mouse model of complete paraplegia.Objectives:To evaluate the effect of non-assisted treadmill training on motor recovery and body composition in completely spinal cord-transected mice.Settings:Laval University Medical Center, Neuroscience Unit, Quebec City, Quebec, Canada.Methods:Following a complete low-thoracic (Th9\\/10) spinal transection (Tx), mice were divided into two groups that were either untrained or trained with no assistance. Training consisted

R V Ung; N P Lapointe; P Rouleau; P A Guertin; PA Guertin



The colon, anorectum, and spinal cord patient  

Microsoft Academic Search

As humans have become more mechanized, the number of persons sustaining spinal cord injuries resulting in quadriplegia or\\u000a paraplegia has increased. Because colorectal function is modulated by a combination of neural, hormonal, and luminal influences,\\u000a many of the normal regulatory mechanisms remain intact in patients with spinal cord injuries. Management of these patients,\\u000a however, requires an understanding of altered function

Walter E. Longo; Garth H. Ballantyne; Irvin M. Modlin



Spinal Cord Ischemia  

Microsoft Academic Search

\\u000a Despite many advances and an improved understanding of spinal cord anatomy and the pathogenesis of spinal ischemia, the rates\\u000a of debilitating postoperative paraparesis or paraplegia are still not negligible after an open procedure for treatment of\\u000a thoracic or thoraco-abdominal pathology. Individual studies have demonstrated the role of different treatment modalities to\\u000a prevent or treat spinal cord ischemia; however, a multimodal

Germano Melissano; Luca Bertoglio; Efrem Civilini; Roberto Chiesa


Sports-related spinal cord injury in Japan (From the nationwide spinal cord injury registry between 1990 and 1992)  

Microsoft Academic Search

The Injury Prevention Committee of the Japan Medical Society of Paraplegia (JMSoP) conducted a nationwide epidemiological survey on spinal cord injury (SCI) using postal questionnaires for 3 years periods from 1990 to 1992, and the annual incidence of the spinal cord injury was estimated as 40.2 per million. From this registry, we investigated SCI related to sports activities.In 3 years,

Shinsuke Katoh; Hikosuke Shingu; Takaaki Ikata; Eiji Iwatsubo



Interscalene Regional Anesthesia in the Prevention of Autonomic Hyperreflexia in a Quadriplegic Patient Undergoing Shoulder Surgery  

Microsoft Academic Search

he patient was a 23-yr-old woman who had suf- fered a cervical spinal cord injury while playing basketball at age 16 yr. Her medical history was significant for C3-4 paraplegia and paralyzed right hemidiaphragm. She had a history of repeated epi- sodes of severe right upper extremity muscle spasms that sometimes woke her from sleep. The shoulder bruising that followed

Ali Habibi; Clifford Schmeising; J. C. Gerancher



L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling  

Microsoft Academic Search

Mutations in the gene encoding neural cell adhesion molecule L1 (L1CAM) are involved in X-linked hydrocephalus (HSAS, hydrocephalus due to stenosis of the aqueduct of Sylvius), MASA syndrome (mental retardation, aphasia, shuffling gait, and adducted thumbs), and spastic paraplegia type 1. We examined the L1CAM mutation in a Japanese family with HSAS for the purpose of DNA-based genetic counseling. The

Satoru Takahashi; Yoshio Makita; Nobuhiko Okamoto; Akie Miyamoto; Junichi Oki



Normative values and determinants of physical capacity in individuals with spinal cord injury  

Microsoft Academic Search

Abstract—We reanalyzed,data from five studies with similar or identical methodology,performed by our laboratory to define normative values and determinants of physical capacity in indi- viduals with tetraplegia and paraplegia. Each study consisted of agraded,wheelchair exercise test to determine ,peak oxygen uptake,and maximal ,power ,output and could ,additionally include a wheelchair sprint test to determine short-term (anaer- obic) power output and\\/or

Thomas W. j. Janssen; Annet J. Dallmeijer; Dirkjan Veeger


[Dislocation fracture with transverse spinal lesion caused by a seat belt injury in infant].  


A 21 month old child suffered from a luxation fracture L 1/2 with a complete paraplegia caused by an incorrect used car fastened seat belt. After operative reduction and stabilisation with Harrington-implants there was a slow but nearly complete recovery of sensible and motor functions. Three years after the accident there is only a low grade deformity in the upper lumber spine. PMID:1829303

Winter, M


ORIGINAL CONTRIBUTION Measuring Tissue Perfusion During Pressure Relief Maneuvers: Insights Into Preventing Pressure Ulcers  

Microsoft Academic Search

Background\\/Objective: To study the effect on tissue perfusion of relieving interface pressure using standard wheelchair pushups compared with a mechanical automated dynamic pressure relief system. Design: Repeated measures in 2 protocols on 3 groups of subjects. Participants: Twenty individuals with motor-complete paraplegia below T4, 20 with motor-complete tetraplegia, and 20 able-bodied subjects. Methods: Two 1-hour sitting protocols: dynamic protocol, sitting

Mohsen Makhsous; Michael Priebe; James Bankard; Diana Rowles; Mary Zeigler; David Chen; Fang Lin



Degenerative lumbar spinal stenosis—results of expansive laminoplasty  

Microsoft Academic Search

Expansive laminoplasty, a procedure used more and more often for cervical myelopathy, was carried out in patients with lumbar\\u000a spinal stenosis in the Department of Orthopaedics, Paraplegia, Physical Medicine and Rehabilitation of our institute. Twenty-five\\u000a such clinico-radiologically proven cases were operated upon. For radiological evaluation, computed tomography (CT) was used.\\u000a Expansive laminoplasty decompresses the nerve roots by osteoplastic enlargement of

S. S. Sangwan; Zile Singh Kundu; Pankaj Walecha; R. C. Siwach; Pradeep Kamboj; Raj Singh



Patterns of non-traumatic myelopathies in Yaoundé (Cameroon): a hospital based study  

Microsoft Academic Search

BackgroundThe relative frequency of compressive and non-compressive myelopathies and their aetiologies have not been evaluated extensively in most sub-Saharan African countries. The case of Cameroon is studied.MethodsAdmission registers and case records of patients in the neurology and neurosurgery departments of the study hospital were reviewed from January 1999 to December 2006.Results224 (9.7% of all admissions) cases were non-traumatic paraplegia\\/paraparesis or

Alain Zingraff Lekoubou Looti; André Pascal Kengne; Vincent de Paul Djientcheu; Callixte T Kuate; Alfred K Njamnshi



Apoptosis of oligodendrocytes occurs for long distances away from the primary injury after compression trauma to rat spinal cord  

Microsoft Academic Search

We evaluated by in situ nick end labeling the presence of apoptotic glial cells in the spinal cord of rats which have sustained\\u000a a moderate and severe compression injury at the level of T8–9, resulting in a severe but reversible paraparesis and irreversible\\u000a paraplegia, respectively. In a previous investigation we found apoptotic glial cells (oligodendrocytes) in the immediate vicinity\\u000a of

Gui Lin Li; Mohammad Farooque; Anders Holtz; Yngve Olsson



Shoulder kinematics and kinetics during two speeds of wheelchair propulsion  

Microsoft Academic Search

The primary objective of this study was to examine the kinematics and kinetics of the shoulder during wheelchair pro- pulsion at a slow and moderate speed. Twenty-seven individuals with paraplegia propelled their wheelchairs at speeds of 0.9 m\\/s and 1.8 m\\/s while a motion analysis system captured movements of their upper limbs and SMARTWheels simultaneously recorded their pushrim kinetics. Intraclass

Alicia M. Koontz; Rory A. Cooper; Michael L. Boninger; Aaron L. Souza; Brian T. Fay


The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu 1 O.C. and G.N. share first authorship. 1 2 EMBL Accession Nos. Z29373 and Z71926. 2  

Microsoft Academic Search

The human gene for the neural cell adhesion molecule L1 is located on Xq28 between the ALD and MeCP2 loci. Mutations in the L1 gene are associated with four related neurological disorders, X-linked hydrocephalus, spastic paraplegia (SPG1), MASA syndrome, and X-linked corpus callosum agenesis. The clinical relevance of L1 has led us to sequence the L1 gene in human and

Oliver Coutelle; Gerald Nyakatura; Stefan Taudien; Greg Elgar; Sydney Brenner; Matthias Platzer; Bernd Drescher; Monique Jouet; Sue Kenwrick; André Rosenthal



Instrumented stabilization in spinal tuberculosis  

Microsoft Academic Search

Spinal tuberculosis (TB) produces neurological complications and grotesque spinal deformity, which in children increases even\\u000a with treatment and after achieving healing. Long-standing, severe deformity leads to painful costo-pelvic impingement, respiratory\\u000a distress, risk of developing late-onset paraplegia and consequent reduction in quality and longevity of life. The treatment\\u000a objective is to avoid the sequelae of neural complications and achieve the healed

Anil Kumar Jain; Saurabh Jain


Epidurals, spinals and bleeding disorders in pregnancy: a review.  


Paraplegia caused by spinal haemorrhage is a very rare but disastrous complication of spinal or epidural insertion. The risk in uncomplicated surgical and obstetric patients is outlined. Bleeding disorders in pregnant patients may prevent the use of major regional anaesthesia. Factors which influence the choice of anaesthetic technique for patients with pregnancy-induced hypertension, von Willebrand's disease, and anticoagulation therapy, are discussed. PMID:2221324

Sage, D J



Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations  

Microsoft Academic Search

Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are X-linked developmental defects of myelin formation affecting the central nervous system (CNS). They differ clinically in the onset and severity of the motor disability but both are allelic to the proteolipid protein gene (PLP), which encodes the principal protein components of CNS myelin, PLP and its spliced isoform, DM20. We

Fabrice Cailloux; Fernande Gauthier-Barichard; Corinne Mimault; Valerie Isabelle; Virginie Courtois; Geneviève Giraud; Bernard Dastugue; Odile Boespflug-Tanguy



Reported pressure ulcer prevention and management techniques by persons with spinal cord injury  

Microsoft Academic Search

Objective: The purpose of this study was to identify factors that resulted in severe pressure ulcers in a community-based sample of 23 persons with spinal cord injury (SCI).Design: A correlational design was used.Subjects: Twenty men and three women, 57% with tetraplegia and 43% with paraplegia, participated. Adult participants with an ulcer of 12 weeks' duration or less were recruited from

Susan L. Garber; Diana H. Rintala; C. Don Rossi; Karen A. Hart; Marcus J. Fuhrer



Dysplasie fibreuse polyostotique du rachis dorsal. Cas clinique et revue de la littérature  

Microsoft Academic Search

Polyostotic fibrous dysplasia of the thoracic spine is extremely rare and considered a benign disease. We report the case of a 46-year-old woman admitted to the emergency department for subacute paraplegia. The spinal X-ray showed a spontaneous fracture at the T4–T5 level. The CT scan revealed a tumor infiltration of the vertebral body responsible for lysis. Spinal MRI confirmed the

M. Ould Slimane; E. Foulongne; S. Derrey; P. Fréger; F. Proust



Anterior approach to the second thoracic vertebral body for surgical treatment (vertebrectomy, bone grafting, and titanium alloy plate fixation)  

Microsoft Academic Search

The surgical approach to the second thoracic vertebral body is difficult from the anterior side. A 38-year-old woman suffering\\u000a from plasmacytoma in the second thoracic vertebra showed paraplegia for 2 weeks prior to surgery. X-ray, computed tomography\\u000a (CT), and magnetic resonance imaging (MRI) examinations indicated breakdown of the second thoracic vertebral body and arch,\\u000a associated with spinal cord compression. A

Z. Fang; X. Yi; M. Li; T. Zhu



Extraosseous epidural multiple myeloma presenting with thoracic spine compression  

Microsoft Academic Search

Multiple myeloma is a hematopoetic disorder and multicentric disease, with the most common localisation being the spine. A 47-year-old male presented with progressive paraplegia, superficial and deep sensory disturbance below the level of T4. Spinal magnetic resonance image showed an epidural mass compressing the spinal cord at the level of T4–T6 with intact bone structure. The patient underwent surgical T4–T6

Naama Okacha; Elasri Chrif; Elmostarchid Brahim; Akhaddar Ali; Elbouzidi Abderrahman; Miloudi Gazzaz; Belhachmi Adil; Kadiri Bouchaib; Boucetta Mohamed



ALS2\\/Alsin Knockout Mice and Motor Neuron Diseases  

Microsoft Academic Search

Autosomal recessive mutations in the ALS2 gene have been linked to juvenile-onset amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis and juvenile-onset ascending hereditary spastic paraplegia. Except for two recently identified missense mutations, all other mutations in the ALS2 gene lead to a premature stop codon and likely abrogate all the potential functions of alsin, the protein encoded by the ALS2

Huaibin Cai; Hoon Shim; Chen Lai; Chengsong Xie; Xian Lin; Wan Jou Yang; Jayanth Chandran



Alsin and the Molecular Pathways of Amyotrophic Lateral Sclerosis  

Microsoft Academic Search

Autosomal recessive mutations in the ALS2 gene lead to a clinical spectrum of motor dysfunction including juvenile onset amyotrophic lateral sclerosis (ALS2), primary\\u000a lateral sclerosis, and hereditary spastic paraplegia. The 184-kDa alsin protein, encoded by the full-length ALS2 gene, contains three different guanine-nucleotide-exchange factor-like domains, which may play a role in the etiology of\\u000a the disease. Multiple in vitro biochemical

Jayanth Chandran; Jinhui Ding; Huaibin Cai



Spinal cord injury, coping and psychological adjustment: a literature review  

Microsoft Academic Search

Objectives:This paper reviews the literature concerning psychological adjustment to spinal cord injury, focusing on the recent methodological developments and new directions in research.Method:Several literature reviews using the search terms Spinal Cord Injury, Paraplegia, Coping and Adjustment were undertaken using the databases in Pubmed, Medline and Embase. The papers that were published from 2001 onwards, written in English and used a

Z Chevalier; P Kennedy; O Sherlock



ORIGINAL CONTRIBUTION Body Mass Index and Body Composition Measures by Dual X-Ray Absorptiometry in Patients Aged 10 to 21 Years With Spinal Cord Injury  

Microsoft Academic Search

Background\\/Objective: To determine the body composition of adolescents with spinal cord injury (SCI) and to assess whether established cutoff values for obesity determined by body mass index (BMI) are valid for this population. Methods: Sixty patients, aged 10-21 years, with traumatic SCI (50 with paraplegia and 10 with tetraplegia) were compared with 60 gender-, age-, and BMI-matched controls (CTRL). Dual-energy

Craig M. McDonald; Allison L. Abresch-Meyer; Mindy Dopler Nelson; Lana M. Widman


Anterior Thoracic Extradural Hematoma in a 5YearOld Child  

Microsoft Academic Search

Four hours following a motor vehicle accident, a 5-year-old girl developed a complete motor and sensory paraplegia below the sixth thoracic level (T6). The plain X-rays and MRI scan identified nondisplaced compression fractures of the T3–T6 vertebrae, associated with an anterior T3–T5 epidural hematoma. Following an emergency T3–T6 laminectomy, the sensory findings disappeared, while the motor deficit took 2 weeks

Nancy E. Epstein; Mark Gilder; Karen Black



Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28  

Microsoft Academic Search

This study reports the characterization of a novel human gene, chromosome 3 open reading frame 6 (C3orf6), mapped to chromosome 3q28, within the critical region of hereditary spastic paraplegia SPG14 locus. Based on computational “spliced” EST alignment and RT-PCR, two C3orf6 transcript variants were identified. The longer C3orf6 transcript contains a 1449-nt ORF, encoding a protein of 482 aa, while

G. Vazza; S. Picelli; A. Bozzato; M. L. Mostacciuolo



A MAP Kinase-Signaling Pathway Mediates Neurite Outgrowth on L1 and Requires Src-Dependent Endocytosis  

Microsoft Academic Search

The neural cell adhesion molecule L1 mediates the axon out- growth, adhesion, and fasciculation necessary for proper devel- opment of synaptic connections. Mutations of human L1 cause an X-linked mental retardation syndrome termed CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia, and hydrocephalus), and L1 knock-out mice display defects in neuro- nal process extension resembling the CRASH phenotype. Little is

Ralf-Steffen Schmid; Wendy M. Pruitt; Patricia F. Maness



Increased Osteoclast-Like Cells Formation in Long-Term Bone Marrow Cultures from Patients with a Spinal Cord Injury  

Microsoft Academic Search

.   Patients with a spinal cord section loose a significant amount of bone. After paraplegia, bone loss occurs below the lesional\\u000a level and is the more dramatic in iliac bones and in the metaphyseal area of long bones. A peak of urinary calcium and hydroxyprolinuria\\u000a is observed approximately 6 weeks after their lesion. To further understand the mechanisms underlying the

A. Demulder; M. Guns; A. Ismail; E. Wilmet; P. Fondu; P. Bergmann



Complex regional pain syndrome in a patient with spinal cord injury: management with pulsed radiofrequency lumbar sympatholysis  

Microsoft Academic Search

Study design:Short communication.Objectives:To report a case with bilateral lower extremity complex regional pain syndrome (CRPS) in a patient with paraplegia occurring following spinal disc herniation surgery, who was treated successfully with pulse radiofrequency (PRF) lumbar sympatholysis.Setting:Departments of Physical Medicine and Rehabilitation, Algology Department of Anaesthesiology and Nuclear Medicine, Medical Faculty of Ege University, Izmir, Turkey.Methods:A 55-year-old woman had neuropathic pain

Y Akkoc; M Uyar; J Oncu; Z Ozcan; B Durmaz



Antegrade continence enema for the treatment of neurogenic constipation and fecal incontinence after spinal cord injury  

Microsoft Academic Search

Objective: To describe the effects of an antegrade continence enema stoma formed in a paraplegic man with intractable constipation and fecal incontinence.Design: Case report.Setting: Spinal cord injury unit, Veterans Affairs hospital.Participants: Spinal cord injury (SCI) patient with T12 paraplegia.Intervention: Surgical formation of antegrade continence enema stoma.Main Outcome Measures: Time of bowel program care, ease of fecal elimination, safety of procedure.Results:

Claire C. Yang; Steven A. Stiens



Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression  

Microsoft Academic Search

Mutations in the L1CAM gene cause a highly variable neurological disease described as X-linked hydrocephalus, MASA syndrome or spastic paraplegia type I. Over one-third of the mutations identified in affected boys are missense, unique to individual families and distributed primarily across the large extracellular domain of the L1 protein. We have examined the effects of 25 missense mutations on binding

Elena De Angelis; Alex Watkins; Michael Schäfer; Thomas Brümmendorf; Sue Kenwrick



CRIM1, a novel gene encoding a cysteine-rich repeat protein, is developmentally regulated and implicated in vertebrate CNS development and organogenesis  

Microsoft Academic Search

Development of the vertebrate central nervous system is thought to be controlled by intricate cell-cell interactions and spatio-temporally regulated gene expressions. The details of these processes are still not fully understood. We have isolated a novel vertebrate gene, CRIM1\\/Crim1, in human and mouse. Human CRIM1 maps to chromosome 2p21 close to the Spastic Paraplegia 4 locus. Crim1 is expressed in

G. Kolle; K. Georgas; G. P. Holmes; M. H. Little; T. Yamada



Radiological Evaluation of Myelomeningocele — Chiari II Malformation  

Microsoft Academic Search

Myelomeningocele (MMC) is a malformation characterized by the failure of closure of the neural tube, usually (but not only)\\u000a at the lumbo-sacral level. Synonyms are spina bifida aperta, open spinal dysra — phism, and Chiari II malformation complex.\\u000a MMC is typically associated with a metamerically consistent paraplegia, a posterior fossa deformity known as the Chiari II\\u000a malformation, hydrocephalus, and a

Charles Raybaud; Elka Miller


Severe delayed diffuse cerebral vasospasm and cerebral infarctions following spinal subdural hemorrhage  

Microsoft Academic Search

Background. We report a rare case of severe delayed cerebral vasospasm with cerebral infarctions after spinal subdural hemorrhage. Case report. A 56-year-old woman presented with an acute onset of paraplegia. MR-imaging revealed an extensive intraspinal hemorrhage reaching from T1 to L1. The hematoma was evacuated via a T8-laminectomy. At the 7 th postoperative day the patient developed visual disturbances. MR-scanning

M. Setzer; S. Weidauer; M. Zimmermann; J. Berkefeld; V. Seifert; A. Raabe



Calculus anuria in a spina bifida patient, who had solitary functioning kidney and recurrent renal calculi  

Microsoft Academic Search

Study design: Clinical case report with comments by colleagues from Austria, Belgium, Germany, Japan, and Poland.Objectives: To discuss challenges in the management of spinal bifida patients, who have marked kyphoscoliosis and no vascular access.Setting: Regional Spinal Injuries Centre, Southport, UK.Methods: A female patient, who was born with spina bifida, paraplegia and solitary right kidney, had undergone ileal loop urinary diversion.

S Vaidyanathan; B M Soni; J-J Wyndaele; A Z Buczynski; E Iwatsubo; M Stoehrer; H Madersbacher; R Peschel; G Singh; J W H Watt; P L Hughes; P Sett



Hemodynamic infarction of the spinal cord: involvement of the gray matter plus the border-zone between the central and peripheral arteries  

Microsoft Academic Search

Objective:Hemodynamic infarction of the spinal cord that affected an 81-year-old female having a dissecting aortic aneurysm is presented. During the graft replacement operation, systemic hypotension occurred and the patient was subsequently complicated with paraplegia of the lower limbs. The patient died 2 weeks after the surgery due to gastrointestinal bleeding. An autopsy, which did not include the brain, was performed

K Ishizawa; T Komori; T Shimada; E Arai; K Imanaka; S Kyo; T Hirose



Aortic thromboembolism associated with Spirocerca lupi infection  

Microsoft Academic Search

A 2-year-old male castrated Cavalier King Charles Spaniel was presented with paraplegia, cold caudal extremities and lack of femoral pulses. A 2cm long thrombus occluding the aortic trifurcation and a 3cm long abdominal aortic aneurysm with a thrombus were detected by ultrasonographic examination. The clinical and ultrasonographic findings were consistent with aortic thromboembolism. Anti-thrombotic and vasodilative therapy was not helpful

Arnon Gal; Sigal Kleinbart; Zahi Aizenberg; Gad Baneth



Unusual intrathoracic activity of Tc99m sestamibi in a patient with chest pains  

Microsoft Academic Search

A 64-year-old man with a history of hypertension and T-8 paraplegia presented to the emergency department with chest pains and shortness of breath. He underwent a resting myocardial perfusion imaging (MPI) with Tc-99m sestamibi (MIBI). The perfusion images were normal. Incidentally, the anterior planar image revealed extra cardiac circumferential sestamibi activity adjacent to the left ventricle (Figure 1). A computed

Pradeep Bhambhvani; Johnny Scott; Jaekyeong Heo; Ami Iskandrian



Institutional report - Aortic and aneurysmal Major complications following endovascular surgery of descending thoracic aorta  

Microsoft Academic Search

We evaluated the impact of major complications on clinical outcome in a series of patients undergoing endovascular repair (EVAR) of descending thoracic aorta. From March 2001 to June 2005, 51 patients underwent EVAR for descending aortic diseases. Thirty-five were treated in emergency (60.7%) and 41 (80.4%) were in III-IV ASA class. There were no deaths, surgical conversion or paraplegia. A

Luigi Di Tommaso; Mario Monaco; Michele Mottola; Federico Piscione; Antonio Pantaleo; Giovanni Battista Pinna; Paolo Stassano; Gabriele Iannelli



Evaluation of an occupational therapy program for patients with spinal cord injury  

Microsoft Academic Search

Study design:Clinical controlled trial.Objectives:To evaluate the effectiveness of an occupational therapy (OT) program combined with neuromotor rehabilitation, by assessing the degree of functional independence reached by patients with spinal cord injuries at first hospitalization.Settings:Subjects selected from the Spinal Cord Unit of the Rehabilitation Institute of Montecatone (Imola, Italy).Participants:Thirty-six male patients below age 60, with complete paraplegia (ASIA-A) in thoracic-lumbar level,

P Pillastrini; R Mugnai; R Bonfiglioli; S Curti; S Mattioli; M G Maioli; G Bazzocchi; M Menarini; R Vannini; F S Violante



Post-traumatic stress disorder and emotional distress in persons with spinal cord lesion  

Microsoft Academic Search

Study design: Questionnaire.Objective: To evaluate the prevalence of post-traumatic stress disorder (PTSD) and emotional distress in persons with recent onset of spinal cord lesion.Setting: Denmark.Methods: A total of 69 patients with paraplegia or tetraplegia from two rehabilitation centres in Denmark filled in the questionnaire. PTSD and emotional distress were assessed using the Harvard Trauma Questionnaire and the Medical-Based Emotional Distress

M S Nielsen; Nielsen



Functional reach in wheelchair users: The effects of trunk and lower extremity stabilization  

Microsoft Academic Search

Our purpose was to compare the effects of using wheelchair trunk and lower extremity stabilization on sitting trunk mobility and functional reach of wheelchair users. Seven subjects with paraplegia who averaged 35.6 years of age and nine able-bodied control subjects with an average age of 26.0 years participated in this study. Each subject's functional reach in the transverse and sagittal

Kathleen A. Curtis; Christine M. Kindlin; Kathryn M. Reich; Douglas E. White



Traumatic pseudoaneurysm of abdominal aorta in a child  

Microsoft Academic Search

A 6-year-old child sustained blunt abdominal trauma leading to formation of infrarenal aortic pseudoaneurysm eroding the vertebra\\u000a with impairment of blood flow in bilateral lower limbs (absent bilateral femoral pulsations) and paraplegia. Resection of\\u000a aneurysm was done alongwith reconstruction of aorta and iliac arteries with expended Poly-Tetra-Flouro-Ethylene (e PTFE) patch.\\u000a Right common iliac artery was directly anastomosed to left common

Vikas Goyal; Sanjeev Devgarha; Kumar Asnani; Chandra Prakash Srivastava



Functional outcomes attained by T9-12 paraplegic patients with the walkabout and the isocentric reciprocal gait orthoses  

Microsoft Academic Search

Objective: To compare the functional outcomes attained by persons with paraplegia using the Walkabout Orthosis (WO) and the Isocentric Reciprocal Gait Orthosis (IRGO).Design: A randomized crossover design.Patients: Ten subjects with complete lesions between T9-T12.Interventions: Over two 8-week periods, subjects were taught to use each orthosis in conjunction with elbow crutches.Main Outcome Measures: After each 8-week training period, subjects were assessed

Lisa A. Harvey; Merrick B. Smith; Glen M. Davis; Stella Engel



Acute spinal cord compression due to epidural lipomatosis complicated by an abscess: magnetic resonance and pathology findings  

PubMed Central

A 68-year-old male presented with rapidly progressive paraplegia. MR images of the thoracic spine were interpreted as being consistent with an abscess within an epidural lipomatosis compressing the spinal cord. Laminectomy was performed, and a large amount of pus was drained from the epidural lipomatosis, from which Staphylococcus aureus was isolated. This is the first reported case of an abscess involving an epidural lipomatosis.

Pipitone, Nicolo; De Carli, Nicola; Vecchia, Luigi; Bartoletti, Stefano C.



Factors Associated With Oral Problems Among Adults With Spinal Cord Injury  

PubMed Central

Objective: To explore factors associated with self-reported current oral (tooth and gum) problems and oral pain in the past 12 months among adults with spinal cord injury. Methods: An online oral health survey on the South Carolina Spinal Cord Injury Association website. Respondents were 192 adult residents of the US who identified themselves as having spinal cord injury at least 1 year before the survey date. Results: Approximately 47% of respondents reported having oral problems at the time of the survey, and 42% reported experiencing oral pain in the 12 months before the survey date. Multiple predictor analyses (controlling for age, gender, income, and dental insurance) indicated that current oral problems were positively associated with dry mouth symptoms, financial barriers to dental care access, smoking, and paraplegia. Oral pain experienced in the past 12 months was positively associated with dry mouth symptoms, financial barriers to dental care access, minority race, and paraplegia. Conclusions: Adults with spinal cord injury reported a high prevalence of oral problems and oral pain. Those with paraplegia were more likely to report problems than those with tetraplegia. Because dry mouth and smoking were significantly associated with these problems, patient education from both dental and medical providers should emphasize awareness of the side effects of xerostomia-causing medications, dry mouth management, and smoking cessation. Findings also indicate unmet needs for low-cost preventive and treatment dental services for this vulnerable population.

Yuen, Hon K; Shotwell, Matthew S; Magruder, Kathryn M; Slate, Elizabeth H; Salinas, Carlos F



SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.  


The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite amyotrophic lateral sclerosis according to the revised El Escorial criteria. The exclusion criterion was a diagnosis of hereditary spastic paraplegia with thin corpus callosum in line with an established protocol. Additional pathological and genetic evaluations were also performed. Surprisingly, 12 sequence alterations in the spatacsin gene (one of which is novel, IVS30 + 1 G > A) were identified in 10 unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival. The countries of origin of these families were Italy, Brazil, Canada, Japan and Turkey. The variants seemed to be pathogenic since they co-segregated with the disease in all pedigrees, were absent in controls and were associated with amyotrophic lateral sclerosis neuropathology in one member of one of these families for whom central nervous system tissue was available. Our study indicates that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis. PMID:20110243

Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P; Rogaeva, Ekaterina A; St George-Hyslop, Peter H; Bernardi, Giorgio; Kawarai, Toshitaka



Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure  

PubMed Central

Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the corticospinal tract. Involvement of other neurons can cause additional neurological symptoms, which define a diverse set of complex hereditary spastic paraplegias. We present two siblings who have the unusual combination of early-onset spastic paraplegia, optic atrophy, and neuropathy. Genome-wide SNP-typing, linkage analysis, and exome sequencing revealed a homozygous c.316C>T (p.R106C) variant in the Trk-fused gene (TFG) as the only plausible mutation. Biochemical characterization of the mutant protein demonstrated a defect in its ability to self-assemble into an oligomeric complex, which is critical for normal TFG function. In cell lines, TFG inhibition slows protein secretion from the endoplasmic reticulum (ER) and alters ER morphology, disrupting organization of peripheral ER tubules and causing collapse of the ER network onto the underlying microtubule cytoskeleton. The present study provides a unique link between altered ER architecture and neurodegeneration.

Beetz, Christian; Johnson, Adam; Schuh, Amber L.; Thakur, Seema; Varga, Rita-Eva; Fothergill, Thomas; Hertel, Nicole; Bomba-Warczak, Ewa; Thiele, Holger; Nurnberg, Gudrun; Altmuller, Janine; Saxena, Renu; Chapman, Edwin R.; Dent, Erik W.; Nurnberg, Peter; Audhya, Anjon



Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.  


Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the corticospinal tract. Involvement of other neurons can cause additional neurological symptoms, which define a diverse set of complex hereditary spastic paraplegias. We present two siblings who have the unusual combination of early-onset spastic paraplegia, optic atrophy, and neuropathy. Genome-wide SNP-typing, linkage analysis, and exome sequencing revealed a homozygous c.316C>T (p.R106C) variant in the Trk-fused gene (TFG) as the only plausible mutation. Biochemical characterization of the mutant protein demonstrated a defect in its ability to self-assemble into an oligomeric complex, which is critical for normal TFG function. In cell lines, TFG inhibition slows protein secretion from the endoplasmic reticulum (ER) and alters ER morphology, disrupting organization of peripheral ER tubules and causing collapse of the ER network onto the underlying microtubule cytoskeleton. The present study provides a unique link between altered ER architecture and neurodegeneration. PMID:23479643

Beetz, Christian; Johnson, Adam; Schuh, Amber L; Thakur, Seema; Varga, Rita-Eva; Fothergill, Thomas; Hertel, Nicole; Bomba-Warczak, Ewa; Thiele, Holger; Nürnberg, Gudrun; Altmüller, Janine; Saxena, Renu; Chapman, Edwin R; Dent, Erik W; Nürnberg, Peter; Audhya, Anjon



Isolation and Characterization of Two Kinds of Stem Cells from the Same Human Skin Back Sample with Therapeutic Potential in Spinal Cord Injury  

PubMed Central

Backgrounds and Objective Spinal cord injury remains to be a challenge to clinicians and it is attractive to employ autologous adult stem cell transplantation in its treatment, however, how to harvest cells with therapeutic potential easily and how to get enough number of cells for transplantation are challenging issues. In the present study, we aimed to isolate skin-derived precursors (SKPs) and dermal multipotent stem cells (dMSCs) simultaneously from single human skin samples from patients with paraplegia. Methods Dissociated cells were initially generated from the dermal layer of skin samples from patients with paraplegia and cultured in SKPs proliferation medium. Four hours later, many cells adhered to the base of the flask. The suspended cells were then transferred to another flask for further culture as SKPs, while the adherent cells were cultured in dMSCs proliferation medium. Twenty-four hours later, the adherent cells were harvested and single-cell colonies were generated using serial dilution method. [3H]thymidine incorporation assay, microchemotaxis Transwell chambers assay, RT-PCR and fluorescent immunocytochemistry were employed to examine the characterizations of the isolated cells. Results SKPs and dMSCs were isolated simultaneously from a single skin sample. SKPs and dMSCs differed in several respects, including in terms of intermediate protein expression, proliferation capacities, and differentiation tendencies towards mesodermal and neural progenies. However, both SKPs and dMSCs showed high rates of differentiation into neurons and Schwann cells under appropriate inducing conditions. dMSCs isolated by this method showed no overt differences from dMSCs isolated by routine methods. Conclusions Two kinds of stem cells, namely SKPs and dMSCs, can be isolated simultaneously from individual human skin sample from paraplegia patients. Both of them show ability to differentiate into neural cells under proper inducing conditions, indicating their potential for the treatment of spinal cord injury patients by autologous cell transplantation.

Zong, Zhaowen; Li, Nan; Ran, Xinze; Su, Yongping; Shen, Yue; Shi, Chun-meng; Cheng, Tian-min



Relationship of physical therapy inpatient rehabilitation interventions and patient characteristics to outcomes following spinal cord injury: The SCIRehab project  

PubMed Central

Background/objective Examine associations of type and quantity of physical therapy (PT) interventions delivered during inpatient spinal cord injury (SCI) rehabilitation and patient characteristics with outcomes at the time of discharge and at 1 year post-injury. Methods Physical therapists delivering routine care documented details of PT interventions provided. Regression modeling was used to predict outcomes at discharge and 1 year post-injury for a 75% subset; models were validated with the remaining 25%. Injury subgroups also were examined: motor complete low tetraplegia, motor complete paraplegia, and American Spinal Injury Association (ASIA) Impairment Scale (AIS) D motor incomplete tetra-/paraplegia. Results PT treatment variables explain more variation in three functionally homogeneous subgroups than in the total sample. Among patients with motor complete low tetraplegia, higher scores for the transfer component of the discharge motor Functional Independence Measure () are strongly associated with more time spent working on manual wheelchair skills. Being male is the most predictive variable for the motor FIM score at discharge for patients with motor complete paraplegia. Admission ASIA lower extremity motor score (LEMS) and change in LEMS were the factors most predictive for having the primary locomotion mode of “walk” or “both (walk and wheelchair)” on the discharge motor FIM for patients with AIS D injuries. Conclusion Injury classification influences type and quantity of PT interventions during inpatient SCI rehabilitation and is a strong predictor of outcomes at discharge and 1 year post-injury. The impact of PT treatment increases when patient groupings become more homogeneous and outcomes become specific to the groupings. Note This is the second of nine articles in the SCIRehab series.

Teeter, Laura; Gassaway, Julie; Taylor, Sally; LaBarbera, Jacqueline; McDowell, Shari; Backus, Deborah; Zanca, Jeanne M.; Natale, Audrey; Cabrera, Jordan; Smout, Randall J.; Kreider, Scott E. D.; Whiteneck, Gale



Shoulder Muscular Demand During Lever-Activated Vs Pushrim Wheelchair Propulsion in Persons With Spinal Cord Injury  

PubMed Central

Background/Objective: The high demand on the upper limbs during manual wheelchair (WC) use contributes to a high prevalence of shoulder pathology in people with spinal cord injury (SCI). Lever-activated (LEVER) WCs have been presented as a less demanding alternative mode of manual WC propulsion. The objective of this study was to evaluate the shoulder muscle electromyographic activity and propulsion characteristics in manual WC users with SCI propelling a standard pushrim (ST) and LEVER WC design. Methods: Twenty men with complete injuries (ASIA A or B) and tetraplegia (C6, n = 5; C7, n = 7) or paraplegia (n = 8) secondary to SCI propelled ST and LEVER WCs at 3 propulsion conditions on a stationary ergometer: self-selected free, self-selected fast, and simulated graded resistance. Average velocity, cycle distance, and cadence; median and peak electromyographic intensity; and duration of electromyography of anterior deltoid, pectoralis major, supraspinatus, and infraspinatus muscles were compared between LEVER and ST WC propulsion. Results: Significant decreases in pectoralis major and supraspinatus activity were recorded during LEVER compared with ST WC propulsion. However, anterior deltoid and infraspinatus intensities tended to increase during LEVER WC propulsion. Participants with tetraplegia had similar or greater anterior deltoid, pectoralis major, and infraspinatus activity for both ST and LEVER WC propulsion compared with the men with paraplegia. Conclusions: Use of the LEVER WC reduced and shifted the shoulder muscular demands in individuals with paraplegia and tetraplegia. Further studies are needed to determine the impact of LEVER WC propulsion on long-term shoulder function.

Requejo, Philip Santos; Lee, Sharon E; Mulroy, Sara J; Haubert, Lisa Lighthall; Bontrager, Ernest L; Gronley, JoAnne K; Perry, Jacquelin



Prevention of intrathecal baclofen withdrawal syndrome: successful use of a temporary intrathecal catheter.  


Abrupt cessation of intrathecal baclofen (ITB) administration can cause a life-threatening withdrawal syndrome that requires prompt diagnosis and urgent treatment. The current therapy for this condition is administration of propofol, benzodiazepines, paralytics and supportive care. This study reports a 53-year-old patient with paraplegia with an ITB infusion who presented with an infected pump site. The pump and the catheter were surgically removed and replaced with a temporary externalized intrathecal catheter. The ITB infusion was tapered and simultaneously substituted with progressively higher doses of oral antispasmotics. With this strategy, we were able to avoid life-threatening complications. PMID:19920430

Bellinger, Anke; Siriwetchadarak, Rapipen; Rosenquist, Richard; Greenlee, Jeremy D W


Neurologic complications associated with influenza vaccination: two adult cases.  


We describe two adult cases of neurologic complications occurring after influenza vaccination. The first case was a 62-year-old man who experienced convulsions 5 days after vaccination, and the second case was a 70-year-old man who exhibited paraplegia 7 days after vaccination. Diagnoses of acute disseminated encephalomyelitis and transverse myelitis with acute motor axonal neuropathy were made, respectively, and steroid pulse therapy and intravenous gamma globulin therapy alleviated the patients' symptoms. Although the efficacy and cost benefit of influenza vaccination have been widely accepted, such neurologic complications might occur in the elderly or even in adults. PMID:12636241

Nakamura, Naoko; Nokura, Kazuya; Zettsu, Takaaki; Koga, Hiroshi; Tachi, Masayuki; Terada, Masaki; Katoh, Hideshi; Itoh, Yuri; Osawa, Hiroyuki; Ozeki, Toshihiko; Yamamoto, Hiroko



Cauda equina compression in an achondroplastic dwarf. Is complex anterior and posterior surgical intervention necessary?  

PubMed Central

We report the case of an achondroplastic dwarf who presented with partial paraplegia due to cauda equina compression. The patient had marked thoracolumbar kyphosis and spinal stenosis at L2–L3. Although only posterior decompression is recommended in the literature for the treatment of achondroplastic patients presenting with neurological problems, a staged anterior and posterior decompression and stabilization was considered necessary for the treatment of this particular patient due to the presence of kyphosis. Satisfactory clinical results were achieved and sustained for six years following this complex operation.

Sapkas, George; Kateros, Konstantinos; Papadakis, Stamatios A; Papadakis, Michael; Machairas, George



A dominantly inherited progressive disease in a black family characterised by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria.  


A report is given of a black family with a dominantly inherited, neuro-retinal degeneration associated with abnormally large mitochondria, in which the cristae are disoriented. The disease is characterised by progressive external ophthalmoplegia, clear-cut macular degeneration, cerebellar dysarthria, spastic paraplegia and finally facial and bulbar weakness. A similar illness has been described in black families and individuals and we suggest that the disease may represent a specific syndrome, possibly confined to blacks, that lies within the spectrum of the so-called mitochondrionopathies. PMID:3210038

Cooles, P; Michaud, R; Best, P V



Spinal cord necrosis after intrathecal injection of methylene blue.  

PubMed Central

A 59 year old man had 6 ml of unbuffered methylene blue injected into the lumbar theca in an attempt to localise the source of cerebrospinal fluid rhinorrhoea. After injection of the dye he became shocked, and within the next few days he developed a mild paraparesis which subsequently progressed to a total paraplegia. The distribution of the spinal cord damage found at necropsy, eight and a half years after injection of the dye, is described and its relationship to the clinical picture discussed.

Sharr, M M; Weller, R O; Brice, J G



[Intradural extramedullary tuberculous abscess. Apropos of a case].  


Intradural extramedullary tuberculous spinal abscess is rare and has a poor prognosis if not diagnosed early and treated adequately. We report the case of 13 year-old boy who presented with an 8-month history of paraplegia. MR imaging demonstrated an intradural extramedullary spinal abscess in the mid-thoracic region. At operation, an encapsulated abscess was removed completely. The tuberculous nature was confirmed with microbiological testing. Postoperative antituberculous chemotherapy resulted in complete recovery. MR imaging can prove very helpful in early diagnosis of this condition, which is particular relevant in countries where tuberculosis is endemic. PMID:9161538

Achouri, M; Hilmani, S; Sami, A; Ouboukhlik, A; el Kamar, A; el Azhari, A; Boucetta, M



The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule  

SciTech Connect

Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). We review 34 L1 mutations in patients with these phenotypes. 22 refs., 3 figs., 4 tabs.

Fransen, E.; Vits, L.; Van Camp, G.; Willems, P.J. [Univ. of Antwerp (Belgium)



Aggressive hemangioma of the thoracic spine  

PubMed Central

Vertebral hemangiomas are common lesions and usually considered benign. A rare subset of them, however, are characterized by extra-osseous extension, bone expansion, disturbance of blood flow, and occasionally compression fractures and thereby referred to as aggressive hemangiomas. We present a case of a 67-year-old woman with progressive paraplegia and an infiltrative mass of T4 vertebra causing mass effect on the spinal cord. Multiple conventional imaging modalities were utilized to suggest the diagnosis of aggressive hemangioma. Final pathologic diagnosis after decompressive surgery confirmed the diagnosis of an osseous hemangioma.

Schrock, Wesley B.; Wetzel, Raun J.; Tanner, Stephanie C.; Khan, Majid A.



[The interesting case report: spinal infarct with the picture of lumbar ischialgia].  


The case we present here is that of a fifty-year-old male patient who first came to the Orthopedic Hospital for out-patient treatment suffering from symptoms of lumboischialgia. Shortly afterwards, he developed symptoms characteristic of paraplegia. It was only 21 days after the initial symptoms had manifest themselves that the tentative previous diagnosis, suspected "spinal infarct", could be confirmed by magnetic resonance tomography (MRT). Possibilities offered by differential diagnosis are discussed; the discussion is followed by an enumeration of this highly heterogeneous group of illnesses. PMID:9027117

Zedler, A; Wagner, D


Medullary gnathostomiasis in a white patient: use of immunodiagnosis and magnetic resonance imaging.  


A 48-year-old French diplomat presented with a sensory-motor paraparesis of rapid onset, leading to paraplegia. Successive magnetic resonance image scans showed lesions of the thoracic spinal cord that were at different levels from one examination to the next. Specific anti-gnathostome antibodies were detected by means of enzyme-linked immunosorbent assay and Western blot test in both plasma and cerebrospinal fluid. Albendazole treatment prevented disease progression, but only partial regression of the neurologic symptoms was obtained. PMID:11340549

Chandenier, J; Husson, J; Canaple, S; Gondry-Jouet, C; Dekumyoy, P; Danis, M; Riveau, G; Hennequin, C; Rosa, A; Raccurt, C P



Spinal-cord compression in myeloma.  

PubMed Central

Clinical records of 47 patients in whom spinal-cord compression was the presenting feature of plasma-cell myeloma were analysed retrospectively. Patients were referred during 1954-78. Median survival was 30 months and prognosis was best for those in whom the site of cord compression was the thoracic region. Early laminectomy and decompression followed by adequate radiotherapy resulted in complete or good partial response in over a third of patients who presented with complete paraplegia. Improvements in supportive care and more effective chemotherapy allow spinal-cord compression in myeloma to be treated promptly and vigorously, thus improving duration and quality of survival in a substantial proportion of patients.

Benson, W J; Scarffe, J H; Todd, I D; Palmer, M; Crowther, D



Longitudinal myelitis in systemic lupus erythematosus: a paediatric case.  


Acute transverse myelitis (ATM) is a very rare manifestation of the central nervous system in systemic lupus erythematosus (SLE), especially in case of involvement of continuous segments (longitudinal myelitis). We describe a 12-year-old female with lupus correlated with transverse myelitis with a longitudinal involvement of the spinal cord (D2 to D10) at the onset of the disease. Despite the administration of an early aggressive therapy, the outcome proved to be unfavourable. After 2 years of follow-up, the child still complains of paraplegia, sphincter incontinency and ipo-paresthesias of both legs. PMID:21792641

Campana, Andrea; Buonuomo, Paola Sabrina; Insalaco, Antonella; Bracaglia, Claudia; Di Capua, Matteo; Cortis, Elisabetta; Ugazio, Alberto G



Genotype-phenotype correlation in L1 associated diseases.  

PubMed Central

The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydrocephalus (HSAS), MASA syndrome, complicated spastic paraplegia type 1 (SP-1), and X linked agenesis of the corpus callosum. As the clinical picture of these four L1 associated diseases shows considerable overlap and is characterised by Corpus callosum hypoplasia, mental Retardation, Adducted thumbs, Spastic paraplegia, and Hydrocephalus, these conditions have recently been lumped together into the CRASH syndrome. We investigate here whether a genotype-phenotype correlation exists in CRASH syndrome since its clinical spectrum is highly variable and numerous L1 mutations have been described. We found that (1) mutations in the extracellular part of L1 leading to truncation or absence of L1 cause a severe phenotype, (2) mutations in the cytoplasmic domain of L1 give rise to a milder phenotype than extracellular mutations, and (3) extracellular missense mutations affecting amino acids situated on the surface of a domain cause a milder phenotype than those affecting amino acids buried in the core of the domain.

Fransen, E; Van Camp, G; D'Hooge, R; Vits, L; Willems, P J



Validity of Computer Adaptive Tests of Daily Routines for Youth with Spinal Cord Injury  

PubMed Central

Objective: To evaluate the accuracy of computer adaptive tests (CATs) of daily routines for child- and parent-reported outcomes following pediatric spinal cord injury (SCI) and to evaluate the validity of the scales. Methods: One hundred ninety-six daily routine items were administered to 381 youths and 322 parents. Pearson correlations, intraclass correlation coefficients (ICC), and 95% confidence intervals (CI) were calculated to evaluate the accuracy of simulated 5-item, 10-item, and 15-item CATs against the full-item banks and to evaluate concurrent validity. Independent samples t tests and analysis of variance were used to evaluate the ability of the daily routine scales to discriminate between children with tetraplegia and paraplegia and among 5 motor groups. Results: ICC and 95% CI demonstrated that simulated 5-, 10-, and 15-item CATs accurately represented the full-item banks for both child- and parent-report scales. The daily routine scales demonstrated discriminative validity, except between 2 motor groups of children with paraplegia. Concurrent validity of the daily routine scales was demonstrated through significant relationships with the FIM scores. Conclusion: Child- and parent-reported outcomes of daily routines can be obtained using CATs with the same relative precision of a full-item bank. Five-item, 10-item, and 15-item CATs have discriminative and concurrent validity.

Haley, Stephen M.



Spinal subarachnoid hemorrhage accompanied with intraventricular hemorrhage  

PubMed Central

Spinal hematoma is a rare and usually severe neurological disorder that, without adequate treatment, often leads to death or permanent neurological deficit. Epidural as well as subdural and subarachnoid hematomas have been investigated in some studies. A 66-year-old man referred to our hospital because of acute onset paraplegia and incontinency started 3 h before admission. With impression of spinal hemorrhage, emergent cervicothoracic spinal MRI performed. On magnetic resonance imagination (MRI) mixed hyper/iso intense lesion in anterior subarachnoid space from C7 to T5 was seen. On brain A computerised tomography (CT) scan, subarachnoid hemorrhage and intraventricular hemorrhage in posterior parts of brain was seen. Unfortunately, the patient died 10 days later. About our patient, severe back pain accompanying by immediate paraplegia, sphincter disturbances, sensory level, and prominent meningeal signs guided us clinically to spinal subarachnoid hemorrhage. Further brain CT scan revealed diffusion of blood to brain subarachnoid space and ventricles. An outstanding finding on brain CT was the presence of blood only in posterior horn of lateral ventricles and dorsal fissures of brain supporting our theory that blood has diffused from spinal subarachnoid space to dorsal subarachnoid space of brain because of supine position of patient. In this patient anticoagulation may be the only sinister factor for developing complications.

Fatehi, Farzad; Basiri, Keivan; Ghorbani, Askar



Fractures of the thoraco-lumbar spine.  


A personal prospective study of 98 consecutive patients presenting with neurological impairment and fractures or dislocations between the 9th thoracic and 2nd lumbar vertebrae bodies. Fifty-three patients underwent Harrington instrumentation, and 45 patients were treated recumbently. Neurological improvement was much better following Harrington rods in the complete paraplegia group but there was no difference in neurological recovery between the two groups in those with incomplete paraplegia. Forty-two patients who had been stabilised with Harrington rods underwent post-operative myelography or tomography to assess the adequacy of spinal decompression. The best results were in patients with adequate neural canal decompression. In 21 cases decompression had not been adequate, usually due to a stereotyped pattern in which the postero-superior aspect of the fractured body remained in the neural canal. All 21 underwent anterior decompression at an average of five months post injury. All the incomplete anterior decompression at an average of five months post injury. All the incomplete paraplegics (nine patients) regained the ability to walk, three of the 12 complete paraplegics improved and regained the ability to walk with bilateral ankle-foot orthoses. Neurological improvement was dependent upon the adequacy of spinal cord decompression and not upon Harrington rods. per se. Harrington rods alone were not adequate to decompress the spinal canal in 50 per cent of cases. The best results after anterior decompression occurred where neural compression was caused by a minimally displaced wedge fracture distal to T12. PMID:4047711

Lifeso, R M; Arabie, K M; Kadhi, S K



Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28.  


This study reports the characterization of a novel human gene, chromosome 3 open reading frame 6 (C3orf6), mapped to chromosome 3q28, within the critical region of hereditary spastic paraplegia SPG14 locus. Based on computational "spliced" EST alignment and RT-PCR, two C3orf6 transcript variants were identified. The longer C3orf6 transcript contains a 1449-nt ORF, encoding a protein of 482 aa, while the shorter variant contains a 921-nt ORF, encoding for a protein of 306 aa. C3orf6 gene is organised on 12 exons and the shorter transcript comes from an alternative splicing event skipping exon 6. The two mRNA are differentially expressed in brain and in several other human tissues with a predominant level for the shorter transcript. By database analysis, EST assembling and RT-PCR, we identified the transcripts of mouse and rat C3orf6 orthologous genes. The involvement of C3orf6 in the spastic paraplegia was investigated by sequencing all coding exons and flanking sequences in the SPG14 family, excluding the presence of causative mutations. PMID:14527723

Vazza, G; Picelli, S; Bozzato, A; Mostacciuolo, M L



Comparing deficits following excitotoxic and contusion injuries in the thoracic and lumbar spinal cord of the adult rat.  


The majority of human spinal cord injuries involve gray matter loss from the cervical or lumbar enlargements. However, the deficits that arise from gray matter damage are largely masked by the severe deficits due to associated white matter damage. We have developed a model to examine gray matter-specific deficits and therapeutic strategies that uses intraspinal injections of the excitotoxin kainic acid into the T9 and L2 regions of the spinal cord. The resulting deficits have been compared to those from standard contusion injuries at the same levels. Injuries were assessed histologically and functional deficits were determined using the Basso, Beattie, and Bresnahan (BBB) 21-point open field locomotor scale and transcranial magnetic motor evoked potentials (tcMMEPs). Kainic acid injections into T9 resulted in substantial gray matter damage; however, BBB scores and tcMMEP response latencies were not different from those of controls. In contrast, kainic acid injections into L2 resulted in paraplegia with BBB scores similar to those following contusion injuries at either T9 or L2, without affecting tcMMEP response latencies. These observations demonstrate that gray matter loss can result in significant functional deficits, including paraplegia, in the absence of a disruption of major descending pathways. PMID:10192790

Magnuson, D S; Trinder, T C; Zhang, Y P; Burke, D; Morassutti, D J; Shields, C B



Cardiometabolic risk factors in Iranians with spinal cord injury: Analysis by injury-related variables.  


Persons with spinal cord injury (SCI) have a high prevalence of abnormalities in carbohydrate and lipid metabolism. These abnormalities cause adverse coronary heart disease (CHD) in patients with SCI. In this study, we performed a detailed analysis of the level-specific cardiometabolic risk factors in individuals with SCI and analyzed the association of injury level on these risk factors. This was a cross-sectional study of 162 patients with SCI, assessing the prevalence of diabetes mellitus, dyslipidemia, hypertension, obesity, and smoking. Fasting blood sugar (>100) was diagnosed in 27 patients (16.7%). Of the total patients, 36 (22.2%) had a total cholesterol (TC) level of >200. A triglyceride level of >150 was present in 56 patients (34.6%). Hypertension was present in 2.5% of the entire patient group. Body mass index (BMI), TC, and low-density lipoprotein cholesterol (LDL-C) were significantly higher in the paraplegia group than the tetraplegia group (24.44 +/- 4.23 vs 22.65 +/- 4.27, p = 0.01; 185.71 +/- 40.69 vs 163.28 +/- 37.92, p < 0.001; and 102.51 +/- 28.20 vs 89.15 +/- 22.35, p = 0.01, respectively). Patients with paraplegia may have increased hypertension, higher BMI, and increasing levels of serum LDL-C and TC than those with tetraplegia. Conventional risk factors for CHD should be identified and treated in individuals with SCI. PMID:24013911

Sabour, Hadis; Javidan, Abbas Norouzi; Ranjbarnovin, Neda; Vafa, Mohammad Reza; Khazaeipour, Zahra; Ghaderi, Firoozeh; Mehrabani, Fatemeh Khanzadeh; Shidfar, Farzad



A Meaning of Well-Being: From the Experience of Paraplegic  

PubMed Central

Study Design Retrospective study. Purpose The goal of care for paraplegic people is the enhancement of their "well-being". However, despite the frequent use of the term "well-being", its definition remains unclear and there is little information in the literature concerning the paraplegic's own perspective. The study was conducted to explore the Pakistani paraplegia's perspective of well-being. Overview of Literature Studies have shown that paraplegia changes not only physical and psychological, but also socioeconomic, states, which have significant impact on an individual's "subjective well-being", however there is no clear definition of well-being and the methods of measuring the phenomena. Methods Fifty paraplegic adults from different rehabilitation centers of Pakistan participated in an in-depth interview using natural inquiry method. The interviews were audio-taped, transcribed, and analyzed. Results Three commonly used meanings of well-being and eight components were identified and included in the definition. The results indicated that the meaning of well-being is an individual's perception, which includes both objective and subjective values and experiences. Conclusions The study provides information that was used to develop specific rehabilitation program for the paraplegic Pakistani adults to enhance their well-being.

Aslam, Atifa



Hyperpyrexia in spinal injury patients.  


We studied 13 spinal injury patients who had hyperpyrexia during an 18 month period (September 1984-March 1986) to discover if differences existed in the core temperature of patients with tetraplegia and those with paraplegia, and the contribution of these differences to the final outcome. Children were excluded from this study as well as patients with any sign of infection on first admission, patients with multiple injuries, and those referred from peripheral hospitals more than one week after injury. Patients with tetraplegia (C3-C7) had persistently high and uncontrollable core temperatures (average 39.5 degrees C) while those with paraplegia (T4-L5) showed lower core temperatures which were still high (average 38.1 degrees C). The difference in the average high core temperature (1.4 degrees C) is statistically significant. The lowest average core temperatures were about the same in tetraplegics and paraplegics (just over 35 degrees C). Four patients died: 3 tetraplegics and one paraplegic. Antipyretic analgesics were ineffective in reducing the high core temperatures. PMID:1598174

Essiet, A; Onuba, O



The Troyer syndrome (SPG20) protein spartin interacts with Eps15  

SciTech Connect

The hereditary spastic paraplegias comprise a group of inherited neurological disorders in which the primary manifestation is spastic weakness of the lower extremities. Troyer syndrome is an autosomal recessive form of spastic paraplegia caused by a frameshift mutation in the spartin (SPG20) gene. Currently, neither the localization nor the functions of the spartin protein are known. In this study, we generated anti-spartin antibodies and found that spartin is both cytosolic and membrane-associated. Using a yeast two-hybrid approach, we screened an adult human brain library for binding partners of spartin. We identified Eps15, a protein known to be involved in endocytosis and the control of cell proliferation. This interaction was confirmed by fusion protein 'pull-down' experiments as well as a cellular redistribution assay. Our results suggest that spartin might be involved in endocytosis, vesicle trafficking, or mitogenic activity, and that impairment in one of these processes may underlie the long axonopathy in patients with Troyer syndrome.

Bakowska, Joanna C. [Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2C-913, 9000 Rockville Pike, Bethesda, MD 20892-3704 (United States); Jenkins, Russell [Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2C-913, 9000 Rockville Pike, Bethesda, MD 20892-3704 (United States); Pendleton, James [Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2C-913, 9000 Rockville Pike, Bethesda, MD 20892-3704 (United States); Blackstone, Craig [Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 35, Room 2C-913, 9000 Rockville Pike, Bethesda, MD 20892-3704 (United States)]. E-mail:



Impact of a film portrayal of a police officer with spinal cord injury on attitudes towards disability: a media effects experiment.  


Abstract Purpose: The portrayal of disabled people in the media can influence the public's perception of disability in both positive and negative ways. In this article, an experimental before and after design is used to determine the effects of a short film on the attitudes of non-disabled and disabled persons concerning employment and productivity of persons with disabilities. Method: Three questions were posed to 480 study participants prior to and following a short film featuring a police officer with paraplegia. Linear mixed models were used to assess the effects of time point and disability status on the responses. Results: The non-disabled participants' ratings of eligibility for employment of a paraplegic man and estimates of the employment rate of disabled people were significantly enhanced following the film. Nevertheless, the film had no significant effects on the ratings given by participants with disabilities in terms of eligibility, employment rate or productivity. Conclusions: This investigation highlights the potentially important influence of media portrayal and coverage of people with disabilities on attitudes of the public concerning disability. Implications for Rehabilitation Restrictions in participation may result from an interaction of persons with impairments with an environment that is dominated by negative attitudes towards disability The portrayal of disabled people in the media can influence the public's attitudes towards disability in both positive and negative ways In this experimental study, attitudes of the general public were significantly improved following viewing a short film featuring a positive media portrayal of a police officer with paraplegia. PMID:23627536

Reinhardt, Jan D; Pennycott, Andrew; Fellinghauer, Bernd A G



Hybrid Repair of Type II Dissecting Thoracoabdominal Aneurysm Using Amplatzer Vascular Plugs for Entry Tear Closure.  


Endovascular repair of chronic aortic dissections (CAD) intend to promote false lumen thrombosis (FLT). This article describes a technique using Amplatzer vascular plugs (AVPs) for entry tear closure of CAD. A 70-year-old man presented with a type II dissecting thoracoabdominal aneurysm. Computed tomography scan showed a very tight true lumen, partial FLT, and 2 entry tears at the level of the left subclavian artery and the visceral aorta, respectively. During a first procedure, aortic debranching was performed using the ascending aorta as bypass inflow. In a second intervention entry tears were closed using AVPs protected by short stent grafts. Technical success was achieved. No paraplegia occurred. Eighteen months later, FLT was complete and aortic diameter decreased. Entry tear closure using AVPs is feasible and allows FLT. Further reports are needed to determine if stent-graft protection of AVPs is mandatory, which may simplify technical aspects of the procedure. PMID:23993113

Coscas, Raphaël; Capdevila, Clément; Colacchio, Giovanni; Goëau-Brissonnière, Olivier; Coggia, Marc



Cowherd's injury: Traumatic retrospondyloptosis of L1 over L2 in a 7-year-old child  

PubMed Central

Traumatic retrolisthesis of the first lumbar vertebra is a rare injury and only one case has been documented in the literature. We report a case of traumatic retrolisthesis of the first lumbar vertebra in a 7-year old child. He was injured after being dragged by a cow and presented with Frenkel grade A paraplegia. His plain radiographs revealed complete retrolisthesis of the first lumbar vertebra over the second. The patient was treated surgically with open reduction and sublaminar wire loop rectangle fixation. The patient showed Frankle grade D (Frankle grade) neurological recovery in the postoperative period over a period of 15 months. This case is reported in view of rarity and mechanism of injury is described.

Yadav, Vedpal; Mishra, Diwakar; Maini, Lalit; Gautam, VK



Recovery from and Clearance of Rabies Virus in a Domestic Ferret  

PubMed Central

Here we document the case of a domestic ferret (Mustela putorius) that survived experimental inoculation with rabies virus of skunk origin. The ferret showed initial clinical signs of rabies (hindlimb paralysis) on day 81 after inoculation. The animal survived with paraplegia but otherwise was in an adequate nutritional state until the end of the observation period (PI day 181). At necropsy, no gross lesions were observed. Microscopic lesions were found in sections of cerebrum and spinal cord. In both tissues, the lesions were similar but were more severe with loss of neuronal parenchyma in the spinal cord. The lesions consisted of locally extensive areas with proliferation of astrocytes and moderate numbers of glial cells. Severely affected areas also contained clearly defined vacuoles in the neuropil. Multifocal areas of involvement showed mononuclear cuffing of blood vessels. In a few areas, the cuffing extended to the meninges. Rabies virus antigen was not detected by immunohistochemistry of tissue sections.

Hamir, Amir N; Niezgoda, Michael; Rupprecht, Charles E



Spinal Cord Infarction Caused by Non-dissected and Unruptured Thoracoabdominal Aortic Aneurysm with Intraluminal Thrombus  

PubMed Central

Spinal cord infarction, especially anterior spinal artery syndrome, is a relatively rare disease. We report a case of spinal cord infarction caused by thoracoabdominal aortic aneurysm with intraluminal thrombus. A 52-year-old man presented with sudden onset paraplegia. At first, he was diagnosed with cervical myelopathy due to a C6-7 herniated intervertebral disc, and had an operation for C6-7 discetomy and anterior interbody fusion. Approximately 1 month after the operation, he was transferred to the department of rehabilitation in our hospital. Thoracoabdominal aortic aneurysm with intraluminal thrombus was found incidentally on an enhanced computed tomography scan, and high signal intensities were detected at the anterior horns of gray matter from the T8 to cauda equina level on T2-weighted magnetic resonance imaging. There was no evidence of aortic rupture, dissection, or complete occlusion of the aorta. We diagnosed his case as a spinal cord infarction caused by thoracoabdominal aortic aneurysm with intraluminal thrombus.

Ki, Young Jin; Jeon, Byoung Hyun



[Robot-aided training in rehabilitation].  


Recently, new training techniques that involve the use of robots have been used in the rehabilitation of patients with hemiplegia and paraplegia. Robots used for training the arm include the MIT-MANUS, Arm Trainer, mirror-image motion enabler (MIME) robot, and the assisted rehabilitation and measurement (ARM) Guide. Robots that are used for lower-limb training are the Rehabot, Gait Trainer, Lokomat, LOPES Exoskeleton Robot, and Gait Assist Robot. Robot-aided therapy has enabled the functional training of the arm and the lower limbs in an effective, easy, and comfortable manner. Therefore, with this type of therapy, the patients can repeatedly undergo sufficient and accurate training for a prolonged period. However, evidence of the benefits of robot-aided training has not yet been established. PMID:20192033

Hachisuka, Kenji



Combined use of super-oxidised solution with negative pressure for the treatment of pressure ulcers: case report.  


A 61-year-old patient was affected by flaccid paraplegia for 20 years because of post-traumatic medullar injury caused by an accidental fall, with stage IV sacral pressure ulcer for 3 years. The patient later developed stage IV sacral pressure ulcer. After 6 months, a new granulation tissue formation appeared in the wound and a reduction of its diameter was observed (length 20 cm, width 15 cm, depth 5 cm). We therefore treated the wound with PRP (platelet rich plasma) intra-lesion and peri-lesional injections. The wounds were covered with three-dimensional polymerised hyaluronic acid medicated biologic dressing. After the surgery, a moderate reduction in diameter and the depth was observed. Super-oxidised solution (SOS-Dermacyn) was applied to control infection locally together with negative pressure to control the exudate and the local bacteremia, to avoid infectious complications without application of systematic antibiotic therapy. PMID:22621774

de Angelis, Barbara; Lucarini, Lucilla; Agovino, Annarita; Migner, Alessia; Orlandi, Fabrizio; Floris, Micol; Cervelli, Valerio; Curcio, Cristiano



Citrobocter kasori spinal epidural abscess: a rare occurrence.  


Pyogenic spinal epidural abscess Is an uncommon Infectious occurrence. Clinical prospects of pyogenic spinal epidural abscess are graver if not promptly diagnosed and treated appropriately. A case of spinal epidural abscess has been presented with sinus tract formation at L4-L5 level, of pyogenic aetiology that progressed to paraplegia over the course of the disease. MRI pointed towards an epidural abscess extending from T12 vertebral level to S1 vertebral level. Surgical decompression in the form of laminectomy and evacuation of pus was done and antibiotics were given according to culture and sensitivity. Histopathological analysis revealed the acute suppurative nature of the abscess. Citrobacter kasori was isolated on pus culture. Pyogenic epidural abscess with causative organism being Citrobacter kasori has least been documented. PMID:24000517

Kumar, Ashok; Jain, Pramod; Singh, Pritish; Divthane, Rupam; Badole, C M



Worklife After Traumatic Spinal Cord Injury  

PubMed Central

Objective: To develop predictive models to estimate worklife expectancy after spinal cord injury (SCI). Design: Inception cohort study. Setting: Model SCI Care Systems throughout the United States. Participants: 20,143 persons enrolled in the National Spinal Cord Injury Statistical Center database since 1973. Intervention: Not applicable. Main Outcome Measure: Postinjury employment rates and worklife expectancy. Results: Using logistic regression, we found a greater likelihood of being employed in any given year to be significantly associated with younger age, white race, higher education level, being married, having a nonviolent cause of injury, paraplegia, ASIA D injury, longer time postinjury, being employed at injury and during the previous postinjury year, higher general population employment rate, lower level of Social Security Disability Insurance benefits, and calendar years after the passage of the Americans with Disabilities Act. Conclusions: The likelihood of postinjury employment varies substantially among persons with SCI. Given favorable patient characteristics, worklife should be considerably higher than previous estimates.

Pflaum, Christopher; McCollister, George; Strauss, David J; Shavelle, Robert M; DeVivo, Michael J



[Abdominal aortic aneurysm and Behçet's disease: four cases].  


Behçet's disease is an uncommon systemic process generally developing during the third or fourth decade of life. Recurrent inflammatory lesions are characteristic. Cardiovascular involvement, which may be arterial or venous, is rare but with particularly severe prognosis. Four cases of abdominal aortic aneurysm are reported. One patient underwent emergency surgery for acute rupture. All patients were male, age range 29-45 years, mean age 36.5 years. Three patients were followed for Behçet's disease. Surgical revascularization was performed in all four patients, mainly with prosthetic grafts, one with patch aortoplasty. The postoperative period was complicated by paraplegia and thrombosis of the prosthetic graft in the patient who underwent emergency surgery. On the basis of these cases and cases reported in the literature, it can be concluded that morbidity and mortality are high because of the etiology underlying vascular involvement in Behçet's disease. PMID:14978431

Taberkant, M; Chtata, H; Lekehal, B; Alaoui, M; Sefiani, Y; Boughroum, A; Mahi, O; El Mesnaoui, A; Benjelloun, A; Ammar, F; Bensaid, Y



Posteriorly migrated thoracic disc herniation: a case report  

PubMed Central

Introduction Posterior epidural migration of thoracic disc herniation is extremely rare but may occur in the same manner as in the lumbar spine. Case presentation A 53-year-old Japanese man experienced sudden onset of incomplete paraplegia after lifting a heavy object. Magnetic resonance imaging revealed a posterior epidural mass compressing the spinal cord at the T9-T10 level. The patient underwent emergency surgery consisting of laminectomy at T9-T10 with right medial facetectomy, removal of the mass lesion, and posterior instrumented fusion. Histological examination of the mass lesion yielded findings consistent with sequestered disc material. His symptoms resolved, and he was able to resume walking without a cane 4 weeks after surgery. Conclusions Pre-operative diagnosis of posterior epidural migration of herniated thoracic disc based on magnetic resonance imaging alone may be overlooked, given the rarity of this pathology. However, this entity should be considered among the differential diagnoses for an enhancing posterior thoracic extradural mass.



Spinal Epidural Hematoma After Thrombolysis for Deep Vein Thrombosis with Subsequent Pulmonary Thromboembolism: A Case Report  

SciTech Connect

A 38-year-old male was initially admitted for left leg swelling. He was diagnosed as having deep vein thrombosis (DVT) in the left leg and a pulmonary thromboembolism by contrast-enhanced chest computed tomography (CT) with delayed lower extremity CT. The DVT was treated by thrombolysis and a venous stent. Four hours later, he complained of severe back pain and a sensation of separation of his body and lower extremities; he experienced paraplegia early in the morning of the following day. Magnetic resonance imaging showed a spinal epidural hematoma between T11 and L2, which decompressed following surgery. We, therefore, report a case of a spinal epidural hematoma after thrombolysis in a case of DVT with a pulmonary thromboembolism.

Han, Young-Min, E-mail:; Kwak, Ho-Sung; Jin, Gong-Young; Chung, Gyung-Ho [Chonbuk National University Medical School, Departments of Radiology (Korea, Republic of); Song, Kyung-Jin [Chonbuk National University Medical School, Departments of Orthopedic Surgery (Korea, Republic of)



New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.  

PubMed Central

The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function. Images Figure 1 Figure 2 p1311-a Figure 3

Jouet, M; Moncla, A; Paterson, J; McKeown, C; Fryer, A; Carpenter, N; Holmberg, E; Wadelius, C; Kenwrick, S



The Role of Stent-Grafts in the Management of Aortic Trauma  

SciTech Connect

Stent graft has resulted in major advances in the treatment of trauma patients with blunt traumatic aortic injury (TAI) and has become the preferred method of treatment at many trauma centers. In this review, we provide an overview of the place of stent grafts for the management of this disease. As a whole, TEVAR repair of TAIs offers a survival advantage and reduction in major morbidity, including paraplegia, compared with open surgery. However, endovascular procedures in trauma require a sophisticated multidisciplinary and experienced team approach. More research and development of TAI-specific endograft devices is needed and large, multicenter studies will help to clarify the role of TEVAR compared with open repair of TAI.

Rousseau, Herve, E-mail:; Elaassar, Omar [Rangueil Hospital, Department of Radiology (France); Marcheix, Bertrand; Cron, Christophe [Rangueil Hospital, Department of Cardio-Vascular Surgery (France); Chabbert, Valerie; Combelles, Sophie [Rangueil Hospital, Department of Radiology (France); Dambrin, Camille; Leobon, Bertrand [Rangueil Hospital, Department of Cardio-Vascular Surgery (France); Moreno, Ramiro; Otal, Philippe; Auriol, Julien [Rangueil Hospital, Department of Radiology (France)



Exome sequencing reveals SPG11 mutations causing juvenile ALS.  


We report here the description of a nonconsanguineous family with 2 affected individuals with a recessively inherited juvenile motor neuron disease. Exome sequencing of these 2 affected individuals led us to identify 2 compound heterozygous deletions leading to a frameshift and a premature stop codon in the SPG11 gene. One of these deletions, c.5199delA in exon 30, has not been previously reported. Interestingly, these deletions are associated with an intrafamilial phenotypic heterogeneity as one affected has atypical juvenile amyotrophic lateral sclerosis (ALS) and the other has classical hereditary spastic paraplegia with thin corpus callosum. Our findings confirm SPG11 as a genetic cause of juvenile amyotrophic lateral sclerosis and indicate that SPG11 mutations could be associated with 2 different clinical phenotypes within the same family. PMID:22154821

Daoud, Hussein; Zhou, Sirui; Noreau, Anne; Sabbagh, Mike; Belzil, Veronique; Dionne-Laporte, Alexandre; Tranchant, Christine; Dion, Patrick; Rouleau, Guy A



Acute neurological signs as the predominant clinical manifestation in four dogs with Angiostrongylus vasorum infections in Denmark.  


Four dogs with acute neurological signs caused by haemorrhages in the central nervous system were diagnosed with Angiostrongylus vasorum infection as the underlying aetiology. Two dogs presented with brain lesions, one dog with spinal cord lesions and one with lesions in both the brain and spinal cord. Only one dog presented with concurrent signs of classical pulmonary angiostrongylosis (respiratory distress, cough), and only two dogs displayed overt clinical signs of haemorrhages. Results of coagulation assays were inconsistent. Neurological signs reflected the site of pathology and included seizures, various cranial nerve deficits, vestibular signs, proprioceptive deficits, ataxia and paraplegia. One dog died and three were euthanised due to lack of improvement despite medical treatment. This emphasises canine angiostrongylosis as a potential cause of fatal lesions of the central nervous system and the importance of including A. vasorum as a differential diagnosis in young dogs with acute neurological signs in Denmark. PMID:21711538

Gredal, Hanne; Willesen, Jakob L; Jensen, Henrik E; Nielsen, Ole L; Kristensen, Annemarie T; Koch, Jørgen; Kirk, Rikke K; Pors, Susanne E; Skerritt, Geoff C; Berendt, Mette



Langerhans' cell histiocytosis involving posterior elements of the dorsal spine: An unusual cause of extradural spinal mass in an adult.  


Langerhans cell histiocytosis (LCH) is a clonal proliferation of Langerhans cells occurring as an isolated lesion or as part of a systemic proliferation. It is commoner in children younger than 10 years of age with sparing of the posterior elements in more than 95% of cases. We describe a case of LCH in an adult female presenting with paraplegia. MRI revealed a well-defined extradural contrast enhancing mass at D2-D4 vertebral level involving the posterior elements of spine. D2-5 laminectomy with excision of lesion was performed which lead to marked improvement of patients neurological status. Histopathology was suggestive of eosinophilic granuloma. We describe the case, discuss its uniqueness and review the literature on this rare tumor presentation. PMID:23125497

Tyagi, Devendra K; Balasubramaniam, Srikant; Savant, Hemant V



Nontraumatic Myelopathy Associated With Surfing  

PubMed Central

Background/Objective: Ischemic nontraumatic spinal cord injury associated with surfing is a novel diagnosis believed to be related to prolonged spine hyperextension while lying prone on the surfboard. Only 9 cases have been documented. This report features possible risk factors, etiology, diagnostic imaging, and outcomes of surfer's myelopathy. Design: Case report. Results: A 37-year-old man developed T11 American Spinal Injury Association (ASIA) A paraplegia shortly after surfing. The clinical history and magnetic resonance imaging findings were compatible with an ischemic insult to the distal thoracic spinal cord. Our patient did not have any of the proposed risk factors associated with this condition, and, contrary to most reports, he sustained a complete spinal cord lesion without neurological recovery by 8 weeks post injury. Conclusions: Surfer's myelopathy, because of its proposed mechanism of injury, is amenable to medical intervention. Increased awareness of this condition may lead to early recognition and treatment, which should contribute to improved neurological outcomes.

Aviles-Hernandez, Israel; Garcia-Zozaya, Inigo; DeVillasante, Jorge M



Total knee arthroplasty in a spinal cord-injured patient: a case report.  


Patients with spinal cord injuries are prone to knee hydrarthrosis (also known as "water on the knee"), which can cause pain, functional impairment and the restriction of social activities. Total knee arthroplasty is a potentially appropriate treatment. Here, we report on a patient presenting partial T12 AIS grade C paraplegia who was able to walk with two forearm crutches, an ankle-foot orthosis on the right leg and a knee-ankle-foot orthosis on the left leg. Thirteen years after the spinal cord injury, the patient presented with septic arthritis of the right knee, complicated by recurrent hydrarthrosis during standing and walking. Arthroscopy revealed advanced osteoarthritis. Total knee arthroplasty was performed, with very good functional and social outcomes two and half years after surgery. PMID:19720574

Koubaa, S; Ksibi, I; Lebib, S; Tlili, L; Ben Salah, F Z; Dziri, C; Zehi, K; Zouari, M



Treatment of delayed neurological deficits after surgical repair of thoracic aortic aneurysm.  


Delayed neurologic deficits, paraplegia and paraparesis, are devastating complications after repair of a descending thoracic and thoracoabdominal aortic aneurysm (TAAA). A treatment protocol has not been established, although strategies such as cerebrospinal fluid (CSF) drainage, maintaining blood pressure and medication have been described. Cerebrospinal drain status /oxygen delivery/patient status (COPS) therapy for delayed neurological deficit can improve spinal cord ischemia through reducing intraspinal pressure, improving oxygen delivery and maintaining high blood pressure. We describe one patient (Case 1), in whom descending thoracic and abdominal aortic aneurysms were treated by endovascular aortic repair, and another (Case 2) with Crawford type II TAAA, who developed delayed neurological deficits that were treated with immediate COPS therapy (Modified Tarlov scale; Case 1, improved from 2 to 4; Case 2, from 0 to 4). These findings indicate the benefit of COPS for treating delayed neurological deficits after descending thoracic and TAAA. PMID:22791006

Yanase, Yohsuke; Kawaharada, Nobuyoshi; Maeda, Toshiyuki; Koyanagi, Tetsuya; Ito, Toshiro; Kurimoto, Yoshihiko; Higami, Tetsuya



Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.  


This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery images. Central motor conduction time was prolonged both in the upper and the lower extremities, while central sensory conduction time was normal. The reduced lymphocyte galactocerebrosidase (GALC) activity and two novel mutations in the GALC gene, p.G496S and p.G569S, proved the diagnosis of Krabbe disease. Our findings show that adult-onset Krabbe disease is characterized by isolated pyramidal tract impairment in the central nervous system, both neurophysiologically and radiologically. PMID:22959700

Tokushige, Shin-ichi; Sonoo, Tomohiro; Maekawa, Risa; Shirota, Yuichiro; Hanajima, Ritsuko; Terao, Yasuo; Matsumoto, Hideyuki; Hossain, Mohammad Arif; Sakai, Norio; Shiio, Yasushi



The simultaneous application of an interspinous compressive wire and Harrington distraction rods in the treatment of fracture-dislocation of the thoracic and lumbar spine.  


During open reduction of thoracolumbar fracture-dislocation, the normal constraints to distraction and lengthening may be ruptured and allow instrumentation to exert deleterious traction of the spinal cord. An interspinous wire across the unstable segment together with a Harrington rod may be used to prevent potential overdistribution of the spinal cord. Thirty-six patients with fracture-dislocation of the thoracolumbar spine were treated by open reduction with Harrington rods and interspinous wiring. Of 15 patients with a partial cord lesion, four made complete recovery, and nine of the remaining 11 became ambulators. Six patients with a complete paraplegia did not improve; 15 patients remained neurologically intact following the procedure. The compressive wire and Harrington rods act in concert and enable correction of kyphosis and restoration of vertebral and discal height while protecting the cord against traction. The technique is safe and does not add to operative time. PMID:3698379

Floman, Y; Fast, A; Pollack, D; Yosipovitch, Z; Robin, G C



Spinal arthrodesis for spinal deformity using posterior instrumentation and sublaminar wiring. A preliminary report of 100 consecutive cases.  


One hundred consecutive patients with spinal deformity due to various diagnoses were treated by posterior spinal arthrodesis with instrumentation and multiple sublaminar wires. Both the Harrington and Luque rodding systems were used. A total of 1128 wire loops were passed. No patient developed paraparesis or paraplegia, but three had transient sensory disturbance. There were no cases of broken rods or wires. Forty-five of the patients had no postoperative support. This worked well for neuromuscular scolioses, but for idiopathic scoliosis there was a disturbing loss of correction in many cases. Fusion to the sacrum was best accomplished with the "Galveston" technique, other methods having a high rate of pseudarthrosis. The main benefits appeared to be the ability to stabilize neuromuscular patients without the use of external immbolization, and the correction of thoracic lordosis. PMID:4093225

Winter, R B; Anderson, M B



Prevention of urinary tract infections in persons with spinal cord injury in home health care.  


More than 250,000 persons in the United States live with spinal cord injury (SCI), and 10,000 to 12,000 new injuries occur each year. Of these spinal cord injured persons, 53% have tetraplegia, 46% have paraplegia, and less than 1% experience complete neurologic recovery. About 48% have complete injuries (i.e., full quadriplegia) and 52% have incomplete injuries (; ). Almost all persons with neurologic impairment related to SCI have voiding dysfunction. Urinary tract infections (UTIs) have long been problematic for those living with SCI. Once the leading cause of death, urinary complications remain the leading cause of morbidity and the most common infection in persons with SCI (). This article provides a brief overview of spinal cord injuries and the effect of SCI on the urinary system. Factors that increase the risk for UTI will also be described. PMID:20520263

Eves, Faith J; Rivera, Natacha



Oral considerations in the management of sickle cell disease: a case report.  


The phenomenon of erythrocyte sickling observed in sickle cell anaemia is responsible for ischaemia and tissue infarction compromising several organs and systems including the mouth and face. This brief paper reports the case of a 17- year-old female with a complicated sickle cell anaemia, hypertension and paraplegia (after an ischaemic stroke at the age of six years). Oral examination revealed the absence of tooth 12, fractures of teeth 11, 21 and 22 (from trauma), active caries lesions in the enamel of teeth 36, 37 and 46, mucosal pallor, and a smooth tongue. Oral radiographs revealed bone rarefaction and trabecular bone coarsening. Dental surgeons and physicians should be aware of the general and oral abnormalities that can be present in individuals with sickle cell anaemia to allow for preventive measures and implementation of effective treatment options. PMID:22976572

Mello, Sandra M F; Paulo C Araujo, Roberto; Alves, Cresio



Endovascular stent graft treatment of acute thoracic aortic transections due to blunt force trauma.  


Endovascular stent graft treatment of acute thoracic aortic transections is an encouraging minimally invasive alternative to open surgical repair. Between 2006 and 2008, 16 patients with acute thoracic aortic transections underwent evaluation at our institution. Seven patients who were treated with an endovascular stent graft were reviewed. The mean Glasgow Coma Score was 13.0, probability of survival was .89, and median injury severity score was 32. The mean number of intensive care unit days was 7.7, mean number of ventilator support days was 5.4, and hospital length of stay was 10 days. Mean blood loss was 285 mL, and operative time was 143 minutes. Overall mortality was 14%. Procedure complications were a bleeding arteriotomy site and an endoleak. Endovascular treatment of traumatic thoracic aortic transections appears to demonstrate superior results with respect to mortality, blood loss, operative time, paraplegia, and procedure-related complications when compared with open surgical repair literature. PMID:19443864

Bjurlin, Marc A; Tanquilut, Eugene M; Subram, Aswath; Kalkounos, Peggy; Merlotti, Gary J



Klebsiella pneumoniae liver abscess associated with septic spinal epidural abscess.  


A 56-year-old Japanese man with hypertension presented with a 10 days history of high fever, right and left upper quadrant tenderness. An abdominal ultrasonography and computerized tomographic scan revealed a large collection in the right lobe of the liver that was consistent with an abscess. A drainage catheter was placed and purulent fluid was drained. Cultures of the fluid and blood were positive for a strain of ampicillin-resistant Klebsiella pneumoniae. Six days after admission, paraplegia and urinary retention were found. On the neurological examination, deep tendon reflexes of the lower extremities were absent bilaterally. Magnetic resonance imaging scan detected thoracic spinal epidural abscess and paraspinal abscess. He received the emergent decompressive laminectomy. Culture of surgical specimen grew ampicillin-resistant K. pneumoniae. The patient was treated with biapenem intravenously. Thereafter, clinical symptoms improved gradually and he was removed to the professional hospital to continue rehabilitation for gait disturbance on hospital day 147. PMID:15652471

Kuramochi, Gen; Takei, Shin-Ichi; Sato, Munehiro; Isokawa, Osamu; Takemae, Takashi; Takahashi, Akira



Opportunistic metastatic porocarcinoma after saphenous venectomy for coronary bypass surgery.  


Immunocompromised areas of the skin, caused by chronic lymphoedema, paraplegia, infections or traumas, represent a site of regional neuroimmunocutaneous destabilization, termed the immunocompromised cutaneous district (ICD), in which malignancies and other opportunistic disorders are more likely to occur. We report the case of a metastatic porocarcinoma (PC) occurring on a lymphoedematous limb in a 72-year-old man. We reviewed the literature to better understand the potential pathogenetic mechanisms behind this condition. It has been reported that removal of the leg vein destroys the medial group of the superficial lymphatic vessels and alters the normal lymph drainage of the leg, predisposing to recurrent cellulitis. Our observations suggest that saphenous venectomy can induce development of an ICD. We suggest that PC, a rare cutaneous tumour, should be included in the growing list of tumours arising in the ICD. PMID:23777492

Baroni, A; Russo, T; Piccolo, V; Siano, M; Russo, D; Nacca, L; Ruocco, E



Obesity predictors in people with chronic spinal cord injury: an analysis by injury related variables  

PubMed Central

BACKGROUND: Despite an elevated obesity risk in people with spinal cord injury (SCI), investigation on the effects of age, obesity predictors, and injury related factors is yet to be unknown within the SCI population. METHODS: Obesity predictors were measured in 162 patients. RESULTS: 27.5% of the participants were overweight and 5.6% of them were obese. Mean BMI was different between patients with tetraplegia and paraplegia (p < 0.01). More than 20% of participants had central obesity, significantly patients with higher age and time since injury. CONCLUSIONS: Significant positive relationship was found between level of injury and BMI. Participants with higher age and time since injury had higher waist circumference.

Sabour, Hadis; Javidan, Abbas Noroozi; Vafa, Mohammad Reza; Shidfar, Farzad; Nazari, Maryam; Saberi, Hooshang; Rahimi, Abbas; Razavi, Hasan Emami



Peripheral Primitive Neuroectodermal Tumour in a Dog.  


A 1-year-old German shepherd dog was presented with paraparesis quickly progressing to paraplegia. Magnetic resonance imaging revealed a large mass beneath the thoracolumbar vertebral column infiltrating the spinal canal and resulting in severe extradural compression of the spinal cord. Microscopically, this comprised a cell-rich unencapsulated tumour supported by fine bands of a fibrovascular stroma and occasionally forming primitive rosettes. Immunohistochemistry showed the tumour cells to express synaptophysin and neuron-specific enolase. Ultrastructurally, the neoplastic cells had low to moderate numbers of intracytoplasmic neurosecretory granules. A peripheral primitive neuroectodermal tumour was diagnosed. This is a rare embryonal tumour of neural origin that may have arisen from adrenal medulla, autonomic ganglia or peripheral nerves. PMID:23714380

Junginger, J; Röthlisberger, A; Lehmbecker, A; Stein, V M; Ludwig, D C; Baumgärtner, W; Seehusen, F



In utero Repair of Myelomeningocele: Rationale, Initial Clinical Experience and a Randomized Controlled Prospective Clinical Trial  

PubMed Central

Myelomeningocele (MMC), one of the most common congenital malformations, can result in severe lifelong disabilities, including paraplegia, hydrocephalus, Arnold-Chiari II malformation, incontinence, sexual dysfunction, skeletal deformations, and mental impairment. MMC was the first nonlethal anomaly to be treated by fetal surgery. Studies in animals provide compelling evidence that the primary cause of the neurological deficit associated with MMC is not simply incomplete neurulation but rather chronic mechanical injury and amniotic-fluid-induced chemical trauma that progressively damage the exposed neural tissue during gestation. Initial results suggest that the surgical repair of MMC before 25 weeks of gestation may preserve neurological function, reverse the hindbrain herniation of the Arnold-Chiari II malformation, and obviate the need for postnatal placement of a ventriculoperitoneal shunt. As it is currently unknown whether fetal surgery for MMC is truly beneficial compared to standard postnatal care, a randomized, controlled clinical trial has been initiated within the United States.

Danzer, Enrico; Flake, Alan W.



Intrauterine treatment of spina bifida: primate model.  


A spina-bifida-like condition was induced in 8 Macaca mulatta fetuses by intra-uterine lumbar laminectomy (L3-L5) followed by displacement of the spinal cord from the central canal. This condition was repaired in utero in 5 animals. A key feature of the repaired in utero in 5 animals. A key feature of the repair method was the use of allogeneic bone paste made from fetal bone particles suspended in an agar-thickened modified Dulbecco's medium. The bone paste was used to correct the bone deficit produced by the laminectomy. All of the monkey babies were delivered by cesarean section at near term (160-164 days of gestation). Neurological test on the neonates and subsequent morphological studies indicated that the in utero treated animals developed normally. In contrast, 3 control animals, which had the induced spinal dysraphism but were left untreated, showed severe spina-bifida-like abnormalities, including paraplegia, incontinence and somatosensory loss. PMID:6388186

Michejda, M



Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature  

SciTech Connect

We report on clinical and cytogenetic data on 5 children and 2 adults with a de novo inverted duplication of the short arm of chromosome 8, and we give a review of 26 patients from the literature. The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay. In older patients the facial traits are less characteristic, spastic paraplegia develops, and severe orthopedic problems are frequent. Psychomotor retardation is always severe-to-profound. Duplication of 8p21-p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. It is shown that in all patients examined, the duplication was accompanied by a deletion of the most terminal part of 8p. 16 refs., 4 figs., 2 tabs.

Die-Smulders, C.E.M. de; Engelen, J.J.M.; Schrander-Stumpel, C.T.R.M. [Univ. of Limburg, Maastricht (Netherlands)] [and others



Gait planning and double support phase model for functional electrical stimulation-based walking.  


Joint or segment angle trajectories of able-bodied persons are often recorded or mimicked as reference trajectories for walking restoration in paraplegia. In this paper, lower limb segment angle trajectories are computed from simple mathematical models developed to represent functional electrical stimulation (FES) and a novel brace based walking. The new models incorporate the double support and single support phases of walking. Dynamic optimization is utilized to design walking trajectories that minimize muscle activations and arm reaction forces generated from the walker. Compared to the voluntary walking trajectories, the new trajectories are more representative of FES-based walking as only a limited number of muscle are stimulated to compute walking trajectories. PMID:23366286

Sharma, Nitin; Stein, Richard



[A case of neuro-Behçet's disease with repeating isolated thoracic spinal cord lesion].  


We reported a 45-year-old man who had repeated isolated thoracic spinal cord lesion on MRI in the clinical course of seven years. He had transient bilateral plantar numbness and urinary retention on December, 1994. Then, spastic paraplegia, total anesthesia of feet, and severe sphincter disturbance struck him on May, 1995. He was diagnosed as incomplete Behçet's disease and neuro-Behçet's disease on June, 1995 because of recurrent oral aphta, genital ulceration, and foliculitis. T2-weighted magnetic resonance imaging showed high intensity enhanced with Gd-DTPA in thoracic spinal cord from Th 5 to 8 level. Any other abnormal lesion on brain or spinal MRI was not observed. He was treated with corticosteroids and recovered incompletely. Another two big attacks occurred to him. No new lesion but thoracic spinal cord lesion was observed. We conclude that this case is the first reported example of neuro-Behçet's disease with repeating isolated thoracic spinal cord lesion. PMID:12884805

Shiote, Mito; Kido, Yukiko; Hayashi, Takeshi; Manabe, Yasuhiro; Kashihara, Ken-ichi; Nagano, Isao; Shoji, Mikio; Abe, Koji



Motor Weakness after Caudal Epidural Injection Using the Air-acceptance Test  

PubMed Central

Air injected into the epidural space may spread along the nerves of the paravertebral space. Depending on the location of the air, neurologic complications such as multiradicular syndrome, lumbar root compression, and even paraplegia may occur. However, cases of motor weakness caused by air bubbles after caudal epidural injection are rare. A 44-year-old female patient received a caudal epidural injection after an air-acceptance test. Four hours later, she complained of motor weakness in the right lower extremity and numbness of the S1 dermatome. Magnetic resonance imaging showed no anomalies other than an air bubble measuring 13 mm in length and 0.337 ml in volume positioned near the right S1 root. Her symptoms completely regressed within 48 hours.

Lee, Mi Hyeon; Han, Cheol Sig; Lee, Sang Hoon; Lee, Jeong Hyun; Choi, Eun Mi; Choi, Young Ryong



[Rehabilitation for cancer patients].  


In Japan, the number of patients with cancer is increasing drastically with the increase in number of elderly people. Therefore, recently, the necessity of rehabilitation for cancer patients has been realized. Cancer rehabilitation can be classified as preventive, restorative, supportive, or palliative and is administered according to the degree of cancer progression. Rehabilitation is of great significance even for patients with progressive cancer as it helps maintain their quality of life. Various forms of impairment, disability, and handicap are associated with cancer rehabilitation. Examples of impairments that cancer patients experience are hemiplegia and higher brain dysfunction in brain tumor cases, paraplegia and quadriplegia in spinal or spinal cord tumor cases, neuropathy and radiculopathy in cases of tumor invasion, complications after surgery, peripheral neuropathy after chemotherapy, and dysphagia after radiotherapy. It is important to evaluate these impairments and the risks associated with rehabilitation. PMID:24047769

Tanuma, Akira



Hybrid orthosis system with a variable hip coupling mechanism.  


Existing reciprocating gait orthoses, to help restore gait to individuals with paraplegia, have a fixed 1:1 hip flexion/extension coupling ratios (FECR), limiting stride length and gait speed. The purpose of this study was to develop a hip reciprocating mechanism for the hybrid orthosis system that is capable of variable hip FECR. The design of the new variable hip reciprocating mechanism incorporates a hydraulic system which utilizes solenoid valves to control coupling between cylinders linked to each hip joint of the orthosis. A specific set of valves are pulsed to achieve continual variable hip coupling. It was shown that piston velocity was inversely proportional to pulse width and also dependent on pulsing frequency. Internal losses in the hydraulic hip reciprocating mechanism occur primarily in the cylinders. Feedback control will be achieved with a dual layer gait event detector consisting of a fuzzy inference system and a set of supervisory rules. PMID:17946991

To, C S; Kobetic, R; Triolo, R J



Management of Acute Aortic Syndrome and Chronic Aortic Dissection  

SciTech Connect

Acute aortic syndrome (AAS) describes several life-threatening aortic pathologies. These include intramural hematoma, penetrating aortic ulcer, and acute aortic dissection (AAD). Advances in both imaging and endovascular treatment have led to an increase in diagnosis and improved management of these often catastrophic pathologies. Patients, who were previously consigned to medical management or high-risk open surgical repair, can now be offered minimally invasive solutions with reduced morbidity and mortality. Information from the International Registry of Acute Aortic Dissection (IRAD) database demonstrates how in selected patients with complicated AAD the 30-day mortality from open surgery is 17% and endovascular stenting is 6%. Despite these improvements in perioperative deaths, the risks of stroke and paraplegia remain with endovascular treatment (combined outcome risk 4%). The pathophysiology of each aspect of AAS is described. The best imaging techniques and the evolving role of endovascular techniques in the definitive management of AAS are discussed incorporating strategies to reduce perioperative morbidity.

Nordon, Ian M., E-mail:; Hinchliffe, Robert J.; Loftus, Ian M.; Morgan, Robert A.; Thompson, Matt M. [St George's Hospital, St. George's Vascular Institute, St. James' Wing (United Kingdom)



Tuberculosis of spine  

PubMed Central

Tuberculosis of the spine is one of the most common spine pathology in India. Over last 4 decades a lot has changed in the diagnosis, medical treatment and surgical procedures to treat this disorder. Further developments in diagnosis using molecular genetic techniques, more effective antibiotics and more aggressive surgical protocols have become essential with emergence of multidrug resistant TB. Surgical procedures such as single stage anterior and posterior stabilization, extrapleral dorsal spine anterior stabilization and endoscopic thoracoscopic surgeries have reduced the mortality and morbidity of the surgical procedures. is rapidly progressing. It is a challenge to treat MDR-TB Spine with late onset paraplegia and progressive deformity. Physicians must treat tuberculosis of spine on the basis of Culture and sensitivity.

Agrawal, Vinod; Patgaonkar, P. R.; Nagariya, S. P.



New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome  

SciTech Connect

The neural cell-adhesion molecule L1 is involved in intercellular recognition and neuronal migration in the CNS. Recently, we have shown that mutations in the gene encoding L1 are responsible for three related disorders; X-linked hydrocephalus, MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome, and spastic paraplegia type I (SPG1). These three disorders represent a clinical spectrum that varies not only between families but sometimes also within families. To date, 14 independent L1 mutations have been reported and shown to be disease causing. Here we report nine novel L1 mutations in X-linked hydrocephalus and MASA-syndrome families, including the first examples of mutations affecting the fibronectin type III domains of the molecule. They are discussed in relation both to phenotypes and to the insights that they provide into L1 function. 39 refs., 5 figs., 3 tabs.

Jouet, M.; Kenwick, S. [Univ. of Cambridge (United Kingdom); Moncla, A. [Hopital d`Enfants de la Timone, Marseillas (United Kingdom)] [and others



Lumbosacral plexus injury following vaginal delivery with epidural analgesia -A case report-  

PubMed Central

A 26 year old, healthy, 41 week primiparous woman received a patient-controlled epidural analgesia (PCEA) and experienced paraplegia 11 hours later after a vaginal delivery. This was thought to be the result of complications from PCEA but there was no specific abnormality on magnetic resonance imaging (MRI) of the lumbosacral spine. On an electromyography (EMG) study performed 15 days following delivery, signs of tibial neuropathy were present and peripheral nerve injury during vaginal delivery was suspected. Motor weakness and hypoesthesia of both lower extremities improved rapidly, but a decrease in the desire to urinate or defecate, followed by urinary incontinence and constipation persisted, We suspected the sacral plexus had been severely damaged during vaginal delivery. Seven months later, the patient's conditions improved but had not fully recovered.

Park, Seil; Park, Sung Wook



Pott's Spine: Diagnostic Imaging Modalities and Technology Advancements  

PubMed Central

Spinal tuberculosis (TB) or Pott's spine is the commonest extrapulmonary manifestation of TB. It spreads through hematogenous route. Clinically, it presents with constitutional symptoms, back pain, tenderness, paraplegia or paraparesis, and kyphotic or scoliotic deformities. Pott's spine accounts for 2% of all cases of TB, 15% of extrapulmonary, and 50% of skeletal TB. The paradiscal, central, anterior subligamentous, and neural arch are the common vertebral lesions. Thoracic vertebrae are commonly affected followed by lumbar and cervical vertebrae. Plain radiographs are usually the initial investigation in spinal TB. For a radiolucent lesion to be apparent on a plain radiograph there should be 30% of bone mineral loss. Computed tomographic scanning provides much better bony detail of irregular lytic lesions, sclerosis, disc collapse, and disruption of bone circumference than plain radiograph. Magnetic resonance imaging (MRI) is the best diagnostic modality for Pott's spine and is more sensitive than other modalities. MRI frequently demonstrates disc collapse/destruction, cold abscess, vertebral wedging/collapse, marrow edema, and spinal deformities. Ultrasound and computed tomographic guided needle aspiration or biopsy is the technique for early histopathological diagnosis. Recently, the coexistence of human immunodeficiency virus infections and TB has been increased globally. In recent years, diffusion-weighted MRI (DW-MRI) and apparent diffusion coefficient values in combination with MRI are used to some extent in the diagnosis of spinal TB. We have reviewed related literature through internet. The terms searched on Google scholar and PubMed are TB, extrapulmonary TB, skeletal TB, spinal TB, Pott's spine, Pott's paraplegia, MRI, and computed tomography (CT).

Ansari, Sajid; Amanullah, Md. Farid; Ahmad, Kaleem; Rauniyar, Raj Kumar



Protection against spinal cord ischaemia: one-shot infusion of hypothermic solution.  


The protective effect of a one-short infusion of a range of low-temperature hypothermic solutions against spinal cord ischaemia was investigated. Forty rabbits were allocated into five groups each of eight animals. The abdominal aorta of each rabbit was clamped distal to the left renal artery, and also occluded for 30 min above the iliac bifurcation with an inflated 50-gauge French balloon catheter. Ringer's solution with lactate was infused through the catheter port distal to the balloon, at various temperatures (group I, uninfused control; group II, 33 degrees C; group III, 23 degrees C; group IV, 13 degrees C; and group V, 3 degrees C). The neurological status of the hind limbs was assessed on the second postoperative day using the criteria of Tarlov. A further eight rabbits underwent laminectomy at L2 or L3. Temperature probes were inserted into the spinal cord and the cord temperature monitored continuously during infusion in four rabbits from each of groups I and V. Spastic paraplegia occurred in five rabbits in group I, three in group II, and two in group III. Four rabbits in groups II and III, seven in group IV and all eight in group V showed complete recovery of neurological function. The infusion of 3 degrees C solution achieved significantly lower spinal cord temperatures in group V after aortic clamping, compared with the temperatures in group I (P < 0.001-0.005). It was concluded that protection against spinal cord ischaemia and prevention of postoperative paraplegia are promoted as the temperature of the hypothermic infusion solution is lowered. PMID:8049977

Ueno, T; Itoh, T; Hirahara, K; Sakai, M; Naitoh, K



Endovascular management of traumatic thoracic aortic injuries  

PubMed Central

Background Endovascular surgery has recently been extended to the treatment of blunt traumatic aortic injuries. Since most of these injuries occur at the aortic isthmus, graft fixation in proximity to the origin of the left subclavian artery (LSA) has been a concern. Covering the LSA with graft fabric lengthens the proximal fixation site and should minimize proximal endoleaks. We therefore wished to evaluate the feasibility and safety of endovascular repair of thoracic aortic injuries after blunt trauma, both with and without deliberate coverage of the LSA. Methods At a tertiary care teaching hospital in London, Ont., we reviewed our experience with endovascular repair of 7 traumatic aortic injuries. We reviewed the technical success rate and the incidence of left subclavian coverage. Major morbidity, including rates of paraplegia and death were noted. The patients were followed-up with serial CT to look for endoleaks, stent migration or aneurysm growth and to determine whether they had symptoms related to left subclavian coverage. Results The time from injury to treatment ranged from 7 hours to 7 days (mean 36 h). The mean Injury Severity Score was 36. All injuries were at the aortic isthmus, and among the 7 patients treated, 6 had deliberate coverage of the LSA. One patient underwent carotid-to-subclavian artery bypass, but the other 5 did not. There were no cases of paraplegia; 1 patient had symptoms of claudication in the left arm but did not want revascularization. No procedure-related complications occurred, and all patients survived the event. Follow-up ranged from 2 to 30 (mean 13) months, and no endoleaks, stent migration or aneurysm expansion were noted in follow-up. Conclusions Although long-term results are unknown, we conclude that endovascular repair of traumatic aortic injuries after blunt trauma can be performed safely with low morbidity and mortality and that coverage of the LSA without revascularization is tolerated by most patients.

Lawlor, D. Kirk; Ott, Michael; Forbes, Thomas L.; Kribs, Stewart; Harris, Kenneth A.; DeRose, Guy



Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease  

PubMed Central

Background The m-AAA (ATPases Associated with a variety of cellular Activities) is an evolutionary conserved metalloprotease complex located in the internal mitochondrial membrane. In the mouse, it is a hetero-oligomer variably formed by the Spg7, Afg3l1, and Afg3l2 encoded proteins, or a homo-oligomer formed by either Afg3l1 or Afg3l2. In humans, AFG3L2 and SPG7 genes are conserved, whereas AFG3L1 became a pseudogene. Both AFG3L2 and SPG7 are involved in a neurodegenerative disease, namely the autosomal dominant spinocerebellar ataxia SCA28 and a recessive form of spastic paraplegia, respectively. Results Using quantitative RT-PCR, we measured the expression levels of Spg7, Afg3l1, and Afg3l2 in the mouse brain. In all regions Afg3l2 is the most abundant transcript, followed by Spg7, and Afg3l1, with a ratio of approximately 5:3:1 in whole-brain mRNA. Using in-situ hybridization, we showed that Spg7, Afg3l1 and Afg3l2 have a similar cellular pattern of expression, with high levels in mitral cells, Purkinje cells, deep cerebellar nuclei cells, neocortical and hippocampal pyramidal neurons, and brainstem motor neurons. However, in some neuronal types, differences in the level of expression of these genes were present, suggesting distinct degrees of contribution of their proteins. Conclusions Neurons involved in SCA28 and hereditary spastic paraplegia display high levels of expression, but similar or even higher expression is also present in other types of neurons, not involved in these diseases, suggesting that the selective cell sensitivity should be attributed to other, still unknown, mechanisms.



Physiological Responses to Exergaming After Spinal Cord Injury  

PubMed Central

Purpose: To investigate whether exergaming satisfies guideline-based intensity standards for exercise conditioning (40%/50% oxygen uptake reserve [VO2R] or heart rate reserve (HRR), or 64%/70% of peak heart rate [HRpeak]) in persons with paraplegia. Methods: Nine men and women (18-65 years old) with chronic paraplegia (T1-L1, AIS A-C) underwent intensity-graded arm cycle exercise (AE) to evaluate VO2peak and HRpeak. On 2 randomized nonconsecutive days, participants underwent graded exercise using a custom arm cycle ergometer that controls the video display of a Nintendo Gamecube (GameCycle; Three Rivers Holdings LLC, Mesa, AZ) or 15 minutes of incrementally wrist-weighted tennis gameplay against a televised opponent (XaviX Tennis System; SSD Co Ltd, Kusatsu, Japan). Results: GameCycle exergaming (GCE) resistance settings ?0.88 Nm evoked on average ?50% VO2R. During XaviX Tennis System exergaming (XTSE) with wrist weights ?2 lbs, average VO2 reached a plateau of ~40% VO2R. Measurements of HR were highly variable and reached average values ?50% HRR during GCE at resistance settings ?0.88 Nm. During XTSE, average HR did not reach threshold levels based on HRR for any wrist weight (20%-35% HRR). Conclusions: On average, intensity responses to GCE at resistance setting ?0.88 Nm were sufficient to elicit exercise intensities needed to promote cardiorespiratory fitness in individuals with SCI. The ability of XTSE to elicit cardiorespiratory fitness benefits is most likely limited to individuals with very low fitness levels and may become subminimal with time if used as a conditioning stimulus.

Burns, Patricia; Kressler, Jochen; Nash, Mark S.



Normative Blood Pressure and Heart Rate in Pediatric Spinal Cord Injury  

PubMed Central

Background: Cardiovascular measures in children with spinal cord injury (SCI) may vary depending on the child’s age and physical development in addition to injury-related factors. Developmental changes should be considered when addressing cardiovascular complications in this population. Objectives: To determine baseline blood pressure (BP) and heart rate (HR) measurements in youth with SCI, and to investigate differences in BP and HR in relation to age, gender, body mass index (BMI), and injury-related factors. Methods: Retrospective chart review was conducted for youth under 19 years who had been admitted for rehabilitation at 1 of 2 pediatric SCI programs. Systolic (SBP) and diastolic (DBP) blood pressures and HR were collected in the morning and afternoon on 3 consecutive days. Mean SBP, DBP, and HR were compared among 4 age groups (0-5 years, 6-12 years, 13-15 years, and 16-18 years) and by gender. Diurnal variations were determined according to level and severity of injury. Associations with BMI and injury-related factors were examined. Charts of 315 youths were reviewed: mean age was 12.3 years, 59% were male, 75% were Caucasian, 62% had complete injury, and 66% had paraplegia. Results: With increasing age, SBP and DBP increased and HR decreased. SBP and DBP were positively correlated with BMI. SBP was higher in males, those with incomplete injury, and those with paraplegia. HR was higher in females. There was no association between cardiovascular measures and injury duration. Conclusion: BP and HR are a function of age, BMI, and completeness and level of injury in youth with SCI. Awareness of baseline measures will allow for more effective management of cardiovascular complications, especially in youth presenting with atypical symptoms.



Upper limb joint kinetics during manual wheelchair propulsion in patients with different levels of spinal cord injury.  


The purpose of this study was to compare the forces and moments of the whole upper limb, analyzing forces and moments at the shoulder, elbow and wrist joints simultaneously during manual wheelchair propulsion of persons with different levels of spinal cord injury (SCI) on a treadmill. Fifty-one people participated in this study and were grouped by their level of SCI: C6 tetraplegia (G1), C7 tetraplegia (G2), high paraplegia (G3), and low paraplegia (G4). An inverse dynamic model was defined to compute net joint forces and moments from segment kinematics, the forces acting on the pushrim, and subject anthropometrics. Right side, upper limb kinematic data were collected with four camcorders (Kinescan-IBV). Kinetic data were recorded by replacing the wheels with SmartWheels (Three Rivers Holdings, LLC). All participants propelled the wheelchair at 3km/h for 1min. The most noteworthy findings in both our tetraplegic groups in relation to paraplegic groups were increased superior joint forces in the shoulder (G1 and G2 vs G3 p<0.001; G1 and G2 vs G4 p<0.01), elbow (G1 vs G3 p<0.001; G1 vs G4 p<0.05) and wrist (G1 vs G4 p<0.001), an increased adduction moment in the shoulder (G1 vs G3 p<0.001; G1 vs G4 p<0.01; G2 vs G3 and G4 p<0.05) and the constancy of the moments of force of the wrist the fact that they reached their lowest values in the tetraplegic groups. This pattern may increase the risk of developing upper limb overuse injuries in tetraplegic subjects. PMID:20541760

Gil-Agudo, Angel; Del Ama-Espinosa, Antonio; Pérez-Rizo, Enrique; Pérez-Nombela, Soraya; Pablo Rodríguez-Rodríguez, Luis



The Sir Ludwig Guttmann lecture 2012: the contribution of Stoke Mandeville Hospital to spinal cord injuries.  


This Ludwig Guttmann Lecture was presented at the 2012 meeting of the International Spinal Cord Society in London. It describes the contribution of Stoke Mandeville Hospital to the field of spinal cord injuries. Dr Ludwig Guttmann started the Spinal Unit at Stoke Mandeville Hospital in 1944 and introduced a novel, comprehensive method of care, which included early admission, prevention and treatment of spinal cord injury related complications, active rehabilitation and social reintegration. Soon a dedicated specialist team was assembled and training of visitors was encouraged, some of whom went on to start their own spinal units. Research went hand in hand with clinical work, and over the years more than 500 scientific contributions from Stoke Mandeville have been published in peer reviewed journals and books. Guttmann introduced sport as a means of physical therapy, which soon lead to organised Stoke Mandeville Games, first national in 1948, then international in 1952 and finally the Paralympic Games in 1960. Stoke Mandeville is regarded as the birthplace of the Paralympic movement, and Guttmann was knighted in 1966. Stoke Mandeville is also the birthplace of the International Medical Society of Paraplegia, later International Spinal Cord Society, which was formed during the International Stoke Mandeville Games in 1961, and of the Society's medical journal Paraplegia, later Spinal Cord, first published in 1963. Guttmann's followers have continued his philosophy and, with some new developments and advances, the present day National Spinal Injuries Centre at Stoke Mandeville Hospital provides comprehensive, multidisciplinary acute care, rehabilitation and life-long follow-up for patient with spinal cord injuries of all ages. PMID:23045299

Frankel, H L



Animal Models of Human Disease: Severe and Mild Lead Encephalopathy in the Neonatal Rat*  

PubMed Central

Inorganic lead produces cerebral dysfunction and clinically definable encephalopathies in man. To date there have been few studies on the biochemical changes in brain following exposure to inorganic lead. Studies correlating toxicity with behavioral and brain neurochemical changes following lead exposure have been hindered because adult laboratory animals are resistant to the central nervous system effects of lead poisoning. Such studies have been impeded by lack of suitable experimental models until Pentschew and Garro showed that brain lesions develop in neonatal rats when a pregnant rat newly delivered of her litter is placed on a 4% lead carbonate containing diet. Lead passes into the developing sucklings via maternal milk. Lead-poisoned new-borns have pronounced retardation of growth and during the fourth week of ilfe develop the severe signs of lead encephalopathy, namely, extensive histological lesions of the cerebellum, brain edema, and paraplegia. There is an approximate 85-fold increase in the lead concentration of both the cerebellum and cerebral cortex relative to controls, but edema and gross vascular changes are confined to the cerebellum. Ingested lead had little effect on RNA, DNA, and protein concentrations of developing rat cerebellum and cerebral cortex. However, there was a reduction of between 10 and 20% in the DNA content of the cerebellum around 3 weeks of age in the lead-exposed sucklings. This suggests a failure of cell multiplication in this part of the brain. A critical evaluation of this experimental approach indicated that under similar dietary conditions experimental lactating rats eat 30% less food than controls resulting in: (a) sustained loss in body weight of nursing mothers and that (b) offsprings who develop paraplegia and cerebellar damage do so after gaining access to lead containing diet. We have studied mothers' food consumption and body weight changes and blood, milk, and brain lead content; and newborns' body and brain weight changes, blood and brain lead content, and brain serotonin (5HT), norepinephrine (NE), dopamine (DA), and ?-aminobutyric acid (GABA). We have found that a lactating mother rat eating 5% lead acetate (2.73% Pb) produced milk containing 25 ppm lead. When the mothers' diet is changed at day 16 from 5% PbAc to one containing 25 ppm Pb, and neonates allowed free access to the solid diet, the sucklings still have retarded body growth but do not develop paraplegia or grossly apparent vascular damage of the cerebellum. However, during the fourth week these animals exhibit a less severe form of “encephalopathy” consisting of hyperactivity, tremors, and stereotype behavior. Pair-fed controls coetaneous to experimental groups do not display such activities. There was no change in brain 5HT, GABA, or NE, but a 15–20% decrease in brain DA. Change in DA relative to other monoamines suggests a relationship between CNS dysfunction due to lead and DA metabolism in the brain. The experimental design as discribed provides a model of CNS dysfunction due to lead exposure without debilitating histopathologies. It is possible that our findings on increased motor activity and changes in brain dopamine may correspond to early responses to lead exposure before recognized overt signs of toxicity. ImagesFIGURE 1.FIGURE 2.

Michaelson, I. Arthur; Sauerhoff, Mitchell W.



Spinal Cord Blood Flow and Ischemic Injury after Experimental Sacrifice of Thoracic and Abdominal Segmental Arteries  

PubMed Central

OBJECTIVE Spinal cord blood flow (SCBF) after sacrifice of thoracoabdominal aortic segmental arteries (TAASA) during thoracoabdominal aortic aneurysm (TAAA) repair remains poorly understood. This study explored SCBF for 72h after sacrifice of all TAASA. METHODS Fourteen juvenile Yorkshire pigs underwent complete serial TAASA sacrifice (T4-L5). Six control pigs underwent anesthesia and cooling to 32C with no TAASA sacrifice. In the experimental animals, spinal cord function was continuously monitored using motor evoked potentials (MEP) until 1 hour (h) after clamping the last TAASA. Fluorescent microspheres enabled segmental measurement of SCBF along the entire spinal cord before, and 5 min, 1h, 5h, 24h and 72h after complete TAASA sacrifice. A modified Tarlov score was obtained for 3 days after surgery. RESULTS All the pigs with complete TAASA sacrifice retained normal cord function (MEP) until 1h after TAASA ligation. 7 pigs (50%) with complete TAASA sacrifice recovered after 72h; 7 pigs suffered paraparesis or paraplegia. Intraoperatively— and until 1h postoperatively— SCBF was similar among the three groups along the entire cord. Postoperatively, SCBF did not decrease in any group, but significant hyperemia occurred at 5 hours in controls and recovery animals, but did not occur in pigs that developed paraparesis or paraplegia in the T8-L2 segments (p=.0002) and L3-S segments (p=.0007). At 24h, SCBF remained marginally lower from T8 caudally; at 72h, SCBF was similar among all groups along the entire cord. SCBF in the segments T8-L2 at 5h predicted functional recovery (p=.003). CONCLUSIONS This study suggests that critical spinal cord ischemia after complete TAASA sacrifice does not occur immediately (intraoperatively), but is delayed 1–5 hours or longer after clamping, and represents failure to mount a hyperemic response to rewarming and awakening. The short duration of low SCBF associated with spinal cord injury suggests that hemodynamic and metabolic manipulation lasting only 24–72 hours may allow routine preservation of normal cord function despite sacrifice of all TAASA secondary to surgical or endovascular repair of large TAAA.

Etz, Christian D.; Homann, Tobias M.; Luehr, Maximilian; Zhang, Ning; Weisz, Donald J; Kleinman, George; Plestis, Konstadinos A.; Griepp, Randall B.



A potential protective effect of ?-tocopherol on vascular complication in spinal cord reperfusion injury in rats  

PubMed Central

Background Paraplegia remains a potential complication of spinal cord ischemic reperfusion injury (IRI) in which oxidative stress induced cyclooxygenase activities may contribute to ischemic neuronal damage. Prolonged administration of vitamin E (?-TOL), as a potent biological antioxidant, may have a protective role in this oxidative inflammatory ischemic cascade to reduce the incidence of paraplegia. The present study was designed to evaluate the preventive value of ?-TOL in IRI of spinal cord. Methods For this study, 50 male Sprague-Dawley rats were used and divided into five experimental groups (n = 10): Control group (C); ?-TOL control group (CE) which received intramuscular (i.m.) ?-TOL injections (600 mg/kg); Sham operated group (S), IRI rats were subjected to laparotomy and clamping of the aorta just above the bifurcation for 45 min, then the clamp was released for 48 hrs for reperfusion; and IRIE rats group, received 600 mg/kg of ?-TOL i.m. twice weekly for 6 weeks, followed by induction of IRI similar to the IRI group. At the end of the experimental protocol; motor, sensory and placing/stepping reflex evaluation was done. Plasma nitrite/nitrate (NOx) was measured. Then animals' spinal cord lumbar segments were harvested and homogenized for measurement of the levels of prostaglandin E2 (PGE2), malondialdehyde (MDA) and advanced oxidation products (AOPP), while superoxide dismutase (SOD) and catalase (CAT) activity were evaluated. Results Induction of IRI in rats resulted in significant increases in plasma levels of nitrite/nitrate (p < 0.001) and spinal cord homogenate levels of PGE2, MDA, advanced oxidation protein products AOPP and SOD with significant reduction (p < 0.001) in CAT homogenate levels. Significant impairment of motor, sensory functions and placing/stepping reflex was observed with IRI induction in the spinal cord (p < 0.001). ?-TOL administration in IRIE group significantly improved all the previously measured parameters compared with IRI group. Conclusions ?-TOL administration significantly prevents the damage caused by spinal cord IRI in rats with subsequent recovery of both motor and sensory functions. Alpha-tocopherol improves the oxidative stress level with subsequent reduction of the incidence of neurological deficits due to spinal cord IRI conditions.



Adverse neurological outcomes in Nigerian children with sickle cell disease.  


Sickle cell disease (SCD) is reported to be the most common genetic disorder affecting Nigerians. Children with SCD are at a high risk of neurological morbidity. The main objective of this study was to determine the pattern of adverse neurological outcomes among a cohort of Nigerian children with SCD. All children with SCD seen in the Department of Paediatrics, University College Hospital, Ibadan, Nigeria, over a period of 2 years were carefully evaluated for symptoms and signs of neurological complications, defined as clinical outcomes referable to the central nervous system. Of the 214 children evaluated, 187 were diagnosed with Hb SS disease and 27 with Hb SC disease. Neurological complications were identified in 78 (36.4 %) of the cases. The most common complications were headache (17.8 %), seizure (9.3 %) and stroke (8.4 %). Other less frequent complications included bacterial meningitis (2.8 %), spontaneous visual loss (1.4 %), paraplegia (0.9 %) and transient ischaemic attacks (0.9 %). Neurological complications occurred more frequently in children with sickle cell anaemia than in those with Hb SC disease (P = 0.002, 95 % CI 1.450-82.870). Adverse neurological events are common in Nigerian children with SCD, with a significantly higher risk in Hb SS than Hb SC disease. Stroke represents a major underlying cause of symptomatic epilepsy in SCD. Institution of primary preventive measures for stroke in SCD will significantly reduce the burden of stroke and epilepsy associated with SCD in Nigeria. PMID:23129067

Lagunju, I A; Brown, B J



A case of spinal cord injury-related pain with baseline rCBF brain SPECT imaging and beneficial response to gabapentin.  


Central pain following spinal cord injury is poorly understood, and is often resistant to conventional pain therapy regimens. We describe an individual with paraplegia who for many years experienced rapidly fluctuating, severe, unilateral pain below the level of his lesion. Prior to the initiation of pharmacological treatment, regional cerebral blood flow (rCBF) was measured during PAIN and NON-PAIN states using single photon emission computed tomography (SPECT). When experiencing pain, the subject had increased anterior cingulate gyrus blood flow, increased thalamic blood flow bilaterally and increased somatosensory cortex blood flow contralaterally but decreased caudate blood flow bilaterally. The subject's subsequent clinical course included a trial of gabapentin which produced a substantial reduction in frequency and average intensity of his episodic pain and which has been maintained for almost 2 years. This case demonstrates the correspondence between rCBF and pain associated with spinal cord injury and also suggests the potential utility of gabapentin for treatment of this central pain state. PMID:9839825

Ness, T J; San Pedro, E C; Richards, J S; Kezar, L; Liu, H G; Mountz, J M



Model for in vivo analysis of immune response to Herpes Simplex virus, type 1 infections  

SciTech Connect

A murine model was developed which allowed study of autologous humoral and cellular immune responses (CCMI) to a Herpes Simplex Virus, type 1 (HSV-1) infection. Lethal irradiation was used to render BAlb/c mice non-responsive to T-dependent and T-independent antigens. The immune system of the irradiated animals was reconstituted with either HSV-1 primed or non-immune syngeneic spleen cells and the mice were infected with HSV-1 in the rear footpad. Whereas unirradiated mice showed no symptoms of infection, X-irradiated animals followed a clinical course of lesions, monoplegia, paraplegia and death by day 9. Irradiated animals reconstituted with HSV-1 primed spleen cells recovered from the HSV-1 infection following a transient appearance of lesions. HSV-1 infected, immunodeficient animals reconstituted with unprimed spleen cells survived for 12 days post infection. Removal of T cells from the reconstituting cell population prevented both the recovery mediated by the primed cells and the partial protection mediated by the unprimed cells, however, removal of B cells had no effect on the course of infection. The role of autologous anti-HSV-1 antibody in protection from an HSV-1 infection was assessed HSV-1 primed mice treated with cyclophosphamide to abolish their cell mediated immunity.

Alexander, T.S.



The molecular architecture of the metalloprotease FtsH  

PubMed Central

The ATP-dependent integral membrane protease FtsH is universally conserved in bacteria. Orthologs exist in chloroplasts and mitochondria, where in humans the loss of a close FtsH-homolog causes a form of spastic paraplegia. FtsH plays a crucial role in quality control by degrading unneeded or damaged membrane proteins, but it also targets soluble signaling factors like ?32 and ?-CII. We report here the crystal structure of a soluble FtsH construct that is functional in caseinolytic and ATPase assays. The molecular architecture of this hexameric molecule consists of two rings where the protease domains possess an all-helical fold and form a flat hexagon that is covered by a toroid built by the AAA domains. The active site of the protease classifies FtsH as an Asp-zincin, contrary to a previous report. The different symmetries of protease and AAA rings suggest a possible translocation mechanism of the target polypeptide chain into the interior of the molecule where the proteolytic sites are located.

Bieniossek, Christoph; Schalch, Thomas; Bumann, Mario; Meister, Markus; Meier, Reto; Baumann, Ulrich



[A case of spastic tetraplegia with medullo-cervical atrophy].  


A 48-year-old man, who had spastic tetraplegia and a marked atrophy of the medulla oblongata and upper cervical cord, was reported. He began to walk in spastic fashion at the age of 12 years, and was diagnosed as spastic paraplegia. His father, whose onset of the disorder was 35 years old and died of pneumonia at the age of 69 years, manifested symptoms and a course, both resembling those of the present patient. Generalized weakness progressed gradually, and the patient was confined to bed in his forties. On admission, he showed markedly increased tendon reflexes and pathological reflexes in all the extremities. Muscular weakness was severe in the neck, trunk and extremities, and mild in the facial muscles. There were neither bulbar sign, significant respiratory failure nor fasciculation of muscles. A needle EMG examination revealed no apparent neuropathic findings. MR imaging showed a marked atrophy of the medulla oblongata and upper cervical cord, which was not considered to be secondary to vascular or infectious diseases. Though sensory evoked potentials showed no response at the latencies of central nervous components, visual evoked potentials, brainstem auditory evoked response and blink reflex were normal. This case might represent an unknown hereditary degenerative disease with autosomal dominant inheritance. PMID:9503978

Saito, Y; Nishio, T; Arakawa, K; Ogawa, M; Sunohara, N



Structural neuroplasticity following T5 spinal cord transection: increased cardiac sympathetic innervation density and SPN arborization  

PubMed Central

When the spinal cord is injured at or below thoracic level 5 (T5), cardiovascular control is markedly unbalanced as the heart and blood vessels innervated by upper thoracic segments remain under brain stem control, whereas the vasculature of the lower body is affected by unregulated spinal reflexes. Importantly, the regulation of heart rate and cardiac function is abnormal after spinal cord injury (SCI) at T5 because sympathetic outflow to the heart is increased. An increase in tonic sympathetic outflow may be attributable to multiple mechanisms, such as increases in cardiac sympathetic innervation density, altered morphology of stellate ganglia neurons, and/or structural neuroplasticity of cardiac sympathetic preganglionic neurons (SPNs). Furthermore, these neuroplastic changes associated with SCI may be mediated by nerve growth factor (NGF). NGF is a neurotrophin that supports the survival and differentiation of sympathetic neurons and enhances target innervation. Therefore, we tested the hypothesis that T5 spinal cord transection (T5X) is associated with an increased left ventricular (LV) NGF content, LV sympathetic innervation density, and cardiac SPN arborization. In intact and paraplegic (9 wk posttransection) rats, LV NGF content (ELISA), LV sympathetic innervation density (tyrosine hydroxylase immunohistochemistry), and cardiac SPN arborization (cholera toxin B immunohistochemistry and Sholl Analysis) were determined. Paraplegia, compared with intact, significantly increased LV NGF content, LV sympathetic innervation density, and cardiac SPN arborization. Thus, altered autonomic behavior following SCI is associated with structural neuroplastic modifications.

Lujan, Heidi L.; Palani, Gurunanthan



Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders.  


A new autosomal recessive genetic condition, the SPOAN syndrome (an acronym for spastic paraplegia, optic atrophy and neuropathy syndrome), was recently discovered in an isolated region of the State of Rio Grande do Norte in Northeast Brazil, in a population that was identified by the IBGE (Brazilian Institute of Geography and Statistics) as belonging to the Brazilian communities with the highest rates of "deficiencies" (Neri, 2003), a term used to describe diseases, malformations, and handicaps in general. This prompted us to conduct a study of consanguinity levels in five of its municipal districts by directly interviewing their inhabitants. Information on 7,639 couples (corresponding to about 40% of the whole population of the studied districts) was obtained. The research disclosed the existence of very high frequencies of consanguineous marriages, which varied from about 9% to 32%, suggesting the presence of a direct association between genetic diseases such as the SPOAN syndrome, genetic drift and inbreeding levels. This fact calls for the introduction of educational programs for the local populations, as well as for further studies aiming to identify and characterize other genetic conditions. Epidemiological strategies developed to collect inbreeding data, with the collaboration of health systems available in the region, might be very successful in the prospecting of genetic disorders. PMID:21637472

Santos, Silvana; Kok, Fernando; Weller, Mathias; de Paiva, Francisco Rennan Lopes; Otto, Paulo A



The effect of HSP-causing mutations in SPG3A and NIPA1 on the assembly, trafficking, and interaction between atlastin-1 and NIPA1  

PubMed Central

Despite its genetic heterogeneity, hereditary spastic paraplegia (HSP) is characterized by similar clinical phenotypes, suggesting that a common biochemical pathway underlies its pathogenesis. In support of this hypothesis, we used a combination of immunoprecipitation, confocal microscopy, and flow cytometry to demonstrate that two HSP-associated proteins, atlastin-1 and NIPA1, are direct binding partners, and interestingly, that the endogenous expression and trafficking of these proteins is highly dependant upon their coexpression. In addition, we demonstrated that the cellular distribution of atlastin-1:NIPA1 complexes was dramatically altered by HSP-causing mutations, as missense mutations in atlastin-1 (R239C and R495W) and NIPA1 (T45R and G106R) caused protein sequestration in the Golgi complex (GC) and endoplasmic reticulum (ER), respectively. Moreover, we demonstrated that HSP-causing mutations in both atlastin-1 and NIPA1 reduced axonal and dendritic sprouting in cultured rat cortical neurons. Together, these findings support the hypothesis that NIPA1 and atlastin-1 are members of a common biochemical pathway that supports axonal maintenance, which may explain in part the characteristic degeneration of long spinal pathways observed in patients with HSP.

Botzolakis, Emmanuel J.; Zhao, Jiali; Gurba, Katharine N.; Macdonald, Robert L.; Hedera, Peter



Three Routes to Suppression of the Neurodegenerative Phenotypes Caused by Kinesin Heavy Chain Mutations  

PubMed Central

Kinesin-1 is a motor protein that moves stepwise along microtubules by employing dimerized kinesin heavy chain (Khc) subunits that alternate cycles of microtubule binding, conformational change, and ATP hydrolysis. Mutations in the Drosophila Khc gene are known to cause distal paralysis and lethality preceded by the occurrence of dystrophic axon terminals, reduced axonal transport, organelle-filled axonal swellings, and impaired action potential propagation. Mutations in the equivalent human gene, Kif5A, result in similar problems that cause hereditary spastic paraplegia (HSP) and Charcot–Marie–Tooth type 2 (CMT2) distal neuropathies. By comparing the phenotypes and the complementation behaviors of a large set of Khc missense alleles, including one that is identical to a human Kif5A HSP allele, we identified three routes to suppression of Khc phenotypes: nutrient restriction, genetic background manipulation, and a remarkable intramolecular complementation between mutations known or likely to cause reciprocal changes in the rate of microtubule-stimulated ADP release by kinesin-1. Our results reveal the value of large-scale complementation analysis for gaining insight into protein structure–function relationships in vivo and point to possible paths for suppressing symptoms of HSP and related distal neuropathies.

Djagaeva, Inna; Rose, Debra J.; Lim, Angeline; Venter, Chris E.; Brendza, Katherine M.; Moua, Pangkong; Saxton, William M.



Flexible organic field effect transistors for biomedical microimplants using polyimide and parylene C as substrate and insulator layers  

NASA Astrophysics Data System (ADS)

Biomedical micro implants are used as neural prostheses to restore body functions after paraplegia by means of functional electrical stimulation (FES). Polymer electronic technology offers the potential to integrate flexible electronic circuits on microelectrodes in order to overcome the limit of traditional FES systems. This paper describes an approach of flexible organic transistors in order to develop a flexible biomedical micro implant for FES use. Polyimide shows excellent biocompatibility and biostability properties for flexible multi-channel microelectrodes in neural prosthetics application (Stieglitz et al 1997 Sensors Actuators A 60 240-3). Therefore, it was used as a flexible substrate on which polymer transistors have to be integrated. Gold or platinum was sputtered as the gate, drain and source. In this paper polyimide has been investigated as a gate isolator because of its high flexibility and biocompatibility. Polyimide was spin coated and imidized at different temperatures and times. Pentacene (C14H22) was evaporated at UHV and 75 °C substrate temperature as an active layer in an organic field effect transistor (OFET). Plasma activation and self-assembled monolayer surface modification were used to advance the electrical properties of organic transistors. The whole transistor was encapsulated in parylene C that was evaporated at room temperature using a standard Gorham system (Gorham 1966 J. Polym. Sci. A-1 4 3027-39). Investigation of the electrical properties of the OFET using polyimide as the isolator led to promising results.

Feili, Dara; Schuettler, Martin; Doerge, Thomas; Kammer, Sascha; Hoffmann, Klaus Peter; Stieglitz, Thomas



Chapter 3: neurology in ancient Egypt.  


Neurology, in the modern sense, did not exist in ancient Egypt, where medicine was a compound of natural, magical and religious elements, with different practitioners for each form of healing. Nevertheless, Egyptian doctors made careful observations of illness and injury, some of which involved the nervous system. Modern scholars have three sources of information about Egyptian medicine: papyri, inscriptions, and mummified remains. These tell us that the Egyptians had words for the skull, brain, vertebrae, spinal fluid and meninges, though they do not say if they assigned any function to them. They described unconsciousness, quadriparesis, hemiparesis and dementia. We can recognize neurological injuries, such as traumatic hemiparesis and cervical dislocation with paraplegia, in the well known Edwin Smith surgical papyrus. Similarly recognizable in the Ebers papyrus is a description of migraine. An inscription from the tomb of the vizier Weshptah, dated c. 2455 BCE, seems to describe stroke, and Herodotus describes epilepsy in Hellenistic Egypt. We have very little understanding of how Egyptian physicians organized these observations, but we may learn something of Egyptian culture by examining them. At the same time, modern physicians feel some connection to Egyptian physicians and can plausibly claim to be filling a similar societal role. PMID:19892106

York, George K; Steinberg, David A



Failure and complication following surgical treatment of scoliosis--an analysis of 101 cases.  


Complications occur frequently after surgical treatment of scoliosis. In order to prevent from them effectively, 101 cases with failure and postoperative complications were analysed. They included rod fracture in 22 cases (15 Harrington rods, 4 Zielke rods, and 3 Luque rods); recurrence of curve severity in 12 cases; broken or loossened luque wires in 15 cases; loss of thoracic kyphosis (flat back) in 6 cases; progressive kyphosis with or without paraplegia following incorrect posterior decompression in 5 cases; and increased unbalance of shoulders after instrumentation in 2 cases due to neglect of the tilting of the first thoracic vertebra. Infection occurred in 8 cases (incision infection 7 cases, deep wound infection in 1 case); and pneumothorax in 1 case. They were induced by biomechanical factors in 23 cases (22.8%), incorrect selections of indications in 29 cases (28.7%), operational mistakes in 37 cases (36.6%), internal fixation factors in 15 cases (14.9%). The authors hold that there are quite a lot of factors leading to occurrence of complications and the effective way for prevention from them is to understand the factors and main technical points related to internal fixation. PMID:12903820

Lin, J; Zhang, J; Ye, Q; Sheng, J; Qiu, G



[Failure and complication following surgical treatment of scoliosis: analysis of 101 cases].  


Complications occur frequently after surgical treatment of scoliosis. In order to prevent from them effectively, 101 cases with failure and postoperative complications were analysed. They included rod fracture in 22 cases (15 Harrington rods, 4 Zielke rods, and 3 Luque rods); recurrence of curve severity in 12 cases; broken or loossened luque wires in 15 cases; loss of thoracic kyphosis (flat back) in 6 cases; progressive kyphosis with or without paraplegia following incorrect posterior decompression in 5 cases; and increased unbalance of shoulders after instrumentation in 2 cases due to neglect of the tilting of the first thoracic vertebra. Infection occurred in 8 cases (incision infection 7 cases; deep wound infection in 1 case); and pneumothorax in 1 cases. They were induced by biomechanical factors in 23 cases (22.77%), incorrect selections of indications in 29 cases (28.71%), oprational mistakes in 37 cases (36.63%), internal fixation factors in 15 cases (14.85%). The authors hold that there are quite a lot of factors leading to occurrence of complications and the effective way for prevention from them is to understand the factors and main technical points related to internal fixation. PMID:9594169

Ye, Q; Lin, J; Shen, J



Bilateral transpedicular decompression and Harrington rod stabilization in the management of severe thoracolumbar burst fractures.  


Fifty-eight patients with severe thoracolumbar burst fractures were treated with bilateral transpedicular decompression, Harrington rod instrumentation, and spine fusion. Spinal realignment and stabilization was achieved by contoured dual Harrington distraction rods supplemented by segmental sublaminal wiring. Posterior element fractures were noted in 25 patients, 9 of whom had associated dural tears. Computed tomography was performed to assess the cross-sectional area of the spinal canal before surgery and after decompression. Patients at initial evaluation averaged greater than 67% spinal canal compromise. After surgery, successful decompression was accomplished in 57 patients. One patient required staged, anterior thoracoabdominal decompression and fibula strut grafting. At follow-up (average, 43 months; range, 25-70 months), neurologic improvement was found in 77% of the patients who initially presented with neurologic deficits. Thirty-four of 40 patients with incomplete paraplegia improved one or more subgroups on the Frankel scale. A solid fusion was attained in all 58 patients. No patient had a significant residual kyphotic deformity. Single-stage bilateral transpedicular decompression and dual Harrington rod instrumentation reliably provides decompression of the spinal canal and restores spinal alignment. The procedure allows early mobilization and provides an environment for solid fusion and maximum neurologic return. PMID:1553587

Hardaker, W T; Cook, W A; Friedman, A H; Fitch, R D



Fetal tissue transplantation: legal and ethical implications of a "magic bullet".  


Fetal tissue transplants holds the best hope for those suffering from previously irreversible neurological diseases and injury (Parkinson's , Alzheimer's, paraplegia from spinal cord injury), yet the procedure raises complex questions of ethics, law, and biomedicine, and is linked with the abortion controversy since the primary source of fetal tissue comes from electively aborted fetuses. Assuming the superiority of fetal tissue transplant and its potential for significant improvement in the quality of life, we need to consider the implications for the pregnant woman, the fetus, the scientific community, and society in general. In 1974, Congress established the National Commission for the Protection of Human Subjects of Biomedical and Behavioral Research which considered the important competing values: protection of the individual vs. the advancement of science for the betterment of others. The federal government's involvement became most with the Reagan Administration's opposition to abortion and to fetal tissue transplant. The states have a variety of regulations controlling private research on fetal tissue; otherwise the Uniform Anatomical Gift Act (UAGA) (Nationwide) controls, allowing post mortem gifts of "all or part of the body" for research, therapy, or transplantation, and includes a "stillborn infant or fetus" within its definition of "decedent." Under the UAGA, nothing prevents a woman from getting pregnant solely to provide fetal tissue, even to sell the tissue. The present regulatory assortment lends itself to abuse; explicit regulations and comprehensive guidelines are needed to prevent the obvious abuses and to create a framework to decide questions as they become medically relevant. PMID:1821895

Bauer, A R



Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.  


A 19-year-old university student with no personal or family history of neurologic disorders developed convulsions and was administered phenytoin. Two months later, he developed lower limb-dominant acute demyelinating polyneuropathy, from which he recovered within 2 months. At age 20, he rapidly developed visual disturbances and paraplegia from phenytoin intoxication. Cranial magnetic resonance imaging (MRI) revealed leukoencephalopathy with no evidence of thrombosis or vasoconstriction. Hyperhomocysteinemia, hypomethioninemia, low serum folate concentration, and an absence of megaloblastic anemia were consistent with the diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency. A genomic DNA sequence analysis demonstrated compound heterozygosity for two missense mutations in the MTHFR gene, namely, [458G>T?+?459C>T] (Gly149Val) and 358G>A (Ala116Thr), both of which are known pathogenic mutations. An absence of leukoencephalopathic changes on MRI scans performed 9 months previously strongly suggested that phenytoin intoxication caused acute leukoencephalopathy. Therefore, phenytoin may be an aggravating factor of remethylation defects in patients with MTHFR deficiency. PMID:21480888

Arai, Motomi; Osaka, Hitoshi



Intramedullary Spinal Cord Metastasis of Choriocarcinoma  

PubMed Central

The authors describe a case of choriocarcinoma that metastasized to the cerebral cortex, vertebral body, and intramedullary spinal cord. A 21-year-old woman presented with sudden headache, vomiting and a visual field defect. Brain computed tomography and magnetic resonance examinations revealed an intracranial hemorrhage in the left temporo-parietal lobe and two enhancing nodules in the left temporal and right frontal lobe. After several days, the size of the hemorrhage increased, and a new hemorrhage was identified in the right frontal lobe. The hematoma and enhancing mass in the left temporo-parietal lobe were surgically removed. Choriocarcinoma was diagnosed after histological examination. At 6 days after the operation, her consciousness had worsened and she was in a state of stupor. The size of the hematoma in the right frontal lobe was enlarged. We performed an emergency operation to remove the hematoma and enhancing mass. Her mental status recovered slowly. Two months thereafter, she complained of paraplegia with sensory loss below the nipples. Whole spine magnetic resonance imaging revealed a well-enhancing mass in the thoracic intramedullary spinal cord and L2 vertebral body. Despite chemotherapy and radiotherapy, the patient died 13 months after the diagnosis.

Ko, Jun Kyeung; Cha, Seung Heon; Lee, Jung Hwan



October 1942: a strange epidemic paralysis in Saval, Verona, Italy. Revision and diagnosis 50 years later of tri-ortho-cresyl phosphate poisoning.  

PubMed Central

In the autumn of 1942 a strange epidemic paralysis started in Saval, at that time a country area but now part of the city of Verona. The epidemic went on for several months and affected 41 people, all working as owners or labourers on the same farm. Some of the farm animals (chickens, horses, cattle, pigs) also became ill. About 20 patients were admitted to the nearby city hospital. The outbreak was diagnosed as polyneuritis with a probable viral cause. Fifty years later, seven people with sequelae of the disease were examined. The most severe cases present a spastic paraplegia and lower leg muscle atrophy without sensory impairment, resembling an amyotrophic lateral sclerosis "frozen" for 50 years. The clinical syndrome can now be attributed confidently to organophosphate induced delayed polyneuropathy. All the epidemiological data obtained from the survivors were evaluated and a careful review of the literature was made. Contamination of the ground from a rubbish dump near the farmyard would explain the epidemiology of the Saval outbreak.

Tosi, L; Righetti, C; Adami, L; Zanette, G



Zebrafish models for the functional genomics of neurogenetic disorders.  


In this review, we consider recent work using zebrafish to validate and study the functional consequences of mutations of human genes implicated in a broad range of degenerative and developmental disorders of the brain and spinal cord. Also we present technical considerations for those wishing to study their own genes of interest by taking advantage of this easily manipulated and clinically relevant model organism. Zebrafish permit mutational analyses of genetic function (gain or loss of function) and the rapid validation of human variants as pathological mutations. In particular, neural degeneration can be characterized at genetic, cellular, functional, and behavioral levels. Zebrafish have been used to knock down or express mutations in zebrafish homologs of human genes and to directly express human genes bearing mutations related to neurodegenerative disorders such as spinal muscular atrophy, ataxia, hereditary spastic paraplegia, amyotrophic lateral sclerosis (ALS), epilepsy, Huntington's disease, Parkinson's disease, fronto-temporal dementia, and Alzheimer's disease. More recently, we have been using zebrafish to validate mutations of synaptic genes discovered by large-scale genomic approaches in developmental disorders such as autism, schizophrenia, and non-syndromic mental retardation. Advances in zebrafish genetics such as multigenic analyses and chemical genetics now offer a unique potential for disease research. Thus, zebrafish hold much promise for advancing the functional genomics of human diseases, the understanding of the genetics and cell biology of degenerative and developmental disorders, and the discovery of therapeutics. This article is part of a Special Issue entitled Zebrafish Models of Neurological Diseases. PMID:20887784

Kabashi, Edor; Brustein, Edna; Champagne, Nathalie; Drapeau, Pierre



Prevention of spinal cord injuries in an Australian study (New South Wales).  


The Spinal Awareness and Prevention Programme presented through the Royal North Shore Hospital and the Royal Rehabilitation Centre, in Sydney, NSW, Australia has grown considerably since 1982. Ten years later it is pleasing to report that the programme has grown in response to public demand and requires a full time coordinator, secretary and five disabled lecturers (part time). This prevention message now reaches over 100,000 school students throughout New South Wales every year as well as the community in general through media advertising. Over the last 5 years the annual incidence of spinal cord injury has dropped by 20% in New South Wales for motor vehicle accidents, contact sport and water related accidents. The 'lifetime' costs for paraplegia approach AUS$1,000,000 and for quadriplegia AUS$2,000,000. The reduction of serious spinal injuries means that at least 20 families in this State, with a population of nearly 6 million, will not this year have to face the tragedy and enormous challenge of permanent paralysis. There is now commitment to the promotion of prevention of spinal cord injuries. The annual cost of this programme to each individual in the community is less than 10 cents. PMID:8115168

Yeo, J D



Is cerebrospinal fluid drainage of benefit to neuroprotection in patients undergoing surgery on the descending thoracic aorta or thoracoabdominal aorta?  

PubMed Central

A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was ‘Is cerebrospinal fluid (CSF) drainage of benefit in patients undergoing surgery on the descending thoracic aorta or thoracoabdominal aorta?’ Altogether 1177 papers were found using the reported search, of which 17 represented the best evidence to answer the clinical question. The authors, journal, date and country of publication, patient group studied, study type, relevant outcomes and results of these papers are tabulated. Ten of 13 studies demonstrate significant neurological protection from CSF drainage (±additional adjuncts), with two further papers showing no significant difference between patients who had or had not had CSF drainage and one study unable to provide any conclusions. For patients having surgery on the thoracic aorta or thoracoabdominal aorta CSF drainage, maintaining pressures <10 mmHg (P < 0.03), in conjunction with other neuroprotective strategies, minimizes the risk of neurological sequelae when compared with patients treated with similar adjuncts but without CSF drainage. The majority of studies used additional neuroprotective strategies, including cooling and reattachment of the intercostal arteries as adjuncts to CSF drainage. Logistic regression curves demonstrated that the longer the ischaemia time, the greater the benefit from CSF drainage (P < 0.04). Four papers observed complications of CSF drainage, of which the main complications were: catheter occlusion or dislodgement, headache, meningitis and subdural haematoma. Overall, CSF drainage does offer a neuroprotective benefit; preventing paraplegia if CSF pressures are maintained <10 mmHg.

Bilal, Haris; O'Neill, Bridie; Mahmood, Sarah; Waterworth, Paul



Drosophila Spastin Regulates Synaptic Microtubule Networks and Is Required for Normal Motor Function  

PubMed Central

The most common form of human autosomal dominant hereditary spastic paraplegia (AD-HSP) is caused by mutations in the SPG4 (spastin) gene, which encodes an AAA ATPase closely related in sequence to the microtubule-severing protein Katanin. Patients with AD-HSP exhibit degeneration of the distal regions of the longest axons in the spinal cord. Loss-of-function mutations in the Drosophila spastin gene produce larval neuromuscular junction (NMJ) phenotypes. NMJ synaptic boutons in spastin mutants are more numerous and more clustered than in wild-type, and transmitter release is impaired. spastin-null adult flies have severe movement defects. They do not fly or jump, they climb poorly, and they have short lifespans. spastin hypomorphs have weaker behavioral phenotypes. Overexpression of Spastin erases the muscle microtubule network. This gain-of-function phenotype is consistent with the hypothesis that Spastin has microtubule-severing activity, and implies that spastin loss-of-function mutants should have an increased number of microtubules. Surprisingly, however, we observed the opposite phenotype: in spastin-null mutants, there are fewer microtubule bundles within the NMJ, especially in its distal boutons. The Drosophila NMJ is a glutamatergic synapse that resembles excitatory synapses in the mammalian spinal cord, so the reduction of organized presynaptic microtubules that we observe in spastin mutants may be relevant to an understanding of human Spastin's role in maintenance of axon terminals in the spinal cord.



Refractory spinal cord injury induced gastroparesis: resolution with erythromycin lactobionate, a case report.  


Erythromycin lactobionate (ERY), a macrolide antibiotic, has been the focus of investigation as a new gastrointestinal prokinetic agent. In individuals who are able-bodied (AB), ERY has shown promise in various forms of gastroparesis (GP). Recent evidence suggests that medications used to stimulate intestinal motility in individuals who are AB have had similar results in those individuals with spinal cord injury (SCI). Medications that have been used in the past for GP in SCI include metaclopramide, neostigmine, and bethanechol. In this observation, a patient with T-6 paraplegia, who developed GP secondary to acute SCI, is presented. During his hospital stay, the patient was treated with gastric decompression, bowel rest, H2 blockers, intravenous metaclopramide, and eventually required parenteral nutritional support. ERY was started and symptoms abated. At this point, the nasogastric tube was removed and oral feeding was successfully started. This case report is the first to describe a patient with refractory SCI-induced GP who responded to intravenous ERY. Further study in this area is warranted. PMID:10751126

Clanton, L J; Bender, J



Traumatic Aortic Injury: Single-center Comparison of Open versus Endovascular Repair  

PubMed Central

Background Conventional open repair is a suboptimal therapy for blunt traumatic aortic injury (BTAI) due to the high postoperative mortality and morbidity rates. Recent advances in the thoracic endovascular repair technique may improve outcomes so that it becomes an attractive therapeutic option. Materials and Methods From August 2003 to March 2012, 21 patients (mean age, 45.81 years) with BTAI were admitted to our institution. Of these, 18 cases (open repair in 11 patients and endovascular repair in 7 patients) were retrospectively reviewed and the early perioperative results of the two groups were compared. Results Although not statistically significant, there was a trend toward the reduction of mortality in the endovascular repair group (18.2% vs. 0%). There were no cases of paraplegia or endoleak. Statistically significant reductions in heparin dosage, blood loss, and transfusion amounts during the operations and in procedure duration were observed. Conclusion Compared with open repair, endovascular repair can be performed with favorable mortality and morbidity rates. However, relatively younger patients who have acute aortic arch angulation and a small aortic diameter may be a therapeutic challenge. Improvements in graft design, delivery sheaths, and graft durability are the cornerstone of successful endovascular repair.

Cho, Jun Woo; Lee, Sub; Jang, Jae Seok



Hybrid total arch repair without deep hypothermic circulatory arrest for acute type A aortic dissection (R1).  


OBJECTIVE: To investigate the surgical outcomes of hybrid total arch repair without deep hypothermic circulatory arrest for patients with acute Stanford type A aortic dissection. METHODS: Retrospective review of clinical data of patients with acute Stanford type A aortic dissection who underwent surgical repair at our institution between November 2009 and December 2011 identified 21 patients who underwent hybrid total arch repair without deep hypothermic circulatory arrest. The in-hospital and follow-up data were investigated. Postoperative serial computed tomography angiography was used to evaluate the fate of true and false lumen in arch and descending aorta. RESULTS: Mean follow-up was 13.8 months (range, 3 to 21 months). The 1- and 12-month survival rates (by Kaplan-Meier analysis) were 95.2% (95% confidence interval, 86.2%-100%) and 90.5% (95% confidence interval, 78.0%-100%), respectively. No endograft caudal migration occurred. One patient with type I endoleak was successfully resolved during operation. There was no late rupture or paraplegia. CONCLUSIONS: Hybrid total arch repair without deep hypothermic circulatory arrest offers a promising alternative to risk reduction of complications during the postoperative period and late adverse events resulting from false lumen enlargement in the arch and descending aorta. PMID:23142116

Chang, Qian; Tian, Chuan; Wei, Yizhen; Qian, Xiangyang; Sun, Xiaogang; Yu, Cuntao



Development of AMPA receptor and GABA B receptor-sensitive spinal hyper-reflexia after spinal air embolism in rat: a systematic neurological, electrophysiological and qualitative histopathological study  

PubMed Central

Decompression sickness results from formation of bubbles in the arterial and venous system, resulting in spinal disseminated neurodegenerative changes and may clinically be presented by motor dysfunction, spinal segmental stretch hyper-reflexia (i.e., spasticity) and muscle rigidity. In our current study, we describe a rat model of spinal air embolism characterized by the development of similar spinal disseminated neurodegenerative changes and functional deficit. In addition, the anti-spastic potency of systemic AMPA receptor antagonist (NGX424) or GABA B receptor agonist (baclofen) treatment was studied. To induce spinal air embolism, animals received an intra-aortic injection of air (50–200 ?l/kg). After embolism, the development of spasticity was measured using computer-controlled ankle rotation. Animals receiving 150 or 200 ?l of intra-aortic air injections displayed motor dysfunction with developed spastic (50–60% of animals) or flaccid (25–35% of animals) paraplegia at 5–7 days. MRI and spinal histopathological analysis showed disseminated spinal cord infarcts in the lower thoracic to sacral spinal segments. Treatment with NGX424 or baclofen provided a potent anti-spasticity effect (i.e., stretch hyper-reflexia inhibition). This model appears to provide a valuable experimental tool to study the pathophysiology of air embolism-induced spinal injury and permits the assessment of new treatment efficacy targeted to modulate neurological symptoms resulting from spinal air embolism.

Kakinohana, Osamu; Scadeng, Miriam; Corleto, Jose A.; Sevc, Juraj; Lukacova, Nadezda; Marsala, Martin



Mid- and Long-Term Results of Endovascular Treatment in Thoracic Aorta Blunt Trauma  

PubMed Central

Study Aim. Evaluation of results in blunt injury of the thoracic aorta (BAI) endovascular treatment. Materials and Methods. Sixteen patients were treated for BAI. Thirteen patients had associated polytrauma, 4 of these had a serious hypotensive status and 4 had an hemothorax. In the remaining 3, two had a post-traumatic false aneurysm of the isthmus and 1 had a segmental dissection. In those 13 patients a periaortic hematoma was associated to hemothorax in 4. All patients were submitted to an endovascular treatment, in two cases the subclavian artery ostium was intentionally covered. Results. One patient died for disseminated intravascular coagulation. No paraplegia was recorded. No ischemic complications were observed. A type I endoleak was treated by an adjunctive cuff. During the followup (1–9 years) 3 patients were lost. A good patency and no endoleaks were observed in all cases. One infolding and 1 migration of the endografts were corrected by an adjunctive cuff. Conclusion. The medium and long term results of the endovascular treatment of BAI are encouraging with a low incidence rate of mortality and complications. More suitable endo-suite and endografts could be a crucial point for the further improvement of these results.

Irace, Luigi; Laurito, Antonella; Venosi, Salvatore; Irace, Francesco Giosue; Malay, Alban; Gossetti, Bruno; Bresadola, Luciano; Gattuso, Roberto; Martinelli, Ombretta



An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome.  


Mechanisms coordinating endosomal degradation and recycling are poorly understood, as are the cellular roles of microtubule (MT) severing. We show that cells lacking the MT-severing protein spastin had increased tubulation of and defective receptor sorting through endosomal tubular recycling compartments. Spastin required the ability to sever MTs and to interact with ESCRT-III (a complex controlling cargo degradation) proteins to regulate endosomal tubulation. Cells lacking IST1 (increased sodium tolerance 1), an endosomal sorting complex required for transport (ESCRT) component to which spastin binds, also had increased endosomal tubulation. Our results suggest that inclusion of IST1 into the ESCRT complex allows recruitment of spastin to promote fission of recycling tubules from the endosome. Thus, we reveal a novel cellular role for MT severing and identify a mechanism by which endosomal recycling can be coordinated with the degradative machinery. Spastin is mutated in the axonopathy hereditary spastic paraplegia. Zebrafish spinal motor axons depleted of spastin or IST1 also had abnormal endosomal tubulation, so we propose this phenotype is important for axonal degeneration. PMID:23897888

Allison, Rachel; Lumb, Jennifer H; Fassier, Coralie; Connell, James W; Ten Martin, Daniel; Seaman, Matthew N J; Hazan, Jamilé; Reid, Evan



Development and Treatments of Inflammatory Cells and Cytokines in Spinal Cord Ischemia-Reperfusion Injury  

PubMed Central

During aortic surgery, interruption of spinal cord blood flow might cause spinal cord ischemia-reperfusion injury (IRI). The incidence of spinal cord IRI after aortic surgery is up to 28%, and patients with spinal cord IRI might suffer from postoperative paraplegia or paraparesis. Spinal cord IRI includes two phases. The immediate spinal cord injury is related to acute ischemia. And the delayed spinal cord injury involves both ischemic cellular death and reperfusion injury. Inflammation is a subsequent event of spinal cord ischemia and possibly a major contributor to spinal cord IRI. However, the development of inflammatory mediators is incompletely demonstrated. And treatments available for inflammation in spinal cord IRI are insufficient. Improved understanding about spinal cord IRI and the development of inflammatory cells and cytokines in this process will provide novel therapeutic strategies for spinal cord IRI. Inflammatory cytokines (e.g., TNF-? and IL-1) may play an important role in spinal cord IRI. For treatment of several intractable autoimmune diseases (e.g., rheumatoid arthritis), where inflammatory cytokines are involved in disease progression, anti-inflammatory cytokine antagonist is now available. Hence, there is great potential of anti-inflammatory cytokine antagonist for therapeutic use of spinal cord IRI. We here review the mediators and several possibilities of treatment in spinal cord IRI.

Zhu, Ping; Li, Jia-xin; Fujino, Masayuki; Zhuang, Jian; Li, Xiao-Kang



Tropical spastic paraparesis in Kerala.  


Tropical Spastic Paraparesis (TSP) is an uncommon myeloneuropathy with an insular geographic distribution. In 1985, Human T-lymphotropic virus type I (HTLV-1) was reported to be a possible etiological factor. We did an epidemiological, clinical and virological study of 25 cases of TSP. They were predominantly young adult men, whose duration of illness ranged from 6 months to 15 years. Difficulty in walking, stiffness of legs and paraesthesia of legs were the main symptoms. None had tuberculosis, syphilis, malnutrition or lathyrism. Pyramidal signs of the lower limbs, upper limbs, posterior column involvement and spinothalamic tract dysfunction were the common signs. Laboratory findings and cerebrospinal fluid analysis were normal in most. Myelograms or MRI were normal in all. Only 1 case repeatedly tested positive for HTLV-1 antibodies. None of his relatives had clinical or virological evidence of TSP or HTLV-1 infection. Based on our study, we could not link HTLV-I infection to TSP in Indian cases. Virological testing for HTLV-I infection by polymerase chain reaction may be a better tool to reveal such an association. Our cases were similar to seronegative spinal spastic paraplegia. A related new retrovirus or an altered immune response to HTLV-1 due to environmental or dietary factors are possibilities which require further exploration. PMID:14742930

Oomman, A; Madhusoodanan, M



Fatal Renal Failure in a Spinal Cord Injury Patient with Vesicoureteric Reflux Who Underwent Repeated Ureteric Reimplantations Unsuccessfully: Treatment Should Focus on Abolition of High Intravesical Pressures rather than Surgical Correction of Reflux  

PubMed Central

A 29-year-old man developed paraplegia at T-10 level due to road traffic accident in 1972. Both kidneys were normal and showed good function on intravenous urography. Division of external urethral sphincter was performed in 1973. In 1974, cystogram showed retrograde filling of left renal tract, which was hydronephrotic. Left ureteric reimplantation was performed. Following surgery, cystogram revealed marked retrograde filling of left renal tract as before. Penile sheath drainage was continued. In 1981, intravenous urography revealed bilateral severe hydronephrosis. Left ureteric reimplantation was performed again in 1983. Blood pressure was 220/140?mm?Hg; this patient was prescribed atenolol. Cystogram showed gross left vesicoureteral reflux. Intermittent catheterisation was commenced in 2001. In 2007, proteinuria was 860 mg/day. This patient developed progressive renal failure and expired in 2012. In a spinal cord injury patient with vesicoureteral reflux, the treatment should focus on abolition of high intravesical pressures rather than surgical correction of vesicoureteric reflux. Detrusor hyperactivity and high intravesical pressures are the basic causes for vesicoureteral reflux in spinal cord injury patients. Therefore, it is important to manage spinal cord injury patients with neuropathic bladder by intermittent catheterisations along with antimuscarinic drug therapy in order to abolish high detrusor pressures and prevent vesicoureteral reflux. Angiotensin-converting enzyme inhibitors or angiotensin-receptor-blocking agents should be prescribed even in the absence of hypertension when a spinal cord injury patient develops vesicoureteral reflux and proteinuria.

Vaidyanathan, Subramanian; Soni, Bakul; Abraham Abraham, Kottarathil; Hughes, Peter; Singh, Gurpreet



[Case of chronic progressive encephalo-myelo-radiculo-neuropathy].  


A 65-year-old man developed urinary impairment and gait disturbance over a period of four months. On admission, neurological examinations revealed paraplegia, decreased deep tendon reflexes in the extremities, bilateral positive Babinski and Chaddock signs, superficial and deep sensory disturbances and neurogenic bladder. Cerebrospinal fluid examination disclosed a total cell count of 70/mm3, and protein of 76 mg/dl. Nerve conduction studies and somatosensory evoked potential suggested demyelinating neuropathy and myelopathy. Brain MRI revealed irregular-shaped white matter lesions distributed over the bilateral cerebral hemispheres and the brain stem. In addition spinal MRI disclosed long spinal cord lesions disseminated from the higher cervical to the lower thoracic spine. A 1 microm-thick epon-embedded section and teased fiber preparations of a biopsied sural nerve showed segmental demyelination and remyelination. Treatments using intravenous methylprednisolone and IVIg were both effective. The positive responses to immunological treatment, along with the findings, strongly suggested that the demyelinating lesions occurred in both the central and peripheral nervous systems. We regarded this case as one of chronic progression of Encephalo-myelo-radiculo-neuropathy. PMID:20535982

Kutoku, Yumiko; Inoue, Ken; Murakami, Tatsufumi; Sunada, Yoshihide



The Collateral Network Concept: A Reassessment of the Anatomy of Spinal Cord Perfusion  

PubMed Central

OBJECTIVE Prevention of paraplegia following repair of thoracoabdominal aortic aneurysms (TAAA) requires understanding the anatomy and physiology of the blood supply to the spinal cord. Recent laboratory studies and clinical observations suggest that a robust collateral network must exist to explain preservation of spinal cord perfusion when segmental vessels are interrupted. An anatomical study was undertaken. METHODS Twelve juvenile Yorkshire pigs underwent aortic cannulation and infusion of a low-viscosity acrylic resin at physiological pressures. After curing of the resin and digestion of all organic tissue, the anatomy of the blood supply to the spinal cord was studied grossly and using light and electron microscopy. RESULTS All vascular structures ? 8?m in diameter were preserved. Thoracic and lumbar segmental arteries (SAs) give rise not only to the anterior spinal artery (ASA), but to an extensive paraspinous network feeding the erector spinae, iliopsoas, and associated muscles. The ASA, mean diameter 134±20 ?m, is connected at multiple points to repetitive circular epidural arteries with mean diameters of 150±26 ?m. The capacity of the paraspinous muscular network is 25-fold the capacity of the circular epidural arterial network and ASA combined. Extensive arterial collateralization is apparent between the intraspinal and paraspinous networks, and within each network. Only 75% of all SAs provide direct ASA-supplying branches. CONCLUSIONS The ASA is only one component of an extensive paraspinous and intraspinal collateral vascular network. This network provides an anatomic explanation of the physiological resiliency of spinal cord perfusion when SAs are sacrificed during TAAA repair.

Etz, Christian D.; Kari, Fabian A.; Mueller, Christoph S.; Silovitz, Daniel; Brenner, Robert; Lin, Hung-Mo; Griepp, Randall B.




PubMed Central

Background A comprehensive strategy to prevent paraplegia after open surgical or endovascular repair of thoracoabdominal aortic aneurysms (TAAA) requires a thorough understanding of the response of the collateral network (CN) to extensive segmental artery (SA) sacrifice. Methods 10 Yorkshire pigs underwent perfusion with a low-viscosity acrylic resin. Using cardiopulmonary bypass, two animals each were perfused in the native state, immediately, six hours, 24h and five days (5d) after sacrifice of all SAs (T4-L5). After digestion of surrounding tissue, the vascular cast of the CN underwent analysis of arterial and arteriolar diameters and the density and spatial orientation of the vasculature, using light and scanning electron microscopy. Results Within 24 hours, the diameter of the anterior spinal artery (ASA) had increased significantly, and within 5 days the ASA and the epidural arterial network had enlarged in diameter by 80-100% (p <.0001). Also by 5 days, the density of the intramuscular paraspinous vessels had increased (p<.0001), a shift of size distribution from small to larger arterioles was seen (p=.0002), and a significant realignment of arterioles parallel to the spinal cord had occurred (p=.0005). Conclusions Within 5d after SA occlusion, profound anatomical alterations in the intraspinal and paraspinous arteries and arterioles occur, providing the anatomical substrate for preservation of spinal cord blood flow via collateral pathways.

Etz, Christian D; Kari, Fabian A.; Mueller, Christoph S; Brenner, Robert; Lin, Hung-Mo; Griepp, Randall B



Spinal cord injuries due to falls from hunting tree stands in Oklahoma, 1988-1999.  


Serious injuries resulting in paralysis or death have been shown to occur to hunters who have sustained falls from tree stands. A total of sixteen spinal cord injuries or deaths among Oklahoma hunters falling from tree stands were reported between 1987 and 1999. The mean height of the falls was 16.4 feet. Three (18.8%) of the cases were related to substance use. None of the patients were using a safety restraint. Nearly 90% of the injuries resulted in paraplegia/paresis; two (12.5%) of the injuries resulted in death. Forty-four percent of the spinal injuries occurred at the thoraco-lumbor junction (T12 or L1). Burst fractures were the most common fracture pattern. Hospitalizations averaged 19.6 days (range 3 to 73 days) and eight (50%) were discharged to inpatient rehabilitation facilities. Falls from tree stands can result in serious injuries or death. Hunter education and the use of safety harnesses for prevention of injuries related to tree stands are paramount. PMID:15141770

Stubbs, Scott N; Pasque, Charles B; Brown, Sheryll; Mallonee, Sue



Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).  


Our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. In addition to the core syndromes of pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2), several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). In parallel, the clinical and pathological spectrum has broadened and new age-dependent presentations are being described. There is also growing recognition of overlap between the different NBIA disorders and other diseases including spastic paraplegias, leukodystrophies and neuronal ceroid lipofuscinosis which makes a diagnosis solely based on clinical findings challenging. Autopsy examination of genetically-confirmed cases demonstrates Lewy bodies, neurofibrillary tangles, and other hallmarks of apparently distinct neurodegenerative disorders such as Parkinson's disease (PD) and Alzheimer's disease. Until we disentangle the various NBIA genes and their related pathways and move towards pathogenesis-targeted therapies, the treatment remains symptomatic. Our aim here is to provide an overview of historical developments of research into iron metabolism and its relevance in neurodegenerative disorders. We then focus on clinical features and investigational findings in NBIA and summarize therapeutic results reviewing reports of iron chelation therapy and deep brain stimulation. We also discuss genetic and molecular underpinnings of the NBIA syndromes. PMID:23814539

Schneider, Susanne A; Dusek, Petr; Hardy, John; Westenberger, Ana; Jankovic, Joseph; Bhatia, Kailash P



Rare causes of dystonia parkinsonism.  


The list of genetic causes of syndromes of dystonia parkinsonism grows constantly. As a consequence, the diagnosis becomes more and more challenging for the clinician. Here, we summarize the important causes of dystonia parkinsonism including autosomal-dominant, recessive, and x-linked forms. We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter. They have in common that in all these syndromes there may be a combination of dystonic and parkinsonian features, which may be complicated by pyramidal tract involvement. The aim of this review is to familiarize the clinician with the phenotypes of these disorders. PMID:20694531

Schneider, Susanne A; Bhatia, Kailash P



Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA).  


Regulation of iron metabolism is crucial: both iron deficiency and iron overload can cause disease. In recent years, our understanding of the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) continues to grow considerably. These are characterized by excessive iron deposition in the brain, mainly the basal ganglia. Pantothenate kinase-associated neurodegeneration (PKAN, NBIA1) and PLA2G6-associated neurodegeneration (PLAN, NBIA2) are the core syndromes, but several other genetic causes have been identified (including FA2H, C19orf12, ATP13A2, CP and FTL). These conditions show a wide clinical and pathological spectrum, with clinical overlap between the different NBIA disorders and other diseases including spastic paraplegias, leukodystrophies, and neuronal ceroid lipofuscinosis. Lewy body pathology was confirmed in some clinical subtypes (C19orf12-associated neurodegeneration and PLAN). Research aims at disentangling the various NBIA genes and their related pathways to move towards pathogenesis-targeted therapies. Until then treatment remains symptomatic. Here we will introduce the group of NBIA syndromes and review the main clinical features and investigational findings. PMID:23212724

Schneider, Susanne A; Bhatia, Kailash P



Reliability of peak physiological responses during wheelchair ergometry in persons with spinal cord injury.  


This study examined the test-retest reliability of peak physiological responses during wheelchair ergometry (WE) in individuals with spinal cord injury (SCI). Seven wheelchair dependent subjects, two with paraplegia (T10-11 and T11-12 lesions) and five with quadriplegia (all with C6-7 lesions), were given two incremental exercise tests to volitional fatigue on separate occasions within a one-week period. Each subject wheeled his or her personal wheelchair, which was mounted on a set of frictionless rollers with side-mounted flywheels. Metabolic and cardiorespiratory responses were continuously monitored by means of an automated metabolic measurement cart interfaced with an electrocardiograph. Statistical analysis revealed no significant differences (p greater than .05) between the mean values of the two test trials for six peak values. Reliability coefficients (p less than .01) were: oxygen uptake (0.98), heart rate (0.97), ventilation volume (0.96), respiratory exchange ratio (0.91), oxygen pulse (0.96), and ventilatory equivalent for oxygen (0.88). The investigators concluded that these six physiological responses in subjects with SCI undergoing WE are highly reliable, and that these variables can be used in the objective prescription, monitoring, and evaluation of exercise rehabilitation programs for individuals with SCI. PMID:2059132

Bhambhani, Y N; Eriksson, P; Steadward, R D



Intradural extramedullary primary hydatid cyst of the spine: a case report and review of literature.  


Primary intradural extramedullary hydatid cyst is a rare form of parasitic infection, causing focal neurological signs, commonly observed in sheep-raising areas of the world. We report a rare case of intradural, extramedullary spinal cyst, which we had misdiagnosis in the first surgery, because of rarity of the case. A 55-year-old man presented to our hospital in August 2008. He was admitted to our clinic because of lumbar pain of increasing severity and progressive difficulty with walking and stiffness of both lower limbs, which had lasted for 1 month. On the basis of imaging results, arachnoid cyst of the lumbar spine was diagnosed. Due to rapid progression of the patient's symptoms toward spastic paraplegia, he underwent an emergency surgical decompression procedure. The patient underwent exploratory surgery using a posterior approach. A L1-L2 laminectomy was performed. After opening the dura, an intradural extramedullary cystic mass was determined. The surgical specimen measured 6 × 2 cm and was described as a whitish, pearl-like, semitranslucent, cystic material, which was thought to be parasitic. Surgery has to be followed by albendazole therapy. PMID:22706667

Lotfinia, Iraj; Sayyahmelli, Sima; Mahdkhah, Ata; Shoja, M M



Intramedullary spinal cord metastasis of choriocarcinoma.  


The authors describe a case of choriocarcinoma that metastasized to the cerebral cortex, vertebral body, and intramedullary spinal cord. A 21-year-old woman presented with sudden headache, vomiting and a visual field defect. Brain computed tomography and magnetic resonance examinations revealed an intracranial hemorrhage in the left temporo-parietal lobe and two enhancing nodules in the left temporal and right frontal lobe. After several days, the size of the hemorrhage increased, and a new hemorrhage was identified in the right frontal lobe. The hematoma and enhancing mass in the left temporo-parietal lobe were surgically removed. Choriocarcinoma was diagnosed after histological examination. At 6 days after the operation, her consciousness had worsened and she was in a state of stupor. The size of the hematoma in the right frontal lobe was enlarged. We performed an emergency operation to remove the hematoma and enhancing mass. Her mental status recovered slowly. Two months thereafter, she complained of paraplegia with sensory loss below the nipples. Whole spine magnetic resonance imaging revealed a well-enhancing mass in the thoracic intramedullary spinal cord and L2 vertebral body. Despite chemotherapy and radiotherapy, the patient died 13 months after the diagnosis. PMID:22639709

Ko, Jun Kyeung; Cha, Seung Heon; Lee, Jung Hwan; Choi, Chang Hwa



[Polyostotic fibrous dysplasia of the thoracic spine. A case study and review of the literature].  


Polyostotic fibrous dysplasia of the thoracic spine is extremely rare and considered a benign disease. We report the case of a 46-year-old woman admitted to the emergency department for subacute paraplegia. The spinal X-ray showed a spontaneous fracture at the T4-T5 level. The CT scan revealed a tumor infiltration of the vertebral body responsible for lysis. Spinal MRI confirmed the neoplasia also located in the epidural space with spinal cord compression. The patient underwent an emergency laminectomy associated with transpedicular screw fixation between the T2 and T6 levels. At 2 months, she had evolved to a normal gait. In the second session, a transthoracic approach was used for a bone-graft-assisted fusion procedure to achieve long-term stabilization. At 4 years, the bone fusion was excellent and the patient was able to resume socioprofessional activities. The diagnosis of fibrous dysplasia is usually made histologically on surgical biopsy but MRI and CT scan sometimes provide a preliminary indication. Although a consensus for management of this disease has not been achieved, the authors recommend radical removal of all involved tissues accompanied by internal fixation and bone-graft-assisted fusion. PMID:19577779

Ould Slimane, M; Foulongne, E; Derrey, S; Fréger, P; Proust, F



A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).  

PubMed Central

The L1 cell adhesion molecule (L1CAM) is a neuronal gene involved in the development of the nervous system. Mutations in L1CAM are known to cause several clinically overlapping X linked mental retardation conditions: X linked hydrocephalus (HSAS), MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type I (SPG1), and X linked agenesis of the corpus callosum (ACC). In an analysis of a family with HSAS, we identified a C-->T transition (C924T) in exon 8 that was initially thought to have no effect on the protein sequence as the alteration affected the third base of a codon (G308G). Extensive analysis of the other 27 exons showed no other alteration. A review of the sequence surrounding position 924 indicated that the C-->T transition created a potential 5' splice site consensus sequence, which would result in an in frame deletion of 69 bp from exon 8 and 23 amino acids of the L1CAM protein. RT-PCR of the RNA from an affected male fetus and subsequent sequence analysis confirmed the use of the new splice site. This is the first report of a silent nucleotide substitution in L1CAM giving rise to an alteration at the protein level. Furthermore, it shows that as mutation analysis plays an ever more important role in human genetics, the identification of a synonymous base change should not be routinely discounted as a neutral polymorphism. Images

Du, Y Z; Dickerson, C; Aylsworth, A S; Schwartz, C E



Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish  

PubMed Central

SUMMARY Mutations in patatin-like phospholipase domain containing 6 (PNPLA6), also known as neuropathy target esterase (NTE) or SPG39, cause hereditary spastic paraplegia (HSP). Although studies on animal models, including mice and Drosophila, have extended our understanding of PNPLA6, its roles in neural development and in HSP are not clearly understood. Here, we describe the generation of a vertebrate model of PNPLA6 insufficiency using morpholino oligonucleotide knockdown in zebrafish (Danio rerio). Pnpla6 knockdown resulted in developmental abnormalities and motor neuron defects, including axon truncation and branching. The phenotypes in pnpla6 knockdown morphants were rescued by the introduction of wild-type, but not mutant, human PNPLA6 mRNA. Our results also revealed the involvement of BMP signaling in pnpla6 knockdown phenotypes. Taken together, these results demonstrate an important role of PNPLA6 in motor neuron development and implicate overexpression of BMP signaling as a possible mechanism underlying the developmental defects in pnpla6 morphants.

Song, Yang; Wang, Molin; Mao, Fei; Shao, Ming; Zhao, Baochang; Song, Zhen; Shao, Changshun; Gong, Yaoqin



Alsin and the molecular pathways of amyotrophic lateral sclerosis.  


Autosomal recessive mutations in the ALS2 gene lead to a clinical spectrum of motor dysfunction including juvenile onset amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis, and hereditary spastic paraplegia. The 184-kDa alsin protein, encoded by the full-length ALS2 gene, contains three different guanine-nucleotide-exchange factor-like domains, which may play a role in the etiology of the disease. Multiple in vitro biochemical and cell biology assays suggest that alsin dysfunction affects endosome trafficking through a Rab5 small GTPase family-mediated mechanism. Four ALS2-deficient mouse models have been generated by different groups and used to study the behavioral and pathological impact of alsin deficiency. These mouse models largely fail to recapitulate hallmarks of motor neuron disease, but the subtle deficits that are observed in behavior and pathology have aided in our understanding of the relationship between alsin and motor dysfunction. In this review, we summarize recent clinical and molecular reports regarding alsin and attempt to place these results within the larger context of motor neuron disease. PMID:17955197

Chandran, Jayanth; Ding, Jinhui; Cai, Huaibin



ALS2/alsin knockout mice and motor neuron diseases.  


Autosomal recessive mutations in the ALS2 gene have been linked to juvenile-onset amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis and juvenile-onset ascending hereditary spastic paraplegia. Except for two recently identified missense mutations, all other mutations in the ALS2 gene lead to a premature stop codon and likely abrogate all the potential functions of alsin, the protein encoded by the ALS2 gene. To study the pathologic mechanisms of ALS2 deficiency, four different lines of ALS2 knockout (ALS2(-/-)) mice have been generated by independent groups. The loss of ALS2/alsin does not have a drastic effect on the survival or function of motor neurons in mice. However, subtle deficits observed in the behavior and pathology of these mice have aided in our understanding of the relationship between alsin and motor neuron dysfunction. In this review, we summarize and reconcile major findings of ALS2(-/-) mice and attempt to place these results within the larger context of modeling recessive movement disorders in mice. PMID:18714162

Cai, Huaibin; Shim, Hoon; Lai, Chen; Xie, Chengsong; Lin, Xian; Yang, Wan Jou; Chandran, Jayanth



Field hospital treatment of blast wounds of the musculoskeletal system during the Yugoslav civil war.  


The spectrum of wounding and treatment of forty-one patients with musculoskeletal blast injuries at a U.S. military field hospital in the former Yugoslavia was reviewed. Patients underwent wound exploration, irrigation, debridement, broad-spectrum antibiotic therapy, early fracture stabilization, and appropriate reconstructive surgery. Four patients developed wound infections. Two patients died as a result of their injuries (overall mortality 5 percent). There were three below-knee amputations and five other amputations (above-knee, ankle, midtarsal, partial forefoot, and finger). Three patients sustained lumbar burst fractures from mines that exploded under their vehicles, resulting in paraplegia in one case. Our patients underwent 112 surgical procedures, an average of 2.1 per patient. Twenty-two patients (54 percent) had other injuries or conditions in addition to their orthopaedic wounds. There were wide variations in the bone and soft tissue injuries caused by detonating ordnance, and the tissue damage was qualitatively different from that caused by gunshot wounds. Early debridement, leaving wounds open, and treatment with broad-spectrum antibiotics were important factors in wound healing to allow subsequent successful reconstructive surgery in an austere field setting. PMID:10898201

Covey, D C; Lurate, R B; Hatton, C T



Hydronephrosis and renal failure following inadequate management of neuropathic bladder in a patient with spinal cord injury: Case report of a preventable complication  

PubMed Central

Background Condom catheters are indicated in spinal cord injury patients in whom intravesical pressures during storage and voiding are safe. Unmonitored use of penile sheath drainage can lead to serious complications. Case report A 32-year old, male person, sustained complete paraplegia at T-11 level in 1985. He had been using condom catheter. Eleven years after sustaining spinal injury, intravenous urography showed no radio-opaque calculus, normal appearances of kidneys, ureters and bladder. Blood urea and Creatinine were within reference range. A year later, urodynamics revealed detrusor pressure of 100?cm water when detrusor contraction was initiated by suprapubic tapping. This patient was advised intermittent catheterisation and take anti-cholinergic drug orally; but, he wished to continue penile sheath drainage. Nine years later, this patient developed bilateral hydronephrosis and renal failure. Indwelling urethral catheter drainage was established. Five months later, ultrasound examination of urinary tract revealed normal kidneys with no evidence of hydronephrosis. Conclusion Spinal cord injury patients with high intravesical pressure should not have penile sheath drainage as these patients are at risk for developing hydronephrosis and renal failure. Intermittent catheterisation along with antimuscarinic drug should be the preferred option for managing neuropathic bladder.



Endovascular Treatment of Descending Thoracic Aortic Aneurysms with the EndoFit Stent-Graft  

SciTech Connect

Objective. To evaluate the mid-term feasibility, efficacy, and durability of descending thoracic aortic aneurysm (DTAA) exclusion using the EndoFit device (LeMaitre Vascular). Methods. Twenty-three (23) men (mean age 66 years) with a DTAA were admitted to our department for endovascular repair (21 were ASA III+ and 2 refused open repair) from January 2003 to July 2005. Results. Complete aneurysm exclusion was feasible in all subjects (100% technical success). The median follow-up was 18 months (range 8-40 months). A single stent-graft was used in 6 cases. The deployment of a second stent-graft was required in the remaining 17 patients. All endografts were attached proximally, beyond the left subclavian artery, leaving the aortic arch branches intact. No procedure-related deaths have occurred. A distal type I endoleak was detected in 2 cases on the 1 month follow-up CT scan, and was repaired with reintervention and deployment of an extension graft. A nonfatal acute myocardial infarction occurred in 1 patient in the sixth postoperative month. Graft migration, graft infection, paraplegia, cerebral or distal embolization, renal impairment or any other major complications were not observed. Conclusion. The treatment of DTAAs using the EndoFit stent-graft is technically feasible. Mid-term results in this series are promising.

Saratzis, N.; Saratzis, Athanasios, E-mail:; Melas, N.; Ginis, G.; Lioupis, A.; Lykopoulos, D.; Lazaridis, J.; Kiskinis, Dimitrios [Aristotle University of Thessaloniki Papageorgiou General Hospital, Department of Surgery (Greece)



Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.  


The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative diseases characterized by selective axonal loss in the corticospinal tracts and dorsal columns. Although numerous mechanisms involving defective subcellular transportation, mitochondrial malfunction, and increased oxidative stress have been proposed, the pathogenic basis underlying the neuronal loss is unknown. We have performed linkage analysis to refine the extent of the SPG5 disease locus and conducted sequence analysis of the genes located within this region. This identified sequence alterations in the cytochrome P450-7B1 (CYP7B1) associated with this pure form of HSP. In the liver, CYP7B1 offers an alternative pathway for cholesterol degradation and also provides the primary metabolic route for the modification of dehydroepiandrosterone neurosteroids in the brain. These findings provide the first direct evidence of a pivotal role of altered cholesterol metabolism in the pathogenesis of motor-neuron degenerative disease and identify a potential for therapeutic intervention in this form of HSP. PMID:18252231

Tsaousidou, Maria K; Ouahchi, Karim; Warner, Tom T; Yang, Yi; Simpson, Michael A; Laing, Nigel G; Wilkinson, Philip A; Madrid, Ricardo E; Patel, Heema; Hentati, Faycal; Patton, Michael A; Hentati, Afif; Lamont, Philippa J; Siddique, Teepu; Crosby, Andrew H



Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration  

PubMed Central

The hereditary spastic paraplegias (HSPs) are a genetically and clinically heterogeneous group of upper-motor-neuron degenerative diseases characterized by selective axonal loss in the corticospinal tracts and dorsal columns. Although numerous mechanisms involving defective subcellular transportation, mitochondrial malfunction, and increased oxidative stress have been proposed, the pathogenic basis underlying the neuronal loss is unknown. We have performed linkage analysis to refine the extent of the SPG5 disease locus and conducted sequence analysis of the genes located within this region. This identified sequence alterations in the cytochrome P450-7B1 (CYP7B1) associated with this pure form of HSP. In the liver, CYP7B1 offers an alternative pathway for cholesterol degradation and also provides the primary metabolic route for the modification of dehydroepiandrosterone neurosteroids in the brain. These findings provide the first direct evidence of a pivotal role of altered cholesterol metabolism in the pathogenesis of motor-neuron degenerative disease and identify a potential for therapeutic intervention in this form of HSP.

Tsaousidou, Maria K.; Ouahchi, Karim; Warner, Tom T.; Yang, Yi; Simpson, Michael A.; Laing, Nigel G.; Wilkinson, Philip A.; Madrid, Ricardo E.; Patel, Heema; Hentati, Faycal; Patton, Michael A.; Hentati, Afif; Lamont, Philippa J.; Siddique, Teepu; Crosby, Andrew H.



Regaining health and wellbeing after traumatic spinal cord injury.  


Objective: Traumatic spinal cord injury is typically a devastating event, leading to permanent physical disability. Despite the severity of the condition, many persons with traumatic spinal cord injury manage to lead both active and independent lives. The aim of this study was to investigate the experience of health and wellbeing of persons living with a traumatic spinal cord injury for at least 20 years. Design and methods: A qualitative design was used. Data was analysed using a phenomenological-hermeneutical method. Rich narratives were obtained from 14 persons with paraplegia due to traumatic spinal cord injury sustained at least 20 years ago. Results: The key finding was that health and wellbeing were attained when persons were able to perceive themselves as being "normal" in everyday relationships and circumstances. The normalization process involved learning to negotiate and/or prevent potentially embarrassing situations by acting in a "parallel world", covertly "behind the scenes". Conclusion: The subjective experience of wellbeing and health after traumatic spinal cord injury depends upon the ability to prevent or resolve potentially embarrassing situations without this being noticed by others. Performing this work "behind the scenes", enables persons with traumatic spinal cord injury to interact smoothly with others and thereby be perceived as normal, despite substantial disability. PMID:24048205

Suarez, Nivia Carballeira; Levi, Richard; Bullington, Jennifer



Olivopontocerebellar atrophy: toward a better nosological definition.  


Olivopontocerebellar atrophy (OPCA) is a pathological label implying not only olivopontocerebellar changes, but also cases with more widespread lesions involving the CNS. This polytopic pathological background accounts for clinical complexity, essentially defined as cerebellar-plus syndrome. The term "OPCA" is applicable to an increasing number of neurodegenerative syndromes, including autosomal dominant ataxia, complicated spastic paraplegia, multiple-system atrophy (MSA), and many cases of idiopathic late-onset cerebellar ataxia (ILOCA), some of whom also turn out to have MSA. OPCA may also be part of the pathological hallmark of other disorders, such as prion disorders, mitochondrial encephalomyopathies, and hereditary metabolic diseases. Sporadic OPCA and ILOCA with cerebellar-plus presentation and neuroimaging evidence of brainstem and cerebellar atrophy may represent interchangeable eponyms. Just a quarter of such cases evolve to MSA within 5 years of the onset of symptoms. Therefore, the assumption that MSA and sporadic OPCA necessarily are one and the same disease is no longer tenable. Our review suggests that the label "OPCA" is useful to designate a clinicopathological syndrome that has a variety of etiologies carrying a poor prognosis, particularly if associated with autonomic failure as occurs in MSA. PMID:16874757

Berciano, José; Boesch, Sylvia; Pérez-Ramos, José M; Wenning, Gregor K



Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.  


Autosomal dominant spinocerebellar ataxias (SCAs) are genetically heterogeneous neurological disorders characterized by cerebellar dysfunction mostly due to Purkinje cell degeneration. Here we show that AFG3L2 mutations cause SCA type 28. Along with paraplegin, which causes recessive spastic paraplegia, AFG3L2 is a component of the conserved m-AAA metalloprotease complex involved in the maintenance of the mitochondrial proteome. We identified heterozygous missense mutations in five unrelated SCA families and found that AFG3L2 is highly and selectively expressed in human cerebellar Purkinje cells. m-AAA-deficient yeast cells expressing human mutated AFG3L2 homocomplex show respiratory deficiency, proteolytic impairment and deficiency of respiratory chain complex IV. Structure homology modeling indicates that the mutations may affect AFG3L2 substrate handling. This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration. PMID:20208537

Di Bella, Daniela; Lazzaro, Federico; Brusco, Alfredo; Plumari, Massimo; Battaglia, Giorgio; Pastore, Annalisa; Finardi, Adele; Cagnoli, Claudia; Tempia, Filippo; Frontali, Marina; Veneziano, Liana; Sacco, Tiziana; Boda, Enrica; Brussino, Alessandro; Bonn, Florian; Castellotti, Barbara; Baratta, Silvia; Mariotti, Caterina; Gellera, Cinzia; Fracasso, Valentina; Magri, Stefania; Langer, Thomas; Plevani, Paolo; Di Donato, Stefano; Muzi-Falconi, Marco; Taroni, Franco



Alleviation of seipinopathy-related ER stress by triglyceride storage.  


Mutations affecting the N-glycosylation site in Berardinelli-Seip lipodystrophy (BSCL)-associated gene BSCL2/seipin lead to a dominantly inherited spastic paraplegia termed seipinopathy. While the loss of function of seipin leads to severe congenital lipodystrophy, the effects of seipin N-glycosylation mutations on lipid balance in the nervous system are unknown. In this study, we show that expression of seipin N-glycosylation mutant N88S led to decreased triglyceride (TG) content in astrocytoma and motor neuron cell lines. This was corrected by supplementation with exogenous oleic acid. Upon oleic acid loading, seipin N88S protein was relocated from the endoplasmic reticulum (ER) to the surface of lipid droplets and this was paralleled by alleviation of ER stress induced by the mutant protein. This effect was not limited to seipin N88S, as oleic acid loading also reduced tunicamycin-induced ER stress in motor neuron cells. Furthermore, both seipin N88S and tunicamycin-induced ER stress were decreased by inhibiting lipolysis, suggesting that lipid droplets protected neuronal cells from ER stress. In developing zebrafish larvae, seipin N88S expression led to TG imbalance and reduced spontaneous free swimming. Importantly, supplementation with exogenous oleic acid reduced ER stress in the zebrafish head and increased fish motility. We propose that the decreased TG content contributes to the pathology induced by seipin N88S, and that rescuing TG levels may provide a novel therapeutic strategy in seipinopathy. PMID:23250914

Hölttä-Vuori, Maarit; Salo, Veijo T; Ohsaki, Yuki; Suster, Maximiliano L; Ikonen, Elina



Spinal cord infarction remote from maximal compression in a patient with Morquio syndrome.  


Morquio syndrome, or mucopolysaccharidosis type IV, is a rare enzyme deficiency disorder and results in skeletal dysplasia. Odontoid dysplasia is common among affected patients, resulting in atlantoaxial instability and spinal cord compression. Surgical treatments include decompression and prophylactic fusion, during which intraoperative neuromonitoring is important to alert the surgical team to changes in cord function so that they can prevent or mitigate spinal cord injury. This report describes a 16-year-old girl with Morquio syndrome who developed paraplegia due to thoracic spinal cord infarction during foramen magnum and atlantal decompression. This tragic event demonstrates the following: 1) that patients with Morquio syndrome are at risk for ischemic spinal cord injury at levels remote from areas of maximal anatomical compression while under anesthesia in the prone position, possibly due to impaired cardiac output; 2) the significance of absent motor evoked potential responses in the lower limbs with preserved upper-limb responses in an ambulatory patient; 3) the importance of establishing intraoperative neuromonitoring baseline assessments prior to turning patients to the prone position following induction of anesthesia; and 4) the importance of monitoring cardiac output during prone positioning in patients with chest wall deformity. PMID:22656250

Tong, Calvin K W; Chen, James C H; Cochrane, D Douglas



Mid-Term Results After Endovascular Stent-Grafting of Descending Aortic Aneurysms in High-Risk Patients  

SciTech Connect

Purpose. To analyze our experience with endovascular stent-grafting of descending aortic aneurysms in high-risk patients. Methods. Nineteen patients underwent endovascular stent-graft repair of descending aortic aneurysms using the Talent Stent Graft System (Medtronic). All patients were considered high-risk for open surgical repair due to their age, requirement for emergency surgery, and comorbidities. Computed tomography and/or MR tomography were performed at 3, 6 and 12 months postoperatively and thereafter every 12 months. Results. Secondary technical success was 100%. Thirty-day mortality was 5%. Incidence of postoperative stroke and paraplegia were 5% each. One patient required a second stent-graft due to a type I endoleak during the same hospital stay (primary technical success 95%). All patients have been followed for a median of 20 months. No migration, wire fractures or endoleak appeared during follow-up. Conclusion. Endovascular stent-grafting had a low 30-day mortality and morbidity in high-risk patients. One patient developed an aortoesophageal fistula 40 days after stent implantation. Stent-graft repair is a valuable supplement to surgical therapy in high-risk patients.

Brandt, Michael, E-mail:; Walluscheck, Knut P. [University Hospital Schleswig-Holstein, Department of Cardiovascular Surgery (Germany); Jahnke, Thomas [University Hospital Schleswig-Holstein, Department of Diagnostic Radiology (Germany); Attmann, Tim [University Hospital Schleswig-Holstein, Department of Cardiovascular Surgery (Germany); Heller, Martin [University Hospital Schleswig-Holstein, Department of Diagnostic Radiology (Germany); Cremer, Jochen [University Hospital Schleswig-Holstein, Department of Cardiovascular Surgery (Germany); Mueller-Huelsbeck, Stefan [University Hospital Schleswig-Holstein, Department of Diagnostic Radiology (Germany)



The effects of exercise on human articular cartilage  

PubMed Central

The effects of exercise on articular hyaline articular cartilage have traditionally been examined in animal models, but until recently little information has been available on human cartilage. Magnetic resonance imaging now permits cartilage morphology and composition to be analysed quantitatively in vivo. This review briefly describes the methodological background of quantitative cartilage imaging and summarizes work on short-term (deformational behaviour) and long-term (functional adaptation) effects of exercise on human articular cartilage. Current findings suggest that human cartilage deforms very little in vivo during physiological activities and recovers from deformation within 90 min after loading. Whereas cartilage deformation appears to become less with increasing age, sex and physical training status do not seem to affect in vivo deformational behaviour. There is now good evidence that cartilage undergoes some type of atrophy (thinning) under reduced loading conditions, such as with postoperative immobilization and paraplegia. However, increased loading (as encountered by elite athletes) does not appear to be associated with increased average cartilage thickness. Findings in twins, however, suggest a strong genetic contribution to cartilage morphology. Potential reasons for the inability of cartilage to adapt to mechanical stimuli include a lack of evolutionary pressure and a decoupling of mechanical competence and tissue mass.

Eckstein, F; Hudelmaier, M; Putz, R



Huge retroperitoneal germinoma presenting with pathological fracture of the spine.  


Primary retroperitoneal germ cell tumors are extremely rare neoplasms. The most common presenting features are abdominal pain and palpable abdominal masses. Pathological fractures of the spine presenting as bilateral lower leg weakness are exceptionally rare. We describe a 16-year-old girl who developed progressive paraplegia after a minor falling injury. Radiological study demonstrated a huge retroperitoneal tumor with invasion of the T12 vertebral body and spinal canal. A posterior surgical approach was used to perform laminectomy (T12, L1), removal of the intraspinal tumor and internal fixation with transpedical screws (T10, T11 to L2,3), and posterolateral fusion. Postoperative combination chemotherapy for six cycles with cisplatin (100 mg/m2 per day for 1 day every 3 weeks), bleomycin (15 units intravenously weekly for 18 weeks) and etoposide (100 mg/m2 per day for 3 days every 3 weeks) were given and the tumor responded dramatically. The patient had fully recovered without evidence of sequelae or recurrence at 2 years after operation. To the authors' knowledge, this is the first case in which a huge retroperitoneal germinoma presented as pathological fracture of the spine and spinal cord compression. The effectiveness of the postoperative cisplatin-based chemotherapy against this tumor made major retroperitoneal surgery to remove the main tumor mass unnecessary is also demonstrated. PMID:12635842

Tzaan, Wen-Ching; Lin, Chin-Yew; Ng, Shu-Hang; Huang, Jen-Seng



The Fifth Adaptor Protein Complex  

PubMed Central

Adaptor protein (AP) complexes sort cargo into vesicles for transport from one membrane compartment of the cell to another. Four distinct AP complexes have been identified, which are present in most eukaryotes. We report the existence of a fifth AP complex, AP-5. Tagged AP-5 localises to a late endosomal compartment in HeLa cells. AP-5 does not associate with clathrin and is insensitive to brefeldin A. Knocking down AP-5 subunits interferes with the trafficking of the cation-independent mannose 6-phosphate receptor and causes the cell to form swollen endosomal structures with emanating tubules. AP-5 subunits can be found in all five eukaryotic supergroups, but they have been co-ordinately lost in many organisms. Concatenated phylogenetic analysis provides robust resolution, for the first time, into the evolutionary order of emergence of the adaptor subunit families, showing AP-3 as the basal complex, followed by AP-5, AP-4, and AP-1 and AP-2. Thus, AP-5 is an evolutionarily ancient complex, which is involved in endosomal sorting, and which has links with hereditary spastic paraplegia.

Hirst, Jennifer; D. Barlow, Lael; Francisco, Gabriel Casey; Sahlender, Daniela A.; Seaman, Matthew N. J.; Dacks, Joel B.; Robinson, Margaret S.



The role of mitochondria in inherited neurodegenerative diseases.  


In the past decade, the genetic causes underlying familial forms of many neurodegenerative disorders, such as Huntington's disease, Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, Friedreich ataxia, hereditary spastic paraplegia, dominant optic atrophy, Charcot-Marie-Tooth type 2A, neuropathy ataxia and retinitis pigmentosa, and Leber's hereditary optic atrophy have been elucidated. However, the common pathogenic mechanisms of neuronal death are still largely unknown. Recently, mitochondrial dysfunction has emerged as a potential 'lowest common denominator' linking these disorders. In this review, we discuss the body of evidence supporting the role of mitochondria in the pathogenesis of hereditary neurodegenerative diseases. We summarize the principal features of genetic diseases caused by abnormalities of mitochondrial proteins encoded by the mitochondrial or the nuclear genomes. We then address genetic diseases where mutant proteins are localized in multiple cell compartments, including mitochondria and where mitochondrial defects are likely to be directly caused by the mutant proteins. Finally, we describe examples of neurodegenerative disorders where mitochondrial dysfunction may be 'secondary' and probably concomitant with degenerative events in other cell organelles, but may still play an important role in the neuronal decay. Understanding the contribution of mitochondrial dysfunction to neurodegeneration and its pathophysiological basis will significantly impact our ability to develop more effective therapies for neurodegenerative diseases. PMID:16805775

Kwong, Jennifer Q; Beal, M Flint; Manfredi, Giovanni



Endovascular management of thoracic aortic aneurysms.  


The overall survival of patients with thoracic aortic aneurysm (TAA) has improved significantly in the past few years. Endovascular treatment, proposed as an alternative to surgery, has been considered a therapeutic innovation because of its low degree of invasiveness, which allows the treatment of even high-surgical risk patients with limited complications and mortality. A major limitation is the lack of adequate evidence regarding long-term benefit and durability because follow-up has been limited to just a few years even in the largest series. The combination of endovascular exclusion with visceral branch revascularization for the treatment of thoraco-abdominal aortic aneurysms involving the visceral aorta has also been attempted. As an alternative, endografts with branches represent a technological evolution that allows treatment of complex anatomy. Even if only small numbers of patients and short follow-up are available, this technical approach, which has with limited mortality (<10%) and paraplegia rates, to expand endovascular treatment to TAA seems feasible. With improved capability to recognize proper anatomy and select clinical candidates, the choice of endovascular stent-graft placement may offer a strategy to optimize management and improve prognosis. PMID:21290125

Fattori, Rossella; Russo, Vincenzo; Lovato, Luigi; Buttazzi, Katia; Rinaldi, Giovanni



Hybrid repair of Kommerell diverticulum.  


OBJECTIVE: Kommerell diverticulum carries the risk of rupture or dissection if left untreated. Various methods of repair have been described, and options have recently expanded to include the hybrid approach. This study describes hybrid repair techniques for Kommerell diverticulum and assesses outcomes. METHODS: Between 2005 and 2010, a total of 10 patients underwent hybrid repair of Kommerell diverticulum (3 right-sided arches) by elephant trunk with endovascular completion (n = 4), frozen elephant trunk (n = 3), or stent grafting with cervical debranching (n = 3). Mean age at procedure was 57 ± 25.5 years. Subclavian artery revascularization was performed preoperatively (n = 4), intraoperatively (n = 3), or postoperatively (n = 3), either as carotid-to-subclavian bypass (n = 7; n = 3 bilateral) or originating from the ascending aorta (n = 3). Data were obtained from the prospectively collected database and chart review. RESULTS: There was no in-hospital mortality, nor were there any cases of respiratory or renal failure. There were no cases of paraplegia, but there was 1 stroke. Two patients had type 2 endoleaks develop; 1 required subclavian coil embolization. Mean hospital stay was 8.73 ± 4 days. After repair, there were no ruptures, no significant growth, and all patients remain free of symptoms. CONCLUSIONS: Hybrid repair is a safe and effective surgical treatment option for Kommerell diverticulum. Selection of the specific type of intervention is based on patient anatomy and comorbid conditions. PMID:23535153

Idrees, Jahanzaib; Keshavamurthy, Suresh; Subramanian, Sreekumar; Clair, Daniel G; Svensson, Lars G; Roselli, Eric E



Aortic arch replacement for degenerative aneurysms: advances during the last decade.  


During the last decade, treatment paradigm for degenerative aortic arch aneurysms has been changed by a better understanding of the pathophysiology of brain complication and introduction of endovascular technologies. To avoid neurocognitive dysfunction, safe duration of deep hypothermic circulatory arrest is now considered <25 min, and retrograde cerebral perfusion became less frequently used. Selective cerebral perfusion (SCP) is not associated with neurocognitive decline unless profound hypothermia (<20 °C) is used, which may suggest profound hypothermic SCP is not advantageous but may be detrimental. Attempts have been made to use mild to moderate hypothermia during SCP, and safe duration of distal circulatory arrest seems <60 min at 28 °C to avoid ischemic spinal cord injury. Three-vessel perfusion seems advantageous to provide adequate brain and spinal cord protection. To avoid aortogenic brain atheroembolism in the high risk patients, we previously proposed the "isolation" technique, where SCP is established before systemic perfusion. This technique has subsequently been modified to use both axillary and left carotid arteries for systemic arterial return, so that aortogenic emboli may not enter the brain circulation. In the TEVAR (thoracic endovascular aortic repair) era, hybrid operations such as the frozen elephant trunk or TEVAR completion after the elephant trunk are increasingly performed for extensive or distal arch aneurysms. It should be noted, however, that the frozen elephant trunk operation for extensive aneurysms carries an increased risk of paraplegia, and for distal arch aneurysms its outcome is not better than that after the standard open repair in Japan. PMID:23086588

Shiiya, Norihiko



The impact of assuming the primary caregiver role following traumatic spinal cord injury: An interpretative phenomenological analysis of the spouse's experience.  


This study aimed to explore the lived experience of assuming the primary caregiver role in a group of spouses of individuals living with a traumatic spinal cord injury (SCI) (injuries ranged from paraplegia to quadriplegia). Individual in-depth interviews were conducted with 11 participants who were both the spouse and primary caregiver of an individual with a SCI; of these, 10 were female and 1 was male. All interviews were transcribed verbatim and were subjected to interpretative phenomenological analysis (IPA). Here we present three inter-related master themes: 'The emotional impact of SCI'; 'Post-injury shift in relationship dynamics' and 'Impact of caregiving on identity'. Regarding the emotional impact of spinal injury, participants reported an almost instantaneous sense of loss, emptiness and grief during the injured person's rehabilitative period and feelings of anxiety were reported in anticipation of their return to the family home. A distinct change in role from spouse and lover to care provider was reported and this ultimately contributed to relationship change and a loss of former identity. The findings are discussed in relation to extant caregiver literature and recommendations for future caregiver support are highlighted. PMID:20204960

Dickson, Adele; O'Brien, Grainne; Ward, Richard; Allan, David; O'Carroll, Ronan



Simultaneously diagnosed pulmonary thromboembolism and hemopericardium in a man with thoracic spinal cord injury  

PubMed Central

Background Simultaneous pulmonary thromboembolism (PTE) and hemopericardium is a rare but life-threatening condition. As hemopericardium is a contraindication to anticoagulation treatment, it is challenging to handle both conditions together. Objective The objective of the study was to report a rare case of a man with thoracic spinal cord injury presenting with simultaneous PTE and hemopericardium. Design Case report. Subject A 43-year-old man with incomplete T9 paraplegia (American Spinal Injury Association Impairment Scale D) complained of fever one and a half months after spinal cord injury sustained in a fall. Findings During evaluation of fever origin, chest computed tomography and transthoracic echocardiogram revealed simultaneous PTE and hemopericardium. After serial echocardiograms over 2 days demonstrated stability, intravenous heparin, and oral warfarin were administered and his medical status was observed closely. Ultimately, both conditions improved without significant complications. Conclusion We report successful treatment of man with acute spinal cord injury who presented with simultaneously diagnosed PTE and hemopericardium, a rare complication involving two distinct and opposing pathological mechanisms and conflicting treatments.

Han, Jae-Young; Seon, Hyo-Jeong; Choi, In-Sung; Ahn, Youngkeun; Jeong, Myung-Ho; Lee, Sam-Gyu



Neurological issues.  


The case histories of two patients who had had a spinal cord injury (SCI) were selected by the senior author and sent to four experts in the field of SCI. Based on the 1992 American Spinal Injury Association (ASIA) and International Medical Society of Paraplegia (IMSOP) standards, the four participants plus the senior author recorded the motor and sensory scores, the ASIA impairment scale (AIS), the neurological level (NL) and the zone of partial preservation (ZPP). Several minor scoring errors occurred among the participants, especially with motor scores when key muscles could not be tested due to pain, or external immobilization devices. Difficulties with interpretation occurred with the motor levels and the ZPP for the patient with a complete injury. This exercise points to the need for all examiners of SCI patients to thoroughly familiarize themselves with the standards and to use the motor and sensory scores to arrive at a NL and ZPP. They also indicate a need to revise the standards to clarify the determination of sensory levels and how to score muscles whose strength is inhibited by pain. PMID:9160450

Donovan, W H; Brown, D J; Ditunno, J F; Dollfus, P; Frankel, H L



Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing.  


Mutations in the AAA adenosine triphosphatase (ATPase) Spastin (SPG4) cause an autosomal dominant form of hereditary spastic paraplegia, which is a retrograde axonopathy primarily characterized pathologically by the degeneration of long spinal neurons in the corticospinal tracts and the dorsal columns. Using recombinant Spastin, we find that six mutant forms of Spastin, including three disease-associated forms, are severely impaired in ATPase activity. In contrast to a mutation designed to prevent adenosine triphosphate (ATP) binding, an ATP hydrolysis-deficient Spastin mutant predicted to remain kinetically trapped on target proteins decorates microtubules in transfected cells. Analysis of disease-associated missense mutations shows that some more closely resemble the canonical hydrolysis mutant, whereas others resemble the ATP-binding mutant. Using real-time imaging, we show that Spastin severs microtubules when added to permeabilized, cytosol-depleted cells stably expressing GFP-tubulin. Using purified components, we also show that Spastin interacts directly with microtubules and is sufficient for severing. These studies suggest that defects in microtubule severing are a cause of axonal degeneration in human disease. PMID:15716377

Evans, Katia J; Gomes, Edgar R; Reisenweber, Steven M; Gundersen, Gregg G; Lauring, Brett P



A valuable animal model of spinal cord injury to study motor dysfunctions, comorbid conditions, and aging associated diseases.  


Most animal models of contused, compressed or transected spinal cord injury (SCI) require a laminectomy to be performed. However, despite advantages and disadvantages associated with each of these models, the laminectomy itself is generally associated with significant problems including longer surgery and anaesthesia (related post-operative complications), neuropathic pain, spinal instabilities, deformities, lordosis, and biomechanical problems, etc. This review provides an overview of findings obtained mainly from our laboratory that are associated with the development and characterization of a novel murine model of spinal cord transection that does not require a laminectomy. A number of studies successfully conducted with this model provided strong evidence that it constitutes a simple, reliable and reproducible transection model of complete paraplegia which is particularly useful for studies on large cohorts of wild-type or mutant animals - e.g., drug screening studies in vivo or studies aimed at characterizing neuronal and non-neuronal adaptive changes post-trauma. It is highly suitable also for studies aimed at identifying and developing new pharmacological treatments against aging associated comorbid problems and specific SCI-related dysfunctions (e.g., stereotyped motor behaviours such as locomotion, sexual response, defecation and micturition) largely related with 'command centers' located in lumbosacral areas of the spinal cord. PMID:23360275

Rouleau, Pascal; Guertin, Pierre A



Anterior spinal cord decompression for lesions of the thoracic and lumbar spine, techniques, new methods of internal fixation results.  


Seventy-nine patients, 51 with a fresh neurologic deficit, underwent anterior spinal cord decompression, block bone grafting and anterior internal fixation. AO plates were used in nine patients. Dwyer cables in 15, anterior Harrington systems in 20, and solid Hall rods with Dwyer screws in 23. Cases included 13 tumors (six metastatic, five primary malignant, two benign), 15 late kyphotics (13 congenital and two old tuberculosis), 15 pyogenic (nontuberculous) infections, 32 fractures and four thoracic discs. Levels of decompression were from T5 to L5 with the majority (23) at L1. The neurologic deficit improved in 100% of those with incomplete paraplegia, and was graded according to the Frankel classification. None was made worse. Surgical indications were: progressive neurologic deficit in 51 patients, tumors in 13, correction of deformity in 55, failure of infection to respond to conservative measures in 15, cachexia in nine, (many patients had more than one indication). Bone grafts included 11 rib grafts, 24 block iliac grafts with ribs and 44 iliac block grafts. Complications included three nonunions, two common iliac vein lacerations, one death (pulmonary) and two post-thoractomy syndrome. The more recent use of an anterior Harrington distraction system allows for greater correction of kyphotic deformities and more rigid internal fixation which in time allows for early ambulation in a brace. Supplementary posterior fixation is generally no longer necessary except where more than one vertebral body is resected. PMID:6648701

Kostuik, J P


Cytomegalovirus ischemic colitis and transverse myelitis in a renal transplant recipient.  


We report a rare case of cytomegalovirus (CMV)-associated ischemic colitis and transverse myelitis (TM) occurring precociously after renal transplantation. A 57-year-old male was transplanted with a cadaveric kidney on 5 June 2009. The patient was CMV seropositive and the donor was seronegative. Transplantation was followed shortly by TM, which resulted in paraplegia. The results of magnetic resonance imaging of the spinal cord showed abnormalities. Twenty days after transplantation, he developed abdominal pain with melena and was diagnosed as having CMV-associated ischemic colitis confirmed by colonoscopy and biopsy. Serological data and identification of the viral genome by polymerase chain reaction were confirmatory for CMV. Treatment consisted of intravenous ganciclovir, followed by polyvalent immunoglobulin. The outcome was favorable. Symptomatic CMV infection is relatively common among the renal transplant population. Early colonoscopy is beneficial for making a quick diagnosis and therefore helps to institute a prompt management of CMV colitis. Myelitis is less common in transplant recipients and diagnosis, therefore, was more difficult. PMID:23538355

Gorsane, Imen; Aloui, Sabra; Letaif, Ahmed; Hadhri, Rim; Haouala, Faouzi; Frih, Ameur; Dhia, Naceur Ben; Elmay, Mezri; Skhiri, Habib



A network of genetic repression and derepression specifies projection fates in the developing neocortex  

PubMed Central

Neurons within each layer in the mammalian cortex have stereotypic projections. Four genes—Fezf2, Ctip2, Tbr1, and Satb2—regulate these projection identities. These genes also interact with each other, and it is unclear how these interactions shape the final projection identity. Here we show, by generating double mutants of Fezf2, Ctip2, and Satb2, that cortical neurons deploy a complex genetic switch that uses mutual repression to produce subcortical or callosal projections. We discovered that Tbr1, EphA4, and Unc5H3 are critical downstream targets of Satb2 in callosal fate specification. This represents a unique role for Tbr1, implicated previously in specifying corticothalamic projections. We further show that Tbr1 expression is dually regulated by Satb2 and Ctip2 in layers 2–5. Finally, we show that Satb2 and Fezf2 regulate two disease-related genes, Auts2 (Autistic Susceptibility Gene2) and Bhlhb5 (mutated in Hereditary Spastic Paraplegia), providing a molecular handle to investigate circuit disorders in neurodevelopmental diseases.

Srinivasan, Karpagam; Leone, Dino P.; Bateson, Rosalie K.; Dobreva, Gergana; Kohwi, Yoshinori; Kohwi-Shigematsu, Terumi; Grosschedl, Rudolf; McConnell, Susan K.



Uncoupling of neuroinflammation from axonal degeneration in mice lacking the myelin protein tetraspanin-2.  


Deficiency of the major constituent of central nervous system (CNS) myelin, proteolipid protein (PLP), causes axonal pathology in spastic paraplegia type-2 patients and in Plp1(null) -mice but is compatible with almost normal myelination. These observations led us to speculate that PLP's role in myelination may be partly compensated for by other tetraspan proteins. Here, we demonstrate that the abundance of the structurally related tetraspanin-2 (TSPAN2) is highly increased in CNS myelin of Plp1(null) -mice. Unexpectedly, Tspan2(null) -mutant mice generated by homologous recombination in embryonic stem cells displayed low-grade activation of astrocytes and microglia in white matter tracts while they were fully myelinated and showed no signs of axonal degeneration. To determine overlapping functions of TSPAN2 and PLP, Tspan2(null) *Plp1(null) double-mutant mice were generated. Strikingly, the activation of astrocytes and microglia was strongly enhanced in Tspan2(null) *Plp1(null) double-mutants compared with either single-mutant, but the levels of dysmyelination and axonal degeneration were not increased. In this model, glial activation is thus unlikely to be caused by axonal pathology, and vice versa does not potentiate axonal degeneration. Our results support the concept that multiple myelin proteins have distinct roles in the long-term preservation of a healthy CNS, rather than in myelination per se. GLIA 2013;61:1832-1847. PMID:24038504

de Monasterio-Schrader, Patricia; Patzig, Julia; Möbius, Wiebke; Barrette, Benoit; Wagner, Tadzio L; Kusch, Kathrin; Edgar, Julia M; Brophy, Peter J; Werner, Hauke B



Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.  


Pelizaeus-Merzbacher disease (PMD) and spastic paraplegia type 2 (SPG2) are rare X-linked allelic disorders caused by mutations in the PLP1 gene, encoding the main component of myelin, proteolipid protein 1 (PLP1). Various types of mutations, acting through different molecular mechanism, cause the diseases. Duplications of variable size at Xq22.2, containing the entire PLP1, are responsible for more than 50% of PMD cases. Other causes of PMD include point mutations, gene deletions and triplications. There is a spectrum of PLP1-related disorders with some correlation between the type of mutation and phenotype. Generally the missense mutations cause the more severe forms of the disease, the most common PLP1 duplications, result in the classical PMD whereas deletions and null mutations in mild form of PMD and SPG2. We present a patient with c.593G>A substitution in the exon 4 of the PLP1 gene causing a novel missense mutation p.Gly198Asp, finally diagnosed as PMD but showing an atypical MRI picture. PMID:23245814

Hoffman-Zacharska, Dorota; Kmie?, Tomasz; Pozna?ski, Jaros?aw; Jurek, Marta; Bal, Jerzy



Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.  


Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder due to a deficiency of the mitochondrial enzyme sterol 27-hydroxylase (CYP 27) with reduced or no chenodeoxycholic synthesis. This deficiency leads to an accumulation of cholestanol in different sites such as the eye lens, central nervous system or tendons. We report a 64-year-old female patient with a progressive gait disorder associated with cognitive decline since the age of 59. The patient had no mental retardation, cataract or chronic diarrhea. Her family reported increasing behavioral modifications 10 years previously. Clinical examination revealed a spastic paraplegia and bilateral xanthomas on the Achilles tendons. Cerebral magnetic resonance imaging (MRI) revealed diffuse hyperintense T2 abnormalities in the pyramidal tracts from the internal capsules to the cerebral peduncles also Technetium-99m-ECD brain SPECT showed a severe cerebellar hypoperfusion. Serum cholestanol analysis was 7 µmol/l (N). After 2 years, she was bedridden and died of aspiration pneumonia. The neuropathological study confirmed the CTX diagnosis and the sequencing analysis revealed that she was compound heterozygous for two mutations in the CYP27A1 gene: 1435 C > T (exon 7) on one allele and a new mutation, 1017 G > C (exon 5) on the other. The interest of the present case is to report neuropathology findings strongly correlated with the MRI and SPECT abnormalities. PMID:21073839

Wallon, D; Guyant-Maréchal, L; Laquerrière, A; Wevers, R A; Martinaud, O; Kluijtmans, L A J; Yntema, H G; Saugier-Veber, P; Hannequin, D


Inborn errors of brain myelin formation.  


Inborn errors of brain myelin formation or hypomyelinating leukodystrophies (HLD) represent a heterogeneous group of white matter diseases related to a primitive impairment of oligodendrocytes to produce myelin in the central nervous system (CNS). Cerebral magnetic resonance imaging (MRI) allows an assessment of the myelination pattern. The clinical presentation is related to the degree of hypomyelination and its consequences on axonal functions. When the gene defect interferes with the active infantile phase of myelination, the consequences might be severe, with delayed and loss of psychomotor development, absence of myelin signal on cerebral MRI and of identifiable waves on cerebral evoked potentials, as described by Pelizaeus and Merzbacher (PMD). When the pathophysiological mechanism is less severe, myelin production is maintained, although signs of progressive axonopathy are observed, related to progressive spastic paraplegia (SPG) associated with cognitive or behavioral disturbances. HLDs have been classified according to gene defects or associated signs. The X-linked HDL1 (PMD and SPG2) is related to the gene that controls the production of the major CNS myelin proteins, the proteolipid proteins (PLP). The gap junction protein, gamma 2 gene (GJC2) encoding oligodendrocyte-specific connexin, has been shown to be involved in the autosomal recessive HLD2 (PMLD1 and SPG44). PMID:23622380

Boespflug-Tanguy, Odile



Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans  

NASA Astrophysics Data System (ADS)

Mast syndrome is a complicated form of human hereditary spastic paraplegias, caused by a mutation in the gene acid cluster protein 33, which encodes a protein designated as "maspardin." Maspardin presents similarity to the ?/?-hydrolase superfamily, but might lack enzymatic activity and rather be involved in protein-protein interactions. Association with the vesicles of the endosomal network also suggested that maspardin may be involved in the sorting and/or trafficking of molecules in the endosomal pathway, a crucial process for maintenance of neuron health. Despite a high conservation in living organisms, studies of maspardin in other animal species than mammals were lacking. In the cotton armyworm Spodoptera littoralis, an insect pest model, analysis of an expressed sequence tag collection from antenna, the olfactory organ, has allowed identifying a maspardin homolog ( SlMasp). We have investigated SlMasp tissue distribution and temporal expression by PCR and in situ hybridization techniques. Noteworthy, we found that maspardin was highly expressed in antennae and associated with the structures specialized in odorant detection. We have, in addition, identified maspardin sequences in numerous "nonmammalian" species and described here their phylogenetic analysis in the context of metazoan diversity. We observed a strong conservation of maspardin in metazoans, with surprisingly two independent losses of this gene in two relatively distant ecdysozoan taxa that include major model organisms, i.e., dipterans and nematodes.

Chertemps, Thomas; Montagné, Nicolas; Bozzolan, Françoise; Maria, Annick; Durand, Nicolas; Maïbèche-Coisne, Martine



Effects of co-administration of clenbuterol and testosterone propionate on skeletal muscle in paraplegic mice.  


Spinal cord injury (SCI) is generally associated with a rapid and significant decrease in muscle mass and corresponding changes in skeletal muscle properties. Although beta(2)-adrenergic and androgen receptor agonists are anabolic substances clearly shown to prevent or reverse muscle wasting in some pathological conditions, their effects in SCI patients remain largely unknown. Here we studied the effects of clenbuterol and testosterone propionate administered separately or in combination on skeletal muscle properties and adipose tissue in adult CD1 mice spinal-cord-transected (Tx) at the low-thoracic level (i.e., induced complete paraplegia). Administered shortly post-Tx, these substances were found to differentially reduce loss in body weight, muscle mass, and muscle fiber cross-sectional area (CSA) values. Although all three treatments induced significant effects, testosterone-treated animals were generally less protected against Tx-related changes. However, none of the treatments prevented fat tissue loss or muscle fiber type conversion and functional loss generally found in Tx animals. These results provide evidence suggesting that clenbuterol alone or combined with testosterone may constitute better clinically-relevant treatments than testosterone alone to decrease muscle atrophy (mass and fiber CSA) in SCI subjects. PMID:20482256

Ung, Roth-Visal; Rouleau, Pascal; Guertin, Pierre A



Spinal dysraphism: experience with 250 cases operated upon.  


During a period of 4 years (December 1983-December 1987) 250 children were operated upon by the authors. At the outpatient clinic of the New Children's Hospital 313 infants and children suffering a myelodysraphic lesion were seen, 63 of whom were not treated surgically owing to the presence of severe hydrocephalus in 16 cases and complete flaccid paraplegia with marked sphincteric disturbances in 47. All of the patients came from poor families. Malnutrition, many siblings per family, poor maternal care, and repeated pregnancies and abortions have added to the large incidence of such a handicap in Egypt. The clinical features, diagnosis, and management of 200 cases of spinal bifida aperta (SBA) and 50 of spina bifida occulta (SBO) are summarized. SBA cases were operated upon as soon as possible from the time of their presentation; their preliminary assessment included an exhaustive general, neurological, urological, and orthopedic examination; and investigations such as plain X-rays to the back and skull, CT scanning of the cranium, spinal myelogram, and metrizamide CT scanning to the back were performed. The surgical outcome is far from being satisfactory in the sense of producing an ambulatory, intelligent, healthy individual, especially in a meningomyelocele patient having a high-level lesion. The authors believe that there is still much to be done for these children marked by fate, and the neurosurgeon should be one among several other physicians devoted to the amelioration or at least the prevention of worsening, if possible, of the condition in such unfortunate and handicapped children. PMID:2680081

Assaad, A; Mansy, A; Kotb, M; Hafez, M



Spinal Cord Injury in the Pediatric Population: A Systematic Review of the Literature  

PubMed Central

Abstract Spinal Cord Injury (SCI) in the pediatric population is relatively rare but carries significant psychological and physiological consequences. An interdisciplinary group of experts composed of medical and surgical specialists treating patients with SCI formulated the following questions: 1) What is the epidemiology of pediatric spinal cord injury and fractures?; 2) Are there unique features of pediatric SCI which distinguish the pediatric SCI population from adult SCI?; 3) Is there evidence to support the use of neuroprotective approaches, including hypothermia and steroids, in the treatment of pediatric SCI? A systematic review of the literature using multiple databases was undertaken to evaluate these three specific questions. A search strategy composed of specific search terms (Spinal Cord Injury, Paraplegia, Quadriplegia, tetraplegia, lapbelt injuries, seatbelt injuries, cervical spine injuries and Pediatrics) returned over 220 abstracts that were evaluated and by two observers. Relevant abstracts were then evaluated and papers were graded using the Downs and Black method. A table of evidence was then presented to a panel of experts using a modified Delphi approach and the following recommendation was then formulated using a consensus approach: Pediatric patients with traumatic SCI have different mechanisms of injury and have a better neurological recovery potential when compared to adults. Patients with SCI before their adolescent growth spurt have a high likelihood of developing scoliosis. Because of these differences, traumatic SCI should be highly suspected in the presence of abnormal neck or neurological exam, a high-risk mechanism of injury or a distracting injury even in the absence of radiological anomaly.

Mac-Thiong, Jean-Marc; Roy-Beaudry, Marjolaine; Sosa, Jose Felix; Labelle, Hubert



Etiology of Thrombocytosis in a General Medicine Population: Analysis of 801 Cases With Emphasis on Infectious Causes  

PubMed Central

Background The clinical importance of an elevated platelet count is often overlooked, particularly as a diagnostic clue to the presence of an underlying infection. We sought to better describe the relationship between thrombocytosis and inflammatory conditions, with a focus on infectious causes. Methods We retrospectively reviewed 801 sequential cases of thrombocytosis (platelet count > 500 × 109/L) at a tertiary care hospital. Results Essential thrombocythemia was the most common cause of primary thrombocytosis, and these patients were more likely to have extreme (> 800 × 109/L) and prolonged (> 1 month) thrombocytosis. Secondary thrombocytosis was more common than primary, with infectious causes accounting for nearly half the cases. Demographic factors associated with an infectious etiology included inpatient status, quadriplegia/paraplegia, an indwelling prosthesis, dementia and diabetes. Clinical and laboratory characteristics associated with an infectious cause of thrombocytosis included fever, tachycardia, weight loss, hypoalbuminemia, neutrophilia, leukocytosis and anemia. Patients with thrombocytosis secondary to infection had a more rapid normalization of platelet count, but higher risk of dying, than those with secondary, non-infectious causes. Conclusions Infection is a common cause of thrombocytosis and should be considered in patients with comorbidities that increase risk of infection and when clinical and/or laboratory data support an infectious etiology. Thrombocytosis may have prognostic implications as a clinical parameter.

Rose, Stacey R.; Petersen, Nancy J.; Gardner, Tracie J.; Hamill, Richard J.; Trautner, Barbara W.



Endoscope-assisted minimally invasive transforaminal thoracic interbody fusion.  


Surgical treatment of thoracic disc herniation is technically challenging from anterior, lateral or posterior approaches. Because of the deeply located thoracic discs and non-retractable thoracic thecal sac, standard anterior and lateral procedures for discectomy require extensive tissue dissection causing prolonged lengths of stay in hospital. In this video, the authors present a case of calcified disc herniation at the level of T10/11 causing paraplegia and voiding difficulty. The patient was operated on via an endoscope-assisted minimally invasive transforaminal thoracic interbody fusion (EA-TTIF). The herniated disc and calcification were removed through a 26-mm tubular retractor, under microscopes via a unilateral transpedicular approach. The endoscopes were used for direct visualization of the ventral thecal sac and confirmation of complete decompression. After the operation, the patient's neurological function completely recovered. Minimally invasive EA-TTIF is a viable and effective option for the surgical management of thoracic disc herniation. Thoracic interbody fusion can be achieved through a minimally invasive approach from the back. The video can be found here: PMID:23829841

Liao, Chih-Hsiang; Wu, Jau-Ching; Huang, Wen-Cheng; Wang, Wei-Hsin; Chang, Peng-Yuan; Cheng, Henrich; Yang-Shih