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1

Genetics Home Reference: Spastic paraplegia type 15  

MedlinePLUS

... OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 15 On this page: Description Genetic changes Inheritance Diagnosis ... Reviewed April 2014 What is spastic paraplegia type 15? Spastic paraplegia type 15 is part of a ...

2

Living with Paraplegia: Tensions and Contradictions  

ERIC Educational Resources Information Center

Although it is well established that paraplegia results in dramatic lifestyle changes, little is understood about living in the community with paraplegia, especially from the perspective of the person with paraplegia. To develop insight into this experience, in-depth, personal interviews were conducted with seven individuals with paraplegia who…

O'Connor, Deborah L.; Young, Jenny M.; Saul, Megan Johnston

2004-01-01

3

Paraplegia increases skeletal muscle autophagy  

PubMed Central

INTRODUCTION Paraplegia results in significant skeletal muscle atrophy through increases in skeletal muscle protein breakdown. Recent work has identified a novel SIRT1-p53 pathway that is capable of regulating autophagy and protein breakdown. METHODS Soleus muscle was collected from 6 male Sprague-Dawley rats 10 weeks following complete T(4)-T(5) spinal-cord transection (paraplegia) and 6 male sham-operated rats (control). We utilized immunoblotting methods to measure intracellular proteins and qRT-PCR to measure the expression of skeletal muscle microRNAs. RESULTS SIRT1 protein expression was 37% lower, and p53 acetylation (LYS379) was increased in the paraplegia rats (P<0.05). Atg7 and Beclin-1, markers of autophagy induction, were elevated in paraplegia compared to controls (P<0.05). DISCUSSION Severe muscle atrophy resulting from chronic paraplegia appears to increase skeletal muscle autophagy independent of SIRT1 signaling. We conclude that chronic paraplegia may cause an increase in autophagic cell-death and negatively impact skeletal muscle protein balance.

Fry, Christopher S.; Drummond, Micah J.; Lujan, Heidi L.; DiCarlo, Stephen E.; Rasmussen, Blake B.

2012-01-01

4

Genetics Home Reference: Spastic paraplegia type 2  

MedlinePLUS

... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 2 On this ... type 2 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

5

Genetics Home Reference: Spastic paraplegia type 11  

MedlinePLUS

... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 11 On this ... type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

6

Genetics Home Reference: Spastic paraplegia type 8  

MedlinePLUS

... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 8 On this ... type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

7

Genetics Home Reference: Spastic paraplegia type 4  

MedlinePLUS

... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Spastic paraplegia type 4 On this ... type 4 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

8

Problems and perspectives in paraplegia  

NASA Technical Reports Server (NTRS)

Improved clinical treatment of the paraplegic, developed during World War II, has reduced the overall mortality rate from close to 100 percent to 30 percent. Despite major clinical improvements, mainly in treatment of the acute phase of paraplegia, and despite greater rehabilitation efforts, the spinal injured person is never rehabilitated in the sense that he reaches an optimum and stays there. He is always exposed to the constant threat of deterioration of his physiological, sociological, and psychological state.

Nashold, B.

1974-01-01

9

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.

2007-01-01

10

Strümpell's familial spastic paraplegia: genetics and neuropathology  

Microsoft Academic Search

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

Wilhelmina M. H. Behan; Maria Maia

1974-01-01

11

Mitochondrial DNA polymorphisms\\/haplogroups in hereditary spastic paraplegia  

Microsoft Academic Search

Mitochondrial dysfunction could contribute to the development of spastic paraplegia. Among others, two of the genes implicated\\u000a in hereditary spastic paraplegia encoded mitochondrial proteins and some of the clinical features frequently found in these\\u000a patients resemble those observed in patients with mitochondrial DNA (mtDNA) mutations. We investigated the association between\\u000a common mtDNA polymorphisms and spastic paraplegia. The ten mtDNA polymorphisms

Elena Sánchez-Ferrero; Eliecer Coto; Ana I. Corao; Marta Díaz; Josep Gámez; Jesús Esteban; Juan F. Gonzalo; Samuel I. Pascual-Pascual; Adolfo López De Munaín; Germán Morís; Jon Infante; Emilia Del Castillo; Celedonio Márquez; Victoria Álvarez

12

Complete paraplegia resulting from surfer's myelopathy.  

PubMed

Three patients with diagnoses of surfer's myelopathy (24-31 yrs old; two men, one woman) were admitted to our rehabilitation hospital. All three patients were novice surfers and had a typical clinical course of onset: rapid progression of paraplegia after back pain while taking surfing lessons. Despite months of rehabilitation at our hospital, in all three patients, complete paraplegia (T9-T12) and bladder-bowel dysfunction remained. Our case profiles suggest that the neurologic outcome of surfer's myelopathy is potentially catastrophic, as has been suggested in previous reports. Surfer's myelopathy has been estimated to be an ischemic thoracic myelopathy. From our case profiles and review of the literature, not only the prolonged prone hyperextended posture of paddling but also the repetitive mechanical stress caused by flexion-extension of the spinal column may be related to its pathogenesis. To prevent surfer's myelopathy and to avoid progressive deterioration of neurologic function, increased education and awareness are essential. PMID:22257974

Takakura, Tomokazu; Yokoyama, Osamu; Sakuma, Fujiko; Itoh, Ryousuke; Romero, Ray R

2013-09-01

13

Genetics Home Reference: Spastic paraplegia type 3A  

MedlinePLUS

... ClinicalTrials.gov 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 ...

14

Paraplegia due to Acute Aortic Coarctation and Occlusion  

PubMed Central

Coarctation and occlusion of the aorta is a rare condition that typically presents with hypertension or cardiac failure. However, neuropathy or myelopathy may be the presenting features of the condition when an intraspinal subarachnoid hemorrhage has compressed the spinal cord causing ischemia. We report two cases of middle-aged males who developed acute non-traumatic paraplegia. Undiagnosed congenital abnormalities, such as aortic coarctation and occlusion, should be considered for patients presenting with nontraumatic paraplegia in the absence of other identifiable causes. Our cases suggest that spinal cord ischemia resulting from acute spinal subarachnoid hemorrhage and can cause paraplegia, and that clinicians must carefully examine patients presenting with nontraumatic paraplegia because misdiagnosis can delay initiation of the appropriate treatment.

Park, Chang-Bum; Kim, Min-Ki; Kim, Sang-Hyun

2014-01-01

15

Paraplegia following surgery for medulloblastoma in the posterior fossa  

Microsoft Academic Search

Postoperative paraplegia following non-spinal surgical procedures is very rare. We report a rare case of medulloblastoma in which paraplegia occurred after surgery. A 4-year-old boy suffered frequent vomiting and was found to have a tumour in the fourth ventricle associated with obstructive hydrocephalus. The tumour had already disseminated in the upper cervical spinal cord and thoracic cord. After surgical removal

Kazuhiro Hongo; Hiroshi Nakagawa; Kiyoshi Tamai; Seiko Kobayashi

1999-01-01

16

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

2013-01-01

17

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...

1970-01-01

18

Factors influencing bone loss in paraplegia.  

PubMed

Background and aim: Significant bone loss develops in the first months and continues years after spinal cord injury. A cross - sectional comparative study was performed to evaluate factors influencing bone loss in spinal cord injured men with paraplegia.Patients and Methods: We studied 31 paraplegic men in chronic stage (>1.5 years) in comparison with 30 able-bodied men of similar age, height, and weight. The paraplegic men were allocated into 2 subgroups based on the neurological level of injury; high paraplegics (n=16, T4-T7 neurological level of injury) and low paraplegics (n=15, T8-T12 neurological level of injury). The influence of positive and negative factors (spasticity, standing-therapeutic walking, and duration of paralysis) on bone structures was evaluated by pQCT measurement of the total, trabecular and cortical bone mineral density (BMDtot, BMDtrab, BMDcort, respectively) and cortical thickness (THIcort) at the distal tibial epiphysis and the tibial diaphysis at 4% and 38% proximal to the distal end of the tibia. The stress strain index (SSI) was measured at 14% (SSI(2)) and at 38% (SSI(3)) of the tibial diaphysis, and the difference SSI(3) - SSI(2) (?SSI(3-2)) was calculated.Results: In all paraplegics, bone mineral density parameters were significantly reduced compared to the control group (BMDtot: p<0.0005, BMDtrab: p<0.0005, BMDcort: p=0.029, THIcort: p=0.019, SSI(2): p=0.009, SSI(3): p=0.003, respectively). Paraplegics who used standing frames or long brace orthoses had statistically significant higher bone mass and geometric parameters (BMDtrab: p=0.03, BMDtot: p=0.01, THIcort: p=0.013, respectively), while spasticity did not protect bone. The duration of paralysis was significantly related to trabecular bone loss (r=-0.5, p=0.05) and cortical thickness (r=-0.6, p=0.006) in high paraplegics and to ?SSI(3-2) in low paraplegics (r=0.534, p=0.03).Conclusions: The neurological level of injury adversely affects bone strength in paralyzed lower extremities such as the distal tibia. Standing or therapeutic walking could possibly have a positive effect in cortical and trabecular bone in paraplegia. PMID:21607037

Dionyssiotis, Y; Lyritis, G P; Mavrogenis, A F; Papagelopoulos, P J

2011-01-01

19

Factors influencing bone loss in paraplegia  

PubMed Central

Background and aim: Significant bone loss develops in the first months and continues years after spinal cord injury. A cross – sectional comparative study was performed to evaluate factors influencing bone loss in spinal cord injured men with paraplegia. Patients and Methods: We studied 31 paraplegic men in chronic stage (>1.5 years) in comparison with 30 able-bodied men of similar age, height, and weight. The paraplegic men were allocated into 2 subgroups based on the neurological level of injury; high paraplegics (n=16, T4-T7 neurological level of injury) and low paraplegics (n=15, T8-T12 neurological level of injury). The influence of positive and negative factors (spasticity, standing-therapeutic walking, and duration of paralysis) on bone structures was evaluated by pQCT measurement of the total, trabecular and cortical bone mineral density (BMDtot, BMDtrab, BMDcort, respectively) and cortical thickness (THIcort) at the distal tibial epiphysis and the tibial diaphysis at 4% and 38% proximal to the distal end of the tibia. The stress strain index (SSI) was measured at 14% (SSI2) and at 38% (SSI3) of the tibial diaphysis, and the difference SSI3 - SSI2 (?SSI3-2) was calculated. Results: In all paraplegics, bone mineral density parameters were significantly reduced compared to the control group (BMDtot: p<0.0005, BMDtrab: p<0.0005, BMDcort: p=0.029, THIcort: p=0.019, SSI2: p=0.009, SSI3: p=0.003, respectively). Paraplegics who used standing frames or long brace orthoses had statistically significant higher bone mass and geometric parameters (BMDtrab: p=0.03, BMDtot: p=0.01, THIcort: p=0.013, respectively), while spasticity did not protect bone. The duration of paralysis was significantly related to trabecular bone loss (r=-0.5, p=0.05) and cortical thickness (r=-0.6, p=0.006) in high paraplegics and to ?SSI3-2 in low paraplegics (r=0.534, p=0.03). Conclusions: The neurological level of injury adversely affects bone strength in paralyzed lower extremities such as the distal tibia. Standing or therapeutic walking could possibly have a positive effect in cortical and trabecular bone in paraplegia.

Dionyssiotis, Y; Lyritis, G P; Mavrogenis, A F; Papagelopoulos, P J

2011-01-01

20

Prenatal diagnosis of hereditary spastic paraplegia.  

PubMed

Hereditary spastic paraplegia (HSP) is a degenerative neurologic disorder that causes progressive, often severe, spastic weakness in the legs. Autosomal dominant HSP is a highly penetrant, genetically heterogeneous disorder with loci present on chromosomes 2p21-24, 2q24-34, 8q23-24, 10q23.3-24, 12q13, 14q12-23, 15q11-14 and 19q13.1. We identified a large HSP kindred in which the disorder was tightly linked to chromosome 14q12-23. We tested chorionic villus DNA samples of two at-risk fetuses for inheritance of microsatellite polymorphisms flanking and within this locus that segregated with the disease in this family. Whereas samples from the first fetus showed inheritance of a haplotype segregating with the disease allele (indicating high risk of developing HSP), samples from the second fetus showed inheritance of a haplotype segregating with the normal allele (indicating low risk of developing HSP). This is the first report of prenatal testing for HSP. Published in 2001 by John Wiley & Sons, Ltd. PMID:11260609

Hedera, P; Williamson, J A; Rainier, S; Alvarado, D; Tukel, T; Apak, M; Fink, J K

2001-03-01

21

Nontraumatic Acute Paraplegia Associated With Cervical Disk Herniation  

PubMed Central

Background: Acute paraplegia is a true emergency. It is often the result of trauma but is rarely reported in association with cervical disk herniation in patients without antecedent injury. Methods: Case report. Findings: This 75-year-old man presented with acute paraplegia due to severe compression of the spinal cord by herniation of the C4-C5 cervical disk. He underwent emergency diskectomy and anterior fusion. Postoperatively, his neurologic functions improved gradually. Conclusions: Cervical disk herniation should be considered in the differential diagnosis of nontraumatic acute paraplegia. Pre-existing narrowed canal is an important predisposing factor and excessive neck movements are believed to be triggering factors. Immediate early decompressive surgery is recommended to avoid irreversible progression of neurologic deficit.

Liu, Chao; Huang, Yue; Cai, Hong-Xin; Fan, Shun-Wu

2010-01-01

22

[Paraplegia associated with acute aortic dissection complicated with pulmonary embolism and re-dissection].  

PubMed

Paraplegia associated with acute aortic dissection is one of the most serious complications. We experienced a case of Stanford type A acute aortic dissection with paraplegia and cardiac tamponade because the dissection was already thrombosed, conservative therapy was chosen. After drainage of pericardial effusion, a spinal drainage tube was inserted. Eleven days later, pulmonary embolism and re-dissection occurred, and an emergency operation was performed. Although the operation was successful, paraplegia did not improve. Even if type A acute aortic dissection is complicated with paraplegia, early surgical repair of aortic dissection should be considered, when paraplegia does not improve rapidly in spite of treatment. PMID:19999086

Murakami, H; Makuuchi, H; Chikada, M; Kobayashi, T; Suzuki, T; Ando, T; Oono, M; Ono, H; Chiba, K; Nagata, T

2009-12-01

23

Spinal cord potentials in traumatic paraplegia and quadriplegia.  

PubMed Central

Cortical, cervical and lumbar somatosensory evoked potentials were recorded following median and tibial nerve stimulation in patients with traumatic paraplegia and quadriplegia. The isolated cord was able to produce normal potentials even during spinal shock if the vertical extent of the lesion did not involve the generator mechanisms. The cervical potentials showed subtle changes in paraplegia at Th5 levels and below. In high cervical lesions the early cervical potentials may still be present but the later potentials were absent or, in partial lesions, delayed.

Sedgwick, E M; el-Negamy, E; Frankel, H

1980-01-01

24

Motor and somatosensory evoked potentials in hereditary spastic paraplegia  

Microsoft Academic Search

Motor evoked potentials (MEPs) from the arms and legs to transcranial stimulation of the motor cortex and somatosensory evoked potentials (SSEPs) from stimulation of the nerves of the arms and legs, were recorded in 11 patients with hereditary spastic paraplegia. Electrophysiological abnormalities were found to be distributed differently among the systems examined; the longer the pathway, the higher the incidence

L Pelosi; B Lanzillo; A Perretti; L Santoro; L Blumhardt; G Caruso

1991-01-01

25

Pulmonary Tuberculosis Presenting Acutely as Paraplegia: An Unusual Presentation  

PubMed Central

Extrapulmonary tuberculosis most commonly involves the bones and the spine. The present case is that of a young boy who presented with acute onset paraplegia without any pre-existant complaints of cough with sputum, fever, night sweats or weight loss.

Pande, Apurva

2013-01-01

26

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

2011-01-01

27

Aortoiliac Occlusive Disease Presenting as Sudden Onset Paraplegia.  

PubMed

Thromboembolism and atherosclerotic stenosis both can cause arterial occlusion. Aortoiliac occlusive disease involving bifurcation of the aortoiliac artery induces symptoms of ischemia such as claudication and pain of buttocks and thighs, decreased bilateral femoral pulses, and impotence. Here, we describe a 58-year-old woman with a past history of atrial fibrillation and lacuna stroke with minimal right side weakness. She presented to our emergency department with sudden onset bilateral pain in the legs and paraplegia. A comprehensive examination revealed paresthesia and decreasing bilateral distal pulses. Computed tomographic imaging showed filling defects over the low abdominal aorta just above the bifurcation of the common iliac artery and bilateral femoral arteries. Acute aortic embolic occlusion was suspected. Her symptoms were resolved after emergent thrombectomy for acute limb ischemia. Physicians need to be aware of aortoiliac embolic occlusive disease which may present as acute paraplegia. PMID:24509374

Lai, Chien-Hung; Wang, Cheng-Hsien; Wu, Shih-Yun; Shih, Hong-Mo

2014-07-01

28

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia  

Microsoft Academic Search

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by pro- gressive spasticity of the lower limbs. Five AD-HSP loci have been mapped to chromosomes 14q, 2p, 15q, 8q and 12q. The SPG4 locus at 2p21-p22 has been shown to account for ?40% of all AD-HSP families. SPG4 encoding spastin, a putative nuclear AAA

Nùria Fonknechten; Delphine Mavel; Claire-Sophie Davoine; Corinne Cruaud; Dominikus Boentsch; Delphine Samson; Paula Coutinho; Michael Hutchinson; Paul McMonagle; Jean-Marc Burgunder; Antonio Tartaglione; Olivier Heinzlef; Nollaig Parfrey; Alexis Brice; Bertrand Fontaine; Jean Weissenbach; Alexandra Dürr; Jamilé Hazan

2000-01-01

29

Spinal cord protection: development of a paraplegia-preventive solution.  

PubMed

We present a clinically available method to protect the spinal cord against ischemic or reperfusion injury and to prevent paraplegia after cross-clamping of the aorta. We separated 35 rabbits into five equal groups and clamped each animal's abdominal aorta distal to the left renal artery. We also occluded the aortas 2 cm above the iliac bifurcation for 45 minutes with inflated 5F balloon catheters. Through the catheter port distal to each balloon one of four different solutions was infused at 3 degrees C for 3 minutes at a rate of 5 mL/min (group I, uninfused control; group II, lactated Ringer's solution; group III, lactated Ringer's solution + 30 mg/kg of methylprednisolone; group IV, lactated Ringer's solution+methylprednisolone + 3 mL of 20% mannitol; group V, lactated Ringer's solution+methylprednisolone+mannitol + 10 mg/kg of vitamins E and C). We assessed the neurologic status of the hind limbs on the second postoperative day using Tarlov's criteria. The neurologic status in groups III, IV, and V was significantly superior to that of group I (p < 0.05, groups III versus I; p < 0.01, groups IV and V versus I). Spastic paraplegia occurred in 71% of group I, in 43% of group II, in 29% of group III, in 14% of group IV, and not at all in group V. The infusion of our specially blended solution with several spinal cord neuroprotective properties (hypothermia, methylprednisolone, mannitol, and vitamins E and C) achieved the best spinal cord protection against ischemic or reperfusion injury and prevented postoperative paraplegia. PMID:8037508

Ueno, T; Furukawa, K; Katayama, Y; Suda, H; Itoh, T

1994-07-01

30

[Transient delayed paraplegia after repair of thoracic and thoracoabdominal aneurysms].  

PubMed

Thoracoabdominal aneurysm requires multidisciplinary management due to its complexity both in surgical technique and anesthetic considerations. One of the most feared postoperative complication is spinal cord ischemia. It can be presented as different clinical patterns, and its recovery may be partial or complete. The postoperative management of spinal cord ischemia is mainly based on techniques to increase spinal cord perfusion, above all, hemodynamic stability and cerebrospinal fluid drainage. We present two cases of delayed paraplegia after an open repair of a thoracoabdominal aneurysm and a descending thoracic aortic aneurysm repair using an endovascular stent graft. They both had a complete neurological recovery after cerebrospinal fluid drainage. PMID:22963762

Martín Torrijos, M; Aguilar Lloret, C; Ariño Irujo, J J; Serrano Hernando, F J; López Timoneda, F

2013-11-01

31

Paraplegia and sensory deficit caused by angiotropic large cell lymphoma.  

PubMed

We report a case of angiotropic large cell lymphoma (ALCL) with central system involvement in which there was initially an isolated spinal cord stroke with paraplegia. MR imaging of the spinal cord demonstrated increased signal intensity in the center of the cord on T2-weighted images and subsequently a cerebral lesion in the right temporal lobe. The diagnosis of ALCL was established by brain biopsy. An enlarged spinal cord with enhancement after administration of contrast material and increased signal intensity on T2-weighted images, while not specific for ALCL, may be the first imaging findings of that disease. PMID:15569758

Legeais, Marc; Gallas, Sophie; Cottier, Jean Philippe; Herbreteau, Denis

2004-01-01

32

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia  

PubMed Central

Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origins. Five homozygous truncating (n = 3) and missense (n = 2) mutations were identified in B4GALNT1. After this finding, we analyzed the entire coding region of this gene in 65 additional cases, and three mutations were identified in two subjects. All mutated cases presented an early-onset spastic paraplegia, with frequent intellectual disability, cerebellar ataxia, and peripheral neuropathy as well as cortical atrophy and white matter hyperintensities on brain imaging. B4GALNT1 encodes ?-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), involved in ganglioside biosynthesis. These findings confirm the increasing interest of lipid metabolism in HSPs. Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis.

Boukhris, Amir; Schule, Rebecca; Loureiro, Jose L.; Lourenco, Charles Marques; Mundwiller, Emeline; Gonzalez, Michael A.; Charles, Perrine; Gauthier, Julie; Rekik, Imen; Acosta Lebrigio, Rafael F.; Gaussen, Marion; Speziani, Fiorella; Ferbert, Andreas; Feki, Imed; Caballero-Oteyza, Andres; Dionne-Laporte, Alexandre; Amri, Mohamed; Noreau, Anne; Forlani, Sylvie; Cruz, Vitor T.; Mochel, Fanny; Coutinho, Paula; Dion, Patrick; Mhiri, Chokri; Schols, Ludger; Pouget, Jean; Darios, Frederic; Rouleau, Guy A.; Marques, Wilson; Brice, Alexis; Durr, Alexandra; Zuchner, Stephan; Stevanin, Giovanni

2013-01-01

33

Paraplegia after aortic and superior mesenteric artery stenting for occlusive disease.  

PubMed

Paraplegia after endovascular therapy for aortic and visceral artery occlusive disease is an extremely uncommon occurrence. Two cases of paraplegia after placement of an aortic covered stent for infrarenal aortic stenosis and a superior mesenteric artery stent for chronic visceral ischemia are presented. In both patients, embolization of the arterial supply to the spinal cord was the presumed cause. One patient had a slight recovery after intense physical therapy and rehabilitation. The second patient did not have any recovery from her paraplegia. PMID:24295883

Hans, Sachinder S; Ngo, William; McAllister, Michael

2014-02-01

34

Spontaneous Recovery of Paraplegia Caused by Spinal Epidural Hematoma after Removal of Epidural Catheter  

PubMed Central

We report a patient who developed paraplegia caused by a spinal epidural hematoma after removal of an epidural catheter, which resolved spontaneously. A 60-year-old woman underwent thoracoscopic partial resection of the left lung under general anesthesia combined with epidural anesthesia. She neither was coagulopathic nor had received anticoagulants. Paraplegia occurred 40 minutes after removal of the epidural catheter on the first postoperative day. Magnetic resonance images revealed a spinal epidural hematoma. Surgery was not required as the paraplegia gradually improved until, within 1 hour, it had completely resolved. Hypoesthesia had completely resolved by the third postoperative day.

Nitahara, Keiichi

2014-01-01

35

A Case of Effective Cerebrospinal Fluid Drainage for Paraplegia Caused by Acute Aortic Dissection  

PubMed Central

A 65-year-old man with sudden back pain was transferred to our hospital by ambulance, who also complained of sensory and motor disorder of bilateral legs on arrival. The neurological disorder was gradually aggravated and paraplegia below the level of Th10 was manifested. Computed tomography demonstrated DeBakey IIIb acute aortic dissection; therefore, the paraplegia was thought to be due to spinal cord ischemia caused by the acute aortic dissection. Emergent cerebrospinal fluid drainage was performed, and it was very effective for the relief from paraplegia. The hospital course after the drainage was uneventful and he was discharged on the 39th day after the onset of symptoms.

Hayatsu, Yukihiro; Nagaya, Koichi; Sakuma, Kei; Nagamine, Susumu

2011-01-01

36

Paraplegia following epidural analgesia: A potentially avoidable cause?  

PubMed Central

Neurological deficit is an uncommon but catastrophic complication of epidural anesthesia. Epidural hematomas and abscesses are the most common causes of such neurological deficit. We report the case of a patient with renal cell carcinoma with lumbar vertebral metastasis who developed paraplegia after receiving thoracic epidural anesthesia for a nephrectomy. Subsequently, on histo-pathological examination of the laminectomy specimen, the patient was found to have previously undiagnosed thoracic vertebral metastases which led to a thoracic epidural hematoma. In addition, delayed reporting of symptoms of neurological deficit by the patient may have impacted his outcome. Careful pre-operative investigation, consideration to using alternative modalities of analgesia, detailed patient counseling and stringent monitoring of patients receiving central neuraxial blockade is essential to prevent such complications.

Doctor, Jeson R.; Ranganathan, Priya; Divatia, Jigeeshu V.

2014-01-01

37

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.  

PubMed

Mutations in the SPG3A gene cause a form of pure, early-onset autosomal dominant hereditary spastic paraplegia linked to chromosome 14q. The encoded protein, atlastin, is a putative member of the dynamin superfamily of large GTPases involved in cellular trafficking patterns. We report a new atlastin mutation causing spastic paraplegia in association with axonal neuropathy in an Italian family. PMID:15742100

Scarano, Valentina; Mancini, Pietro; Criscuolo, Chiara; De Michele, Giuseppe; Rinaldi, Carlo; Tucci, Tecla; Tessa, Alessandra; Santorelli, Filippo M; Perretti, Anna; Santoro, Lucio; Filla, Alessandro

2005-08-01

38

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19  

PubMed Central

We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43.

Meilleur, K.G.; Traore, M.; Sangare, M.; Britton, A.; Landoure, G.; Coulibaly, S.; Niare, B.; Mochel, F.; La Pean, A.; Rafferty, I.; Watts, C.; Littleton-Kearney, M. T.; Blackstone, C.; Singleton, A.; Fischbeck, K.H.

2010-01-01

39

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

2011-01-01

40

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.

2013-01-01

41

A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)  

PubMed Central

We have identified a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the family in which the SPG10 locus was originally identified, at an invariant asparagine residue that, when mutated in orthologous kinesin heavy chain motor proteins, prevents stimulation of the motor ATPase by microtubule-binding. Mutation of kinesin orthologues in various species leads to phenotypes resembling hereditary spastic paraplegia. The conventional kinesin motor powers intracellular movement of membranous organelles and other macromolecular cargo from the neuronal cell body to the distal tip of the axon. This finding suggests that the underlying pathology of SPG10 and possibly of other forms of hereditary spastic paraplegia may involve perturbation of neuronal anterograde (or retrograde) axoplasmic flow, leading to axonal degeneration, especially in the longest axons of the central nervous system.

Reid, Evan; Kloos, Mark; Ashley-Koch, Allison; Hughes, Lori; Bevan, Simon; Svenson, Ingrid K.; Graham, Felicia Lennon; Gaskell, Perry C.; Dearlove, Andrew; Pericak-Vance, Margaret A.; Rubinsztein, David C.; Marchuk, Douglas A.

2002-01-01

42

Cholesterol Crystal Embolism and Delayed-onset Paraplegia after Thoracoabdominal Aneurysm Repair.  

PubMed

Postoperative paraplegia caused by ischemic injury of the spinal cord is the most disabling complication of thoracoabdominal surgery. We described the case of a 75-year-old patient who underwent a thoracoabdominal aneurysm repair (type IV aneurysm according to Crawford classification). The aorta clamping was done at the T11 level without specific medullary protection. The first postoperative week was uneventful. On the postoperative day 8, renal failure and livedo of the left lower limb occurred together with complete hypotonic paraplegia and severe sepsis. Exploratory laparotomy revealed a gangrenous cholecystitis, and skin biopsies showed cholesterol crystals embolisms in the hypodermis small arteries. The patient died on the postoperative day 28 from a multiorgan failure. In this case, paraplegia was due to cholesterol crystal embolism, which migrated secondarily after aortic clamping. PMID:24456864

Nasr, Bahaa; Schneider, Fabrice; Marques da Fonseca, Pedro; Gouny, Pierre

2014-07-01

43

Novel medical bathing with traditional Chinese herb formula alleviates paraplegia spasticity.  

PubMed

Paraplegia spasm is a kind of chronic disease which lacks effective treatment; the patients have to endure long-term pain, which is a tough problem for nursing practice. Lots of potential candidate medicines are under investigation, and a new Chinese herb formula is introduced in the current study. In the present study, we chose six different well-known Chinese herbs to form a formula, and boiled them into the water with an optimized ratio to make bath water; 80 paraplegic patients received this medicinal bath, and 80 patients received perfume water bath as placebo group. Compared with placebo control patients, the herb-treated patients have significant reduction in paraplegia spasm, visual analogue scale score, clinician global impression and sleep disorder. This novel six-combined formula traditional medicine could be beneficial for alleviating paraplegia spasm, but the underlying action mechanism deserves further study. PMID:24621269

Liu, Xin; Meng, Qingxi; Yu, Dapeng; Zhao, Xiwu; Zhao, Tingbao

2014-06-01

44

A case of effective cerebrospinal fluid drainage for paraplegia caused by acute aortic dissection.  

PubMed

A 65-year-old man with sudden back pain was transferred to our hospital by ambulance, who also complained of sensory and motor disorder of bilateral legs on arrival. The neurological disorder was gradually aggravated and paraplegia below the level of Th10 was manifested. Computed tomography demonstrated DeBakey IIIb acute aortic dissection; therefore, the paraplegia was thought to be due to spinal cord ischemia caused by the acute aortic dissection. Emergent cerebrospinal fluid drainage was performed, and it was very effective for the relief from paraplegia. The hospital course after the drainage was uneventful and he was discharged on the 39th day after the onset of symptoms. PMID:23555433

Hayatsu, Yukihiro; Nagaya, Koichi; Sakuma, Kei; Nagamine, Susumu

2011-01-01

45

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

1994-09-01

46

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.  

PubMed

Hereditary spastic paraplegias are neurodegenerative disorders characterized clinically by progressive spasticity of the lower limbs. They are inherited as autosomal dominant, autosomal recessive, and X-linked traits. Four Italian families with autosomal recessive pure spastic paraplegia are reported. We show evidence of linkage to the SPG5 locus on chromosome 8p and our data reduce the candidate interval for SPG5 to the11-cM interval spanned by D8S285 and D8S544. We also report the search for mutations in five genes located in the region and their exclusion as candidates for SPG5. PMID:14658060

Muglia, M; Criscuolo, C; Magariello, A; De Michele, G; Scarano, V; D'Adamo, P; Ambrosio, G; Gabriele, A L; Patitucci, A; Mazzei, R; Conforti, F L; Sprovieri, T; Morgante, L; Epifanio, A; La Spina, P; Valentino, P; Gasparini, P; Filla, A; Quattrone, A

2004-02-01

47

Medicolegal Corner: When minimally invasive thoracic surgery leads to paraplegia  

PubMed Central

A patient with mild cervical myelopathy due to multilevel ossification of the posterior longitudinal ligament (OPLL) initially underwent a cervical C3-T1 laminectomy with C2-T2 fusion utilizing lateral mass screws. The patient's new postoperative right upper extremity paresis largely resolved within several postoperative months. However, approximately 6 months later, the patient developed increased paraparesis attributed to thoracic OPLL and Ossification of the yellow ligament (OYL) at the T2-T5 and T10-T11 levels. The patient underwent simultaneous minimally invasive (MIS) unilateral MetRx approaches to both regions. Postoperatively, the patient was paraplegic and never recovered function. Multiple mistakes led to permanent paraplegia due to MIS MetRx decompressions for T2-T5 and T10-11 OPLL/OYL in this patient. First, both thoracic procedures should have been performed “open” utilizing a full laminectomy rather than MIS; adequate visualization would have likely averted inadvertent cord injury, and the resultant CSF leak. Second, the surgeon should have used an operating microscope. Third, the operation should have been monitored with somatosensory evoked potentials (SEP), motor evoked potentials (MEP), and EMG (electromyography). Fourth, preoperatively the patient should have received a 1-gram dose of Solumedrol for cord “protection”. Fifth, applying Gelfoam as part of the CSF leak repair is contraindicated (e.g. due to swelling in confined spaces- see insert). Sixth, if the patient had not stopped Excedrin prior to the surgery, the surgery should have been delayed to avoid the increased perioperative risk of bleeding/hematoma.

Epstein, Nancy E.

2014-01-01

48

Medicolegal Corner: When minimally invasive thoracic surgery leads to paraplegia.  

PubMed

A patient with mild cervical myelopathy due to multilevel ossification of the posterior longitudinal ligament (OPLL) initially underwent a cervical C3-T1 laminectomy with C2-T2 fusion utilizing lateral mass screws. The patient's new postoperative right upper extremity paresis largely resolved within several postoperative months. However, approximately 6 months later, the patient developed increased paraparesis attributed to thoracic OPLL and Ossification of the yellow ligament (OYL) at the T2-T5 and T10-T11 levels. The patient underwent simultaneous minimally invasive (MIS) unilateral MetRx approaches to both regions. Postoperatively, the patient was paraplegic and never recovered function. Multiple mistakes led to permanent paraplegia due to MIS MetRx decompressions for T2-T5 and T10-11 OPLL/OYL in this patient. First, both thoracic procedures should have been performed "open" utilizing a full laminectomy rather than MIS; adequate visualization would have likely averted inadvertent cord injury, and the resultant CSF leak. Second, the surgeon should have used an operating microscope. Third, the operation should have been monitored with somatosensory evoked potentials (SEP), motor evoked potentials (MEP), and EMG (electromyography). Fourth, preoperatively the patient should have received a 1-gram dose of Solumedrol for cord "protection". Fifth, applying Gelfoam as part of the CSF leak repair is contraindicated (e.g. due to swelling in confined spaces- see insert). Sixth, if the patient had not stopped Excedrin prior to the surgery, the surgery should have been delayed to avoid the increased perioperative risk of bleeding/hematoma. PMID:24843811

Epstein, Nancy E

2014-01-01

49

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia  

Microsoft Academic Search

Multiple sequence alignment has revealed the presence of a sequence domain of ?80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia. The domain, which corresponds to a slightly extended version of the recently described ESP domain of unknown function, was also identified in VPS4, SKD1, RPK118, and SNX15, all of which have a well established

Francesca D Ciccarelli; Christos Proukakis; Heema Patel; Harold Cross; Shakil Azam; Michael A Patton; Peer Bork; Andrew H Crosby

2003-01-01

50

Spastic paraplegia associated with addison's disease: Adult variant of adreno-leukodystrophy  

Microsoft Academic Search

Clinical and pathological features of an adult variant of adreno-leukodystrophy (ALD) are presented. A male with clinical and laboratory signs of Addison's disease (AD) developed at age 22 a slowly progressing paraplegia with slight sensory deficits in both legs and bladder and sphincter dysfunctions; he died at age 24 in an AD crisis. Autopsy revealed hyperplasia of lymphatic tissues, lymphocytic

H. Budka; E. Sluga; W.-D. Heiss

1976-01-01

51

Striatal Dopaminergic Functioning in Patients with Sporadic and Hereditary Spastic Paraplegias with Parkinsonism  

PubMed Central

Sporadic spastic paraplegia (SSP) and hereditary spastic paraplegia (HSP) belong to a clinical and genetically heterogeneous group of disorders characterized by progressive spasticity and weakness in the lower extremities. The symptoms are associated with pyramidal tract dysfunction and degeneration of the corticospinal tracts. Parkinsonism is uncommon in SSP/HSP patients. However, both disorders are associated with damage to the nigrostriatal dopaminergic system. In the present study, the clinical features of patients with SSP/HSP were investigated, and nigrostriatal dopaminergic binding potential was assessed using dopamine transporter (DAT) single-photon emission computer tomography (SPECT). Nine patients with spastic paraplegia participated in the present study. The subjects underwent DAT SPECT using the agent [2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo[3,2,1]oct-2-yl]methyl](2-mercaptoethyl)amino]ethyl]amino]ethanethiolato (3-)-N2,N20,S2,S20]oxo-[IR-(exo-exo)])-[99mTc]technetium ([99mTc]TRODAT-1). The [99mTc]TRODAT-1 SPECT images of five patients appeared normal, whereas the images of four patients revealed reduced striatal ligand uptake. Among the four patients with reduced uptake, two had parkinsonism, and one exhibited periodic limb movements and restless leg syndrome. Our DAT SPECT imaging study shows that reduced DAT density may be observed in patients with parkinsonism. The results of the present study offer an explanation for the spectrum of spastic paraplegia symptoms and the progression of the disorder.

Kim, Ji Seon; Kim, Jong Min; Kim, Yu Kyeong; Kim, Sang Eun; Yun, Ji Young

2013-01-01

52

Striatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism.  

PubMed

Sporadic spastic paraplegia (SSP) and hereditary spastic paraplegia (HSP) belong to a clinical and genetically heterogeneous group of disorders characterized by progressive spasticity and weakness in the lower extremities. The symptoms are associated with pyramidal tract dysfunction and degeneration of the corticospinal tracts. Parkinsonism is uncommon in SSP/HSP patients. However, both disorders are associated with damage to the nigrostriatal dopaminergic system. In the present study, the clinical features of patients with SSP/HSP were investigated, and nigrostriatal dopaminergic binding potential was assessed using dopamine transporter (DAT) single-photon emission computer tomography (SPECT). Nine patients with spastic paraplegia participated in the present study. The subjects underwent DAT SPECT using the agent [2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo[3,2,1]oct-2-yl]methyl](2-mercaptoethyl)amino]ethyl]amino]ethanethiolato (3-)-N2,N20,S2,S20]oxo-[IR-(exo-exo)])-[(99)mTc]technetium ([(99)mTc]TRODAT-1). The [(99)mTc]TRODAT-1 SPECT images of five patients appeared normal, whereas the images of four patients revealed reduced striatal ligand uptake. Among the four patients with reduced uptake, two had parkinsonism, and one exhibited periodic limb movements and restless leg syndrome. Our DAT SPECT imaging study shows that reduced DAT density may be observed in patients with parkinsonism. The results of the present study offer an explanation for the spectrum of spastic paraplegia symptoms and the progression of the disorder. PMID:24265532

Kim, Ji Seon; Kim, Jong Min; Kim, Yu Kyeong; Kim, Sang Eun; Yun, Ji Young; Jeon, Beom S

2013-11-01

53

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

PubMed Central

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.

2013-01-01

54

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

2008-01-01

55

Clinical Heterogeneity of Familial Spastic Paraplegia Linked to Chromosome 2p21  

Microsoft Academic Search

The clinical features of four families with autosomal dominant spastic paraparesis (FSP) are described, along with the results of linkage analysis to markers from the regions of chromosomes 2, 14, and 15 which are known to contain spastic paraplegia genes. All families had ‘pure’ spastic paraparesis (FSP), but the severity of symptoms varied widely among families, and other mild neurologic

M. A. Nance; W. A. Raabe; H. Midani; E. H. Kolodny; W. S. David; L. Megna; M. A. Pericak-Vance; J. L. Haines

1998-01-01

56

Paraplegia after Gastrectomy in a Patient with Cervical Disc Herniation: A Case Report and Review of Literature  

PubMed Central

Paraplegia is a rare postoperative complication. We present a case of acute paraplegia after elective gastrectomy surgery because of cervical disc herniation. The 73-year-old man has the medical history of cervical spondylitis with only symptom of temporary pain in neck and shoulder. Although the patient's neck was cautiously preserved by using the Discopo, an acute paraplegia emerged at about 10 hours after the operation. Severe compression of the spinal cord by herniation of the C4-C5 cervical disc was diagnosed and emergency surgical decompression was performed immediately. Unfortunately the patient showed limited improvement in neurologic deficits even after 11 months.

Zhang, Qingfu; Jiang, Wei; Zhou, Quanhong; Wang, Guangyan; Zhao, Linlin

2014-01-01

57

Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI  

Microsoft Academic Search

Introduction  Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a complicated form of autosomal-recessive hereditary spastic paraplegia. Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia. Diagnostic MRI findings include thinning of the corpus callosum and non-progressive white matter (WM) alterations.Methods  To study the extent of axonal involvement, we performed localized proton magnetic resonance spectroscopy (MRS) of the cerebral

Steffi Dreha-Kulaczewski; Peter Dechent; Gunther Helms; Jens Frahm; Jutta Gärtner; Knut Brockmann

2006-01-01

58

Progressive spastic paraplegia: the combination of Scheuermann's disease, a short-segmented kyphosis and dysplastic thoracic spinous processes  

Microsoft Academic Search

Study design:Case report.Objective:To describe a rare case of paraplegia in a patient with Scheuermann's disease and dysplastic thoracic spinous processes.Setting:Spinal Cord Injury Center, Orthopaedic University Hospital Heidelberg, Heidelberg, Germany.Clinical presentation:The authors report on a 15-year-old boy with progressive incomplete spastic paraplegia presenting segmental dysplastic thoracic spinous processes and Scheuermann's disease. The magnetic resonance imaging showed a kyphotic angulation at T

C Putz; I Stierle; T Grieser; G Mohr; H J Gerner; C H Fürstenberg; B Wiedenhöfer

2009-01-01

59

Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia  

SciTech Connect

Familial spastic paraplegia (FSP), characterized by progressive spasticity of the lower extremities, is in its {open_quotes}pure{close_quotes} form generally of autosomal dominant inheritance pattern. Hazen et al. reported tight linkage of a large FSP family to the highly polymorphic microsatellite marker D14S269 with z ({sub {theta}}) = 8.49 at {sub {theta}} = 0.00. They further demonstrated evidence for locus heterogeneity when they showed that 2 FSP families were unlinked to this region. We have subsequently studied 4 FSP families (3 American, one British) and excluded the disease locus in these families for approximately 30 cM on either side of D14S269, thereby confirming evidence for locus heterogeneity within the spastic paraplegia diagnostic classification. 28 refs., 2 figs., 4 tabs.

Speer, M.C.; Gaskell, P.C.; Robinson, L.C. [Duke Univ. Medical Center, Durham, NC (United States)] [and others

1995-08-14

60

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

2010-01-01

61

PLP1 -related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2  

Microsoft Academic Search

Pelizaeus-Merzbacher disease (PMD) and its allelic disorder, spastic paraplegia type 2 (SPG2), are among the best-characterized dysmyelinating leukodystrophies of the central nervous system (CNS). Both PMD and SPG2 are caused by mutations in the proteolipid protein 1 ( PLP1) gene, which encodes a major component of CNS myelin proteins. Distinct types of mutations, including point mutations and genomic duplications and

Ken Inoue

2005-01-01

62

An extensive intramedullary epidermoid cyst with a longstanding history of paraplegia: a case report.  

PubMed

Spinal cord tumors still challenge clinicians because of their neurological deterioration before and after surgery. Epidermoid cyst is one of the rare intramedullary lesions producing neurological deterioration in cervical spine and it has been reported four times in the literature. We report the case of an intramedullary epidermoid cyst showing a longstanding history of paraplegia as well as recent slowly progressive tingling paresthesia extending from C4 to T10 and weakness in both hands. PMID:22777928

Yoon, Sang Hoon; Jahng, Tae-Ahn; Kim, Ki-jeong; Chung, Chun Kee; Kim, Hyun Jib

2013-12-01

63

Strümpell's familial spastic paraplegia: an electrophysiological demonstration of selective central distal axonopathy.  

PubMed

Three patients with autosomal dominant Strümpell's familial spastic paraplegia (SFSP) were evaluated by means of somatosensory evoked potentials (SEPs) from upper and lower limb and determination of sural nerve conduction velocity. Findings of normal sural nerve conduction but reduced amplitude and poor definition of SEPs with normal latencies on peroneal nerve stimulation support a pattern of central nervous system degeneration characterized by a selective involvement of centrally directed axons within the gracile fasciculi. PMID:2431877

Uncini, A; Treviso, M; Basciani, M; Gambi, D

1987-02-01

64

Linkage studies of X-linked recessive spastic paraplegia using DNA probes  

Microsoft Academic Search

A family with six males affected by X-linked spastic paraplegia (McKusick No. 31290) is described. The disease was accompanied by mental retardation in all patients (severe in four cases with IQ of 40) and by absence of extensor pollicis longus (in four cases). The following X chromosome DNA probes were used in linkage studies: 782, RC8, 99-6, 754, OTC, L128,

S. Kenwrick; V. Ionasescu; G. Ionasescu; Ch. Searby; A. King; M. Dubowitz; K. E. Davies

1986-01-01

65

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease  

Microsoft Academic Search

Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. We found that patients from a chromosome 16q24.3–linked HSP family are homozygous for a 9.5 kb deletion involving a gene encoding a novel protein, named Paraplegin. Two additional Paraplegin mutations, both resulting in a frameshift, were found in a

Giorgio Casari; Maurizio De Fusco; Sonia Ciarmatori; Massimo Zeviani; Marina Mora; Patricio Fernandez; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; Roberto Marconi; Alexandre Dürr; Bertrand Fontaine; Andrea Ballabio

1998-01-01

66

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.  

PubMed

Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders, clinically classified in pure and complex forms. Genetically, more than 70 different forms of spastic paraplegias have been characterized. A subgroup of complicate recessive forms has been distinguished for the presence of thin corpus callosum and white matter lesions at brain imaging. This group includes several genetic entities, but most of the cases are caused by mutations in the KIAA1840 (SPG11) and ZFYVE26 genes (SPG15). We studied a cohort of 61 consecutive patients with complicated spastic paraplegias, presenting at least one of the following features: mental retardation, thin corpus callosum and/or white matter lesions. DNA samples were screened for mutations in the SPG11/KIAA1840, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG48/AP5Z1 and SPG54/DDHD2 genes by direct sequencing. Sequence variants were found in 30 of 61 cases: 16 patients carried SPG11/KIAA1840 gene variants (26.2%), nine patients carried SPG15/ZFYVE26 variants (14.8%), three patients SPG35/FA2H (5%), and two patients carried SPG48/AP5Z1 gene variants (3%). Mean age at onset was similar in patients with SPG11 and with SPG15 (range 11-36), and the phenotype was mostly indistinguishable. Extrapyramidal signs were observed only in patients with SPG15, and epilepsy in three subjects with SPG11. Motor axonal neuropathy was found in 60% of cases with SPG11 and 70% of cases with SPG15. Subjects with SPG35 had intellectual impairment, spastic paraplegia, thin corpus callosum, white matter hyperintensities, and cerebellar atrophy. Two families had a late-onset presentation, and none had signs of brain iron accumulation. The patients with SPG48 were a 5-year-old child, homozygous for a missense SPG48/AP5Z1 variant, and a 51-year-old female, carrying two different nonsense variants. Both patients had intellectual deficits, thin corpus callosum and white matter lesions. None of the cases in our cohort carried mutations in the SPG21/ACP33 and SPG54/DDH2H genes. Our study confirms that the phenotype of patients with SPG11 and with SPG15 is homogeneous, whereas cases with SPG35 and with SPG48 cases present overlapping features, and a broader clinical spectrum. The large group of non-diagnosed subjects (51%) suggests further genetic heterogeneity. The observation of common clinical features in association with defects in different causative genes, suggest a general vulnerability of the corticospinal tract axons to a wide spectrum of cellular alterations. PMID:24833714

Pensato, Viviana; Castellotti, Barbara; Gellera, Cinzia; Pareyson, Davide; Ciano, Claudia; Nanetti, Lorenzo; Salsano, Ettore; Piscosquito, Giuseppe; Sarto, Elisa; Eoli, Marica; Moroni, Isabella; Soliveri, Paola; Lamperti, Elena; Chiapparini, Luisa; Di Bella, Daniela; Taroni, Franco; Mariotti, Caterina

2014-07-01

67

Bilateral ischemic lumbosacral plexopathy from chronic aortoiliac occlusion presenting with progressive paraplegia.  

PubMed

Spinal cord ischemia is rare but causes significant morbidity and mortality. Spinal cord ischemia has been reported after open and endovascular interventions of the thoracic and abdominal aorta, and, rarely, acute occlusion of aorta from in situ thrombosis or acute embolic occlusion. Acute interruption of the critical blood supply to the spinal cord or root contributes to this devastating neurologic deficit. However, gradually worsening lumbosacral plexopathy and consequent paraplegia related to chronic aortic occlusion is extremely rare. We present a case of a 58-year-old man with progressive lower limb paralysis from atherosclerotic aortoiliac occlusion without history of aortic surgery or evidence of thromboembolism. PMID:23726871

Kim, Hyangkyoung; Kang, Si Hyun; Kim, Don-Kyu; Seo, Kyung Mook; Kim, Tha Joo; Hong, Joonhwa

2014-01-01

68

Relation of heart rate recovery to heart rate variability in persons with paraplegia  

Microsoft Academic Search

Purpose  Heart rate recovery (HRR) after treadmill exercise testing is an index of cardiac autonomic activity in non-disabled persons,\\u000a but it is unknown if this is also the case in individuals with spinal cord injury (SCI). We investigated the relationship\\u000a between HRR after maximal arm exercise testing and resting autonomic activity in persons with paraplegia.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  A total of 17 (male n = 9,

Sae Young Jae; Kevin S. Heffernan; Miyoung Lee; Bo Fernhall

2011-01-01

69

Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.  

PubMed

Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral lower limb spasticity and referred to as a form of hereditary spastic paraplegia. Additional disease features may also be observed as part of a more complex phenotype. Many different mutations have already been identified, but no genotype-phenotype correlations have been found so far. From a total of almost 800 patients referred for testing, we identified 60 patients with mutations in the SPG7 gene. We identified 14 previously unreported mutations and detected a high recurrence rate of several earlier reported mutations. We were able to collect detailed clinical data for 49 patients, who were ranked based on a pure versus complex phenotype, ataxia versus no ataxia and missense versus null mutations. A generally complex phenotype occurred in 69% of all patients and was associated with a younger age at onset (trend with P = 0.07). Ataxia was observed in 57% of all patients. We found that null mutations were associated with the co-occurrence of cerebellar ataxia (trend with P = 0.06). The c.1409 G > A (p.Arg470Gln) mutation, which was found homozygously in two sibs, was associated with a specific complex phenotype that included predominant visual loss due to optical nerve atrophy. Neuropathology in one of these cases showed severe degeneration of the optic system, with less severe degeneration of the ascending tracts of the spinal cord and cerebellum. Other disease features encountered in this cohort included cervical dystonia, vertical gaze palsy, ptosis and severe intellectual disability. In this large Dutch cohort, we seem to have identified the first genotype-phenotype correlation in spastic paraplegia type 7 by observing an association between the cerebellar phenotype of spastic paraplegia type 7 and SPG7 null alleles. An overlapping phenotypic presentation with its biological counterpart AFG3L2, which when mutated causes spinocerebellar ataxia type 28, is apparent and possibly suggests that abnormal levels of the SPG7 protein impact the function of the mitochondrial ATPases associated with diverse cellular activities-protease complex (formed by SPG7 and AFG3L2) in the cerebellum. In addition, a missense mutation in exon 10 resulted in predominant optical nerve atrophy, which might suggest deleterious interactions of this SPG7 variant with its substrate OPA1, the mutated gene product in optic atrophy type 1. Functional studies are required to further investigate these interactions. PMID:22964162

van Gassen, Koen L I; van der Heijden, Charlotte D C C; de Bot, Susanne T; den Dunnen, Wilfred F A; van den Berg, Leonard H; Verschuuren-Bemelmans, Corien C; Kremer, H P H; Veldink, Jan H; Kamsteeg, Erik-Jan; Scheffer, Hans; van de Warrenburg, Bart P

2012-10-01

70

Paraplegia caused by posture during MRI in a patient with cervical disk herniation.  

PubMed

A 48-year-old man presented with numbness in the lower left extremity of 4 months' duration. One month earlier, he presented to an orthopedic clinic and magnetic resonance imaging (MRI) revealed cervical disk herniation. Because the pain did not subside, he visited the clinic again and MRI was performed. His neck was slightly extended and fixed to the headrest of the MRI instrument. Because of the posture of his cervical spine, he suffered severe pain in the scapular region during the MRI. After 15 minutes the pain was unbearable and the MRI examination was aborted. As the patient tried to descend from the MRI table, he was unable to move his bilateral lower extremities. No muscle contraction was observed in his lower limbs. Following MRI with flexion posture of the cervical spine, he was diagnosed with paraplegia caused by cervical disk herniation. Emergency surgery consisting of anterior decompression and fusion was performed. The patient showed good neurological recovery. Three weeks postoperatively, the patient could walk without assistance and he was discharged. The extension posture of the cervical spine during MRI was considered to be the cause of acute paraplegia in this patient. Care should be taken with the posture of the cervical spine, when performing MRI in patients with cervical disk herniation. Extended posture of the cervical spine during MRI may lead to acute neurological deterioration. PMID:20806756

Kato, Yoshihiko; Nishida, Norihiro; Taguchi, Toshihiko

2010-06-01

71

[A case of autosomal dominant, pure form spastic paraplegia with thinning of the corpus callosum].  

PubMed

Autosomal dominant hereditary spastic paraplegia (HSP) is genetically classified into three types, all of which are characterized by insidiously progressive spasticity of the lower extremities. Patients with a complicated form of autosomal recessive HSP associated with hypoplasia of the corpus callosum have been reported by Iwabuchi et al. Here we report a 64-year-old patient with a pure form of autosomal dominant HSP with thinning of the corpus callosum. He had been well until 12 years of age, when spasticity and weakness of the lower extremities began to develop. His symptoms gradually worsened and he had difficulty in walking at the age of 44. When he was 56 years old, he visited our hospital. Eleven family members over five generations have been affected, and anticipation, i.e., an apparent decrease in age of onset, has been observed. On admission, he had mild cataracts, equinovarus and pes cavus, and neurological examination revealed spastic paraplegia. However, the intelligence test was normal, and nystagmus, ataxia of the extremities, involuntary movement, orthostatic hypotension or urinary disturbance was not observed. Trinucleotide repeat diseases, such as Huntington's disease, spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, Machado-Joseph disease and dentatorubral-pallidoluysian atrophy, were excluded by DNA analysis. Brain MRI at the age of 64 revealed marked thinning of the corpus callosum. We considered this patient had a pure form of HSP. However, thinning of the corpus callosum has never been reported in autosomal dominant HSP. PMID:9805990

Tomiyasu, H; Hayashi, R; Watanabe, R; Honda, M; Yoshii, F

1998-05-01

72

A Pilot Study To Assess the Relationships among Coping, Self-Efficacy and Functional Improvement in Men with Paraplegia.  

ERIC Educational Resources Information Center

A study of four men with paraplegia admitted to a rehabilitation ward investigated the relationship between levels of coping, self-efficacy, and improvement in rehabilitation performance. The subjects using more coping strategies had more rehabilitation improvement after the first month and those using problem-oriented coping strategies showed…

Lou, M. F.; And Others

1997-01-01

73

Vertebra Plana with Paraplegia in a Middle-Aged Woman Caused by B-Cell Lymphoma: A Case Report  

PubMed Central

Vertebra plana is a rare presentation of spinal lymphoma. When radiological picture of a patient of paraplegia presents vertebra plana, diagnosis becomes a challenge. In a developing country like India tuberculosis should also be a consideration. Even histology sometimes fails to conclude a diagnosis. Immunohistochemistry is of immense help in clinching a diagnosis.

Zahid, Mohd.; Ahamed, Sohail; Jain, Jitesh Kumar; Chabra, Ravish

2012-01-01

74

Antero-lateral decompression as a treatment of paraplegia following vertebral fracture in the thoraco-lumbar spine  

Microsoft Academic Search

Thirty-two patients with paraplegia following vertebral fracture were treated by anterolateral decompression operation. In all cases there was a compression of the spinal cord from the front. Seven patients, three with complete motor paralysis and incomplete sensory loss and four with incomplete motor paralysis and incomplete sensory loss, made a complete recovery. Ten patients made a good recovery, and seven

E. B. Riska

1977-01-01

75

Conversion disorder presenting in a patient with an implantable morphine pump and an epidural abscess resulting in paraplegia  

Microsoft Academic Search

Conversion disorders are symptoms or deficits affecting voluntary motor or sensory function that suggest a neurological or medical condition. The psychological symptoms associated with the medical condition must be preceded by conflict or other stressors. We present an individual who developed conversion disorder and paraplegia secondary to a sterile epidural abscess near the tip of her surgically implanted, epidural morphine

Michael G. Shell; H. Lee Mitchell; Michael W. Loes; Andrew P. Beldn

1997-01-01

76

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.

2013-01-01

77

Mutation Screening of Spastin, Atlastin, and REEP1 in Hereditary Spastic Paraplegia  

PubMed Central

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. Over 40 chromosomal loci have been identified for autosomal dominant, recessive, and X-linked HSP. Mutations in the genes atlastin, spastin and REEP1 are estimated to account for up to 50% of autosomal dominant HSP and currently guide the molecular diagnosis of HSP. Here we report the mutation screening results of 120 HSP patients from North America for spastin, atlastin, and REEP1, with the latter one partially reported previously. We identified mutations in 36.7% of all tested HSP patients and describe 20 novel changes in spastin and atlastin. Our results add to a growing number of HSP disease associated variants and confirm the high prevalence of atlastin, spastin, and REEP1 mutations in the HSP patient population.

McCorquodale, Donald S.; Ozomaro, Uzoezi; Huang, Jia; Montenegro, Gladys; Kushman, Arielle; Citrigno, Luigi; Price, Justin; Speziani, Fiorella; Pericak-Vance, Margaret A.; Zuchner, Stephan

2010-01-01

78

Acute painful paraplegia in a 49-year-old man with allergic asthma.  

PubMed

We present a case of a 49-year-old man, with a 10-year history of bronchial asthma and nasal polyposis, who developed acutely painful paraplegia and paresthesias. Laboratory data showed elevated blood creatine kinase levels and myoglobinuria, which were diagnostic for rhabdomyolysis but only partially explained the neurological deficit. Electrophysiological studies revealed a sensorimotor neuropathy of multiple mononeuritis type. The patient also had leucocytosis with marked eosinophilia and antineutrophil cytoplasmic autoantibodies. Bronchial biopsies showed inflammatory infiltrates with a prevalence of eosinophils. All these findings led us to diagnose eosinophilic granulomatosis with polyangiitis, a systemic vasculitis with almost constant respiratory tract involvement and good response to corticosteroid treatment. This can also affect other organs including the nervous system, while muscular involvement is unusual. Some diseases deserve attention in differential diagnosis. Histology can support the diagnosis which remains essentially clinical. Steroid sparing agents/immunosuppressants are suggested for extensive disease. PMID:24980994

Sorino, Claudio; Agati, Sergio; Milani, Giuseppe; Maspero, Annarosa

2014-01-01

79

[Familial spastic paraplegia with amyotrophy. Clinical, electromyographic, histochemical study and microdissection].  

PubMed

Four cases of familial spastic paraplegia with amyotrophy in siblings from a consanguineous married are reported. The routine laboratory examination were normal. The electromiography and muscle biopsy processed by histochemistry showed signs of denervation with reinervation. The motor nerve conduction velocity was decreased in the peroneal nerve in 3 cases. The teased fiber preparation of sural nerves was abnormal in four cases. It was found increased of C, D and G fibers suggesting demyelination with secondary remyelination. The authors believe the abnormalities found could be due the distal axonal degeneration, with secondary regeneration and suggest the hypothesis that the fact is an axoplasmic flow defect in the central and peripheral nervous system. PMID:91360

Werneck, L C; Sanches, M C

1979-06-01

80

Paraplegia due to recurrent multiple hydatid cyst of the spine: A case report  

PubMed Central

Recurrence after surgical treatment of hydatid cyst of the spine is extremely common. Preexisting fibrosis, fragility of the cyst wall, confluent cysts and proximity to vital structures makes radical excision difficult and repeated recurrences are inevitable. This case report describes a recurrent hydatid cyst presenting as three separate cysts in the dorsal spine in a middle-aged male. The extradural cyst caused paraplegia. The extraspinal cyst presented as an extrapleural mass in relation with the eighth, ninth and the tenth ribs near the costo-vertebral junction. The three cysts were resected en masse. Complete neurological recovery occurred with no recurrence at four years follow-up. Resection of the hydatid cyst en masse offers the best chance of cure and must be attempted in all cases. A prolonged chemotherapy should be administered in all cases.

Chaudhary, Kshitij; Bapat, Mihir; Badve, Siddharth

2008-01-01

81

A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.  

PubMed

Hereditary spastic paraplegia (HSP) type 2 is a proteolipid protein (PLP1)-related genetic disorder that is characterized by dysmyelination of the central nervous system resulting primarily in limb spasticity, cognitive impairment, nystagmus, and spastic urinary bladder of varying severity. Previously reported PLP1 mutations include duplications, point mutations, or whole gene deletions with a continuum of phenotypes ranging from severe Pelizaeus-Merzbacher disease (PMD) to uncomplicated HSP type 2. In this manuscript we report a novel PLP1 missense mutation (c.88G>C) in a family from Argentina. This mutation is in a highly conserved transmembrane domain of PLP1 and the mutant protein was found to be retained in the endoplasmic reticulum when expressed in vitro. Due to the variable expressivity that characterizes these disorders our report contributes to the knowledge of genotype-phenotype correlations of PLP1-related disorders. PMID:24103481

Noetzli, Leila; Sanz, Pablo G; Brodsky, Gary L; Hinckley, Jesse D; Giugni, Juan C; Giannaula, Rolando J; Gonzalez-Alegre, Pedro; Di Paola, Jorge

2014-01-01

82

Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia.  

PubMed

Conduction of the central motor pathways (CMCT) by magnetic stimulation of the motor cortex (TMS) was performed in 17 patients with hereditary motor sensory neuropathy (HMSN) and 2 siblings with hereditary spastic paraplegia (HSP). CMCT was prolonged in two patients with HMSN I with associated pyramidal features and in two subjects with HMSN II without clinical pyramidal signs. CMCT may be abnormal in HMSN due to central motor pathways involvement or altered spinal excitability with increased synaptic delay. CMCT was normal in the upper limbs in patients with HSP but increased in the legs. Diagnostic yield of TMS increased in less disabled cases with HSP when selective conduction at the spinal level (C7-S1) was calculated. Abnormal spinal conduction in HSP is consistent with degeneration of the crossed corticospinal tracts at the thoracic level found in neuropathologic observations. PMID:10499202

Cruz Martínez, A; Tejada, J

1999-09-01

83

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.  

PubMed

Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby paraplegin mutations cause disease is unknown. We studied two female and two male adult patients from two Norwegian families with a combination of progressive external ophthalmoplegia and spastic paraplegia. Sequencing of SPG7 revealed a novel missense mutation, c.2102A>C, p.H 701P, which was homozygous in one family and compound heterozygous in trans with a known pathogenic mutation c.1454_1462del in the other. Muscle was examined from an additional, unrelated adult female patient with a similar phenotype caused by a homozygous c.1047insC mutation in SPG7. Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. Molecular studies in single, microdissected fibres showed multiple mitochondrial DNA deletions segregating at high levels (38-97%) in respiratory deficient fibres. Our findings demonstrate for the first time that paraplegin mutations cause accumulation of mitochondrial DNA damage and multiple respiratory chain deficiencies. While paraplegin is not known to be directly associated with the mitochondrial nucleoid, it is known to process other mitochondrial proteins and it is possible therefore that paraplegin mutations lead to mitochondrial DNA deletions by impairing proteins involved in the homeostasis of the mitochondrial genome. These studies increase our understanding of the molecular pathogenesis of SPG7 mutations and suggest that SPG7 testing should be included in the diagnostic workup of autosomal recessive, progressive external ophthalmoplegia, especially if spasticity is present. PMID:24466038

Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbjørn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal M E; Tzoulis, Charalampos

2014-01-01

84

Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia.  

PubMed

Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower extremity weakness and spasticity. HSP pathology involves axonal degeneration that is most pronounced in the terminal segments of the longest descending (pyramidal) and ascending (dorsal columns) tracts. In this study, we compared spinal cord magnetic resonance imaging (MRI) in 13 HSP patients with four different types of autosomal dominant hereditary spastic paraplegia (SPG3A, SPG4, SPG6, and SPG8) with age-matched control subjects. The cross-section area of HSP subjects at cervical level C2 was 59.42 +/- 12.57 mm2 and at thoracic level T9 was 28.58 +/- 5.25 mm2. Both of these values were less than in the healthy controls (p < 0.001). The degree of cord atrophy was more prominent in patients with SPG6 and SPG8 who had signs of severe cord atrophy (47.60 +/- 6.58 mm2 at C2, 21.40 +/- 2.4 mm2 at T9) than in subjects with SPG3 and SPG4 (66.0 +/- 8.94 mm2 at C2, p < 0.02; 31.75 +/- 2.76 mm2 at T9, p < 0.001). These observations indicate that spinal cord atrophy is a common finding in the four genetic types of HSP. Spinal cord atrophy was more severe in SPG6 and SPG8 HSP subjects than in other types of HSP we studied. This may suggest a different disease mechanism with more prominent axonal degeneration in these two types of HSP when compared with HSP due to spastin and atlastin mutations. PMID:16143870

Hedera, P; Eldevik, O P; Maly, P; Rainier, S; Fink, J K

2005-10-01

85

Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions  

PubMed Central

Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby paraplegin mutations cause disease is unknown. We studied two female and two male adult patients from two Norwegian families with a combination of progressive external ophthalmoplegia and spastic paraplegia. Sequencing of SPG7 revealed a novel missense mutation, c.2102A>C, p.H 701P, which was homozygous in one family and compound heterozygous in trans with a known pathogenic mutation c.1454_1462del in the other. Muscle was examined from an additional, unrelated adult female patient with a similar phenotype caused by a homozygous c.1047insC mutation in SPG7. Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. Molecular studies in single, microdissected fibres showed multiple mitochondrial DNA deletions segregating at high levels (38–97%) in respiratory deficient fibres. Our findings demonstrate for the first time that paraplegin mutations cause accumulation of mitochondrial DNA damage and multiple respiratory chain deficiencies. While paraplegin is not known to be directly associated with the mitochondrial nucleoid, it is known to process other mitochondrial proteins and it is possible therefore that paraplegin mutations lead to mitochondrial DNA deletions by impairing proteins involved in the homeostasis of the mitochondrial genome. These studies increase our understanding of the molecular pathogenesis of SPG7 mutations and suggest that SPG7 testing should be included in the diagnostic workup of autosomal recessive, progressive external ophthalmoplegia, especially if spasticity is present.

Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong; Misceo, Doriana; Selmer, Kaja Kristine; Holmgren, Asbj?rn; Frengen, Eirik; Bindoff, Laurence; Tallaksen, Chantal M. E.; Tzoulis, Charalampos

2014-01-01

86

Disturbed Mental Imagery of Affected Body-Parts in Patients with Hysterical Conversion Paraplegia Correlates with Pathological Limbic Activity  

PubMed Central

Patients with conversion disorder generally suffer from a severe neurological deficit which cannot be attributed to a structural neurological damage. In two patients with acute conversion paraplegia, investigation with functional magnetic resonance imaging (fMRI) showed that the insular cortex, a limbic-related cortex involved in body-representation and subjective emotional experience, was activated not only during attempt to move the paralytic body-parts, but also during mental imagery of their movements. In addition, mental rotation of affected body-parts was found to be disturbed, as compared to unaffected body parts or external objects. fMRI during mental rotation of the paralytic body-part showed an activation of another limbic related region, the anterior cingulate cortex. These data suggest that conversion paraplegia is associated with pathological activity in limbic structures involved in body representation and a deficit in mental processing of the affected body-parts.

Saj, Arnaud; Raz, Noa; Levin, Netta; Ben-Hur, Tamir; Arzy, Shahar

2014-01-01

87

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

2012-01-01

88

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia  

Microsoft Academic Search

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs. Among the four loci causing AD-HSP identified so far, the SPG4 locus at chromosome 2p21–p22 has been shown to account for 40–50% of all AD-HSP families. Using a positional cloning strategy based on obtaining sequence of the entire SPG4 interval,

Nùria Fonknechten; Delphine Mavel; Caroline Paternotte; Delphine Samson; François Artiguenave; Claire-Sophie Davoine; Corinne Cruaud; Alexandra Dürr; Patrick Wincker; Philippe Brottier; Laurence Cattolico; Valérie Barbe; Jean-Marc Burgunder; Jean-François Prud'homme; Alexis Brice; Bertrand Fontaine; Roland Heilig; Jean Weissenbach; Jamilé Hazan

1999-01-01

89

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia  

Microsoft Academic Search

Silver syndrome (SS) is a complicated form of hereditary spastic paraplegia associated with distal wasting of the small muscles of the hands. We have previously described a large kindred with SS and mapped a genetic locus (SPG17) to chromosome 11q12-q14. In the current study we analyse the clinical phenotype and perform linkage analysis in three new SS families. In addition

Thomas T. Warner; Heema Patel; Christos Proukakis; Johanna A. Reed; Laura McKie; Adrian Wills; Michael A. Patton; Andrew H. Crosby

2004-01-01

90

Grade-III Paraplegia in Spinal Tuberculosis: Follow up of A Case Report and Review of Literature  

PubMed Central

This is a case report of spinal tuberculosis which could not be diagnosed in the early stages. Individuals who work in hospital settings and suffer from psychological stress need to be aware of the various hospital acquired infections and consequences of late diagnoses. A CT scan is indicated to rule out the spinal involvement, at the beginning of a severe backache, which does not respond to painkillers, rest, and if X-ray is normal. It is of immense help and much of the problems like paraplegia and morbidity which are associated with this kind of extra - pulmonary tuberculosis, could be avoided. Once paraplegia sets in, the response to treatment as well as the recovery are slow. The cost of CT Scan or MRI (Magnetic Resonance Imaging), no doubt, is very high, which ranges from Rs.4,500/- to Rs.5,000/- for an average Indian, but which goes a long way in reducing the debilitating conditions, excruciating pain and confinement to bed which occur during the spinal tuberculosis. Prolonged follow-up is essential in cases of Pott’s disease, as it was in the presented case. A strict treatment schedule of 18 months, combined with good nutritional support and bed rest, with spinal braces, is adequate for recovery from immobility and paraplegia caused by an advanced stage of spinal infection. This case therefore, supports an approach of nonoperative treatment over surgery, where the patient had progressive paralysis.

Hussain, Tahziba

2014-01-01

91

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.

2013-01-01

92

A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.  

PubMed

Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurological disorders. Insidiously progressive spastic weakness of the lower extremities is the common criterion in all forms described. Clinically, HSP is differentiated into pure (uncomplicated) and complex (complicated) forms. While pure HSP is predominantly characterized by signs and symptoms of pyramidal tract dysfunction, additional neurological and non-neurological symptoms occur in complicated forms. Autosomal dominant, autosomal recessive, and X-linked modes of inheritance have been described and at least 48 subtypes, termed SPG1-48, have been genetically defined. Although in autosomal dominant HSP families 50-60% of etiologies can be established by genetic testing, genotype predictions based on the phenotype are limited. In order to realize high-throughput genotyping for dominant HSP, we designed a resequencing microarray for six autosomal dominant genes on the Affymetrix CustomSEQ array platform. For validation purposes, 10 previously Sanger sequenced patients with autosomal dominant HSP and 40 positive controls with known mutations in ATL1, SPAST, NIPA1, KIF5A, and BSCL2 (32 base exchanges, eight small indels) were resequenced on this array. DNA samples of 45 additional patients with AD spastic paraplegia were included in the study. With two different sequencing analysis software modules (GSEQ, SeqC), all missense/nonsense mutations in the positive controls were identified while indels had a detection rate of only 50%. In total, 244 common synonymous single-nucleotide polymorphisms (SNPs) annotated in dbSNP (build 132) corresponding to 22 distinct sequence variations were found in the 53 analyzed patients. Among the 22 different sequence variations (SPAST n = 15, ATL1 n = 3, KIF5A n = 2, HSPD1 n = 1, BSCL2 n = 1, NIPA1 n = 0), 12 were rare variants that have not been previously described and whose clinical significance is unknown. In SPAST-negative cases, a genetic diagnosis could be established in 11% by resequencing. Resequencing microarray technology can therefore efficiently be used to study genotypes and mutations in large patient cohorts. PMID:22552817

Dufke, Claudia; Schlipf, Nina; Schüle, Rebecca; Bonin, Michael; Auer-Grumbach, Michaela; Stevanin, Giovanni; Depienne, Christel; Kassubek, Jan; Klebe, Stephan; Klimpe, Sven; Klopstock, Thomas; Otto, Susanne; Poths, Sven; Seibel, Andrea; Stolze, Henning; Gal, Andreas; Schöls, Ludger; Bauer, Peter

2012-08-01

93

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

PubMed Central

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 diverse ethnic groups with prevalence estimates ranging from 1.2 to 9.6 per 100,000 [39, 70, 77, 154, 185]. 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. Post mortem 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 axon transport (e.g. SPG30/KIF1A, SPG10/KIF5A and possibly SPG4/Spastin); endoplasmic reticulum morphology (e.g. SPG3A/Atlastin, SPG4/Spastin, SPG12/reticulon 2, and SPG31/REEP1, all of which interact); 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) [113-115], “mutilating sensory neuropathy with spastic paraplegia” due 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. For recent review of HSP including historical descriptions, differential diagnosis, and additional references see [78].

Fink, John K.

2014-01-01

94

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

2012-01-01

95

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.

2013-01-01

96

A preliminary assessment of legged mobility provided by a lower limb exoskeleton for persons with paraplegia.  

PubMed

This paper presents an assessment of a lower limb exoskeleton for providing legged mobility to people with paraplegia. In particular, the paper presents a single-subject case study comparing legged locomotion using the exoskeleton to locomotion using knee-ankle-foot orthoses (KAFOs) on a subject with a T10 motor and sensory complete injury. The assessment utilizes three assessment instruments to characterize legged mobility, which are the timed up-and-go test, the Ten-Meter Walk Test (10 MWT), and the Six-Minute Walk Test (6 MWT), which collectively assess the subject's ability to stand, walk, turn, and sit. The exertion associated with each assessment instrument was assessed using the Physiological Cost Index. Results indicate that the subject was able to perform the respective assessment instruments 25%, 70%, and 80% faster with the exoskeleton relative to the KAFOs for the timed up-and-go test, the 10 MWT, and the 6 MWT, respectively. Measurements of exertion indicate that the exoskeleton requires 1.6, 5.2, and 3.2 times less exertion than the KAFOs for each respective assessment instrument. The results indicate that the enhancement in speed and reduction in exertion are more significant during walking than during gait transitions. PMID:23797285

Farris, Ryan J; Quintero, Hugo A; Murray, Spencer A; Ha, Kevin H; Hartigan, Clare; Goldfarb, Michael

2014-05-01

97

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia  

PubMed Central

Degeneration of peripheral motor axons is a common feature of several debilitating diseases including complicated forms of hereditary spastic paraplegia. One such form is caused by loss of the mitochondrial energy-dependent protease paraplegin. Paraplegin-deficient mice display a progressive degeneration in several axonal tracts, characterized by the accumulation of morphological abnormal mitochondria. We show that adenoassociated virus–mediated (AAV-mediated) intramuscular delivery of paraplegin halted the progression of neuropathological changes and rescued mitochondrial morphology in the peripheral nerves of paraplegin-deficient mice. One single injection before onset of symptoms improved the motor performance of paraplegin-deficient mice for up to 10 months, indicating that the peripheral neuropathy contributes to the clinical phenotype. This study provides a proof of principle that gene transfer may be an effective therapeutic option for patients with paraplegin deficiency and demonstrates that AAV vectors can be successfully employed for retrograde delivery of an intracellular protein to spinal motor neurons, opening new perspectives for several hereditary axonal neuropathies of the peripheral nerves.

Pirozzi, Marinella; Quattrini, Angelo; Andolfi, Gennaro; Dina, Giorgia; Malaguti, Maria Chiara; Auricchio, Alberto; Rugarli, Elena I.

2006-01-01

98

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia  

PubMed Central

Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic paraplegia (HSP), a lower-limb-predominant disorder of corticospinal motor neurons. We have identified four mutations in bicaudal D homolog 2 (Drosophila) (BICD2) in six kindreds affected by DCSMA, DCSMA with upper motor neuron features, or HSP. BICD2 encodes BICD2, a key adaptor protein that interacts with the dynein-dynactin motor complex, which facilitates trafficking of cellular cargos that are critical to motor neuron development and maintenance. We demonstrate that mutations resulting in amino acid substitutions in two binding regions of BICD2 increase its binding affinity for the cytoplasmic dynein-dynactin complex, which might result in the perturbation of BICD2-dynein-dynactin-mediated trafficking, and impair neurite outgrowth. These findings provide insight into the mechanism underlying both the static and the slowly progressive clinical features and the motor neuron pathology that characterize BICD2-associated diseases, and underscore the importance of the dynein-dynactin transport pathway in the development and survival of both lower and upper motor neurons.

Oates, Emily C.; Rossor, Alexander M.; Hafezparast, Majid; Gonzalez, Michael; Speziani, Fiorella; MacArthur, Daniel G.; Lek, Monkol; Cottenie, Ellen; Scoto, Mariacristina; Foley, A. Reghan; Hurles, Matthew; Houlden, Henry; Greensmith, Linda; Auer-Grumbach, Michaela; Pieber, Thomas R.; Strom, Tim M.; Schule, Rebecca; Herrmann, David N.; Sowden, Janet E.; Acsadi, Gyula; Menezes, Manoj P.; Clarke, Nigel F.; Zuchner, Stephan; Muntoni, Francesco; North, Kathryn N.; Reilly, Mary M.

2013-01-01

99

Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait  

SciTech Connect

Hereditary spastic paraplegia (HSP) is a degenerative disorder of the motor system, defined by progressive weakness and spasticity of the lower limbs. HSP may be inherited as an autosomal dominant (AD), autosomal recessive, or an X-linked trait. AD HSP is genetically heterogeneous, and three loci have been identified so far: SPG3 maps to chromosome 14q, SPG4 to 2p, and SPG4a to 15q. We have undertaken linkage analysis with 21 uncomplicated AD families to the three AD HSP loci. We report significant linkage for three of our families to the SPG4 locus and exclude several families by multipoint linkage. We used linkage information from several different research teams to evaluate the statistical probability of linkage to the SPG4 locus for uncomplicated AD HSP families and established the critical LOD-score value necessary for confirmation of linkage to the SPG4 locus from Bayesian statistics. In addition, we calculated the empirical P-values for the LOD scores obtained with all families with computer simulation methods. Power to detect significant linkage, as well as type I error probabilities, were evaluated. This combined analytical approach permitted conclusive linkage analyses on small to medium-size families, under the restrictions of genetic heterogeneity. 19 refs., 1 fig., 1 tab.

Dube, M.P.; Kibar, Z.; Rouleau, G.A. [McGill Univ., Quebec (Canada)] [and others

1997-03-01

100

Autosomal dominant familial spastic paraplegia; Linkage analysis and evidence for linkage to chromosome 2p  

SciTech Connect

Familial spastic paraplegia (FSP) is a degenerative disorder of the motor system characterized by progressive weakness and spasticity of the lower limbs. Little is known about the pathophysiology of this disorder. FSP can be inherited as an autosomal dominant (AD), autosomal recessive, or X-linked trait. We have undertaken linkage analysis for a group of 36 AD FSP families from which we have collected blood samples from 427 individuals, including 148 affected individuals. Typing of polymorphic markers has allowed us to exclude more than 50% of the genome. Recently, linkage for AD FSP to a locus on chromosome 14q was reported. Our AD FSP kindreds were tested for linkage to markers spanning the 20 cM region between D14S69 and D14S66; however, we were not able to establish linkage for any of our families to chromosome 14. Lod scores suggestive of linkage for some AD FSP kindreds have been obtained for markers on chromosome 2p. We have tested seven polymorphic markers spanning the region between D2S405 and D2S177. Our highest aggregate lod score, including all families tested, was obtained at the locus D2S352: 2.4 at 20 cM. Results from HOMOG analysis for linkage heterogeneity will be reported.

Figlewicz, D.A. [Univ. of Rochester, NY (United States); Dube, M.P.; Rouleau, G.A. [McGill Univ., Montreal (Canada)] [and others

1994-09-01

101

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

PubMed Central

Abstract 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-hNIPA1G106R) 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 NIPA1G106R 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-hNIPA1G106R 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.

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

2013-01-01

102

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

PubMed

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

2012-12-01

103

Pain and spinal cysts in paraplegia: treatment by drainage and DREZ operation.  

PubMed

About 10% of paraplegics suffer from intractable pain. The onset of pain may be immediate or delayed for months to several years after the injury. The delayed onset of pain is highly suggestive of the development of a spinal cyst. This is a report of 18 paraplegics who developed a delayed onset of intractable pain who were found at the time of surgery to have associated spinal cord cysts. Treatment consisted of the dorsal root entry zone (DREZ) operation in addition to evacuation of the cyst. Burning pain was the most common complaint occurring years after the trauma. In this study we compared the relationship between the onset and character of the pain, the time of the spinal injury, the operative findings, and the results of the DREZ procedure and evacuation of the traumatic spinal cyst. We believe that the combination of paraplegia, pain and spinal cyst has not been emphasized in the neurosurgical literature although it is well known that cystic formation can follow spinal trauma. Two patients developed spinal cysts with nontraumatic lesions of the spinal cord. A single cyst was found in 14 patients while four had two separate cysts. The diagnosis was made on the basis of history and clinical examination with radiographic confirmation using delayed CT scan and myelography and more recently magnetic resonance imaging. Intraoperative ultrasound was employed in the study of some patients. All patients were treated with combined DREZ lesions and evacuation of the cysts with good pain relief in 77.7%. PMID:2222879

Nashold, B S; Vieira, J; el-Naggar, A O

1990-01-01

104

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

PubMed

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

2012-12-01

105

Comparison of 24-hour cardiovascular and autonomic function in paraplegia, tetraplegia, and control groups: Implications for cardiovascular risk  

PubMed Central

Background Fluctuations in 24-hour cardiovascular hemodynamics, specifically heart rate (HR) and blood pressure (BP), are thought to reflect autonomic nervous system (ANS) activity. Persons with spinal cord injury (SCI) represent a model of ANS dysfunction, which may affect 24-hour hemodynamics and predispose these individuals to increased cardiovascular disease risk. Objective To determine 24-hour cardiovascular and ANS function among individuals with tetraplegia (n = 20; TETRA: C4–C8), high paraplegia (n = 10; HP: T2–T5), low paraplegia (n = 9; LP: T7–T12), and non-SCI controls (n = 10). Twenty-four-hour ANS function was assessed by time domain parameters of heart rate variability (HRV); the standard deviation of the 5-minute average R–R intervals (SDANN; milliseconds/ms), and the root-mean square of the standard deviation of the R–R intervals (rMSSD; ms). Subjects wore 24-hour ambulatory monitors to record HR, HRV, and BP. Mixed analysis of variance (ANOVA) revealed significantly lower 24-hour BP in the tetraplegic group; however, BP did not differ between the HP, LP, and control groups. Mixed ANOVA suggested significantly elevated 24-hour HR in the HP and LP groups compared to the TETRA and control groups (P < 0.05); daytime HR was higher in both paraplegic groups compared to the TETRA and control groups (P < 0.01) and nighttime HR was significantly elevated in the LP group compared to the TETRA and control groups (P < 0.01). Twenty-four-hour SDANN was significantly increased in the HP group compared to the LP and TETRA groups (P < 0.05) and rMSSD was significantly lower in the LP compared to the other three groups (P < 0.05). Elevated 24-hour HR in persons with paraplegia, in concert with altered HRV dynamics, may impart significant adverse cardiovascular consequences, which are currently unappreciated.

Rosado-Rivera, Dwindally; Radulovic, M.; Handrakis, John P.; Cirnigliaro, Christopher M.; Jensen, A. Marley; Kirshblum, Steve; Bauman, William A.; Wecht, Jill Maria

2011-01-01

106

Sciatica and Incomplete Paraplegia After Spontaneous Haematoma of the Spinal Cord Due to a Cumarine - Induced Coagulopathy: Case Report  

PubMed Central

Spontaneous spinal haematoma is a rare cause of sciatica. We present a case of a 73 year old patient, who was admitted to our department and suffered from spontaneous sciatica over 24 hours. During the examination, the patient presented undulating symptoms of paraplegia, varying from incomplete loss of power in the left lower limb to complete plegia. The patient presented multiple diseases like biological aortic valve replacement, diabetes, hypertonia in her medical history, etc. Due to an additional absolute arrhythmia she ingested a cumarine medication. The tomographic imaging revealed a spontaneous lumbar and cranial subarachnoidal haematoma.

Artner, Juraj; Leucht, F; Schulz, C; Cakir, B

2012-01-01

107

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.  

PubMed

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome mapping and exome sequencing, we identified three mutations in REEP2 in two families with HSP: a missense variant (c.107T>A [p.Val36Glu]) that segregated in the heterozygous state in a family with autosomal-dominant inheritance and a missense change (c.215T>A [p.Phe72Tyr]) that segregated in trans with a splice site mutation (c.105+3G>T) in a family with autosomal-recessive transmission. REEP2 belongs to a family of proteins that shape the endoplasmic reticulum, an organelle that was altered in fibroblasts from an affected subject. In vitro, the p.Val36Glu variant in the autosomal-dominant family had a dominant-negative effect; it inhibited the normal binding of wild-type REEP2 to membranes. The missense substitution p.Phe72Tyr, in the recessive family, decreased the affinity of the mutant protein for membranes that, together with the splice site mutation, is expected to cause complete loss of REEP2 function. Our findings illustrate how dominant and recessive inheritance can be explained by the effects and nature of mutations in the same gene. They have also important implications for genetic diagnosis and counseling in clinical practice because of the association of various modes of inheritance to this new clinico-genetic entity. PMID:24388663

Esteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, José L; Boutry, Maxime; Gonzalez, Michael A; Gauthier, Julie; El-Hachimi, Khalid H; Depienne, Christel; Muriel, Marie-Paule; Acosta Lebrigio, Rafael F; Gaussen, Marion; Noreau, Anne; Speziani, Fiorella; Dionne-Laporte, Alexandre; Deleuze, Jean-François; Dion, Patrick; Coutinho, Paula; Rouleau, Guy A; Zuchner, Stephan; Brice, Alexis; Stevanin, Giovanni; Darios, Frédéric

2014-02-01

108

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations.  

PubMed

Hereditary spastic paraplegia (HSP) leads to progressive gait disturbances with lower limb muscle weakness and spasticity. Mutations in SPAST are a major cause of adult-onset, autosomal-dominant HSP. Spastin, the protein encoded by SPAST, is a microtubule-severing protein that is enriched in the distal axon of corticospinal motor neurons, which degenerate in HSP patients. Animal and cell models have identified functions of spastin and mutated spastin but these models lack the gene dosage, mutation variability and genetic background that characterize patients with the disease. In this study, this genetic variability is encompassed by comparing neural progenitor cells derived from biopsies of the olfactory mucosa from healthy controls with similar cells from HSP patients with SPAST mutations, in order to identify cell functions altered in HSP. Patient-derived cells were similar to control-derived cells in proliferation and multiple metabolic functions but had major dysregulation of gene expression, with 57% of all mRNA transcripts affected, including many associated with microtubule dynamics. Compared to control cells, patient-derived cells had 50% spastin, 50% acetylated ?-tubulin and 150% stathmin, a microtubule-destabilizing enzyme. Patient-derived cells were smaller than control cells. They had altered intracellular distributions of peroxisomes and mitochondria and they had slower moving peroxisomes. These results suggest that patient-derived cells might compensate for reduced spastin, but their increased stathmin expression reduced stabilized microtubules and altered organelle trafficking. Sub-nanomolar concentrations of the microtubule-binding drugs, paclitaxel and vinblastine, increased acetylated ?-tubulin levels in patient cells to control levels, indicating the utility of this cell model for screening other candidate compounds for drug therapies. PMID:23264559

Abrahamsen, Greger; Fan, Yongjun; Matigian, Nicholas; Wali, Gautam; Bellette, Bernadette; Sutharsan, Ratneswary; Raju, Jyothy; Wood, Stephen A; Veivers, David; Sue, Carolyn M; Mackay-Sim, Alan

2013-03-01

109

Autosomal dominant familial spastic paraplegia: Tight linkage to chromosome 15q  

SciTech Connect

Familial spastic paraplegia (FSP) (MIM No.18260) constitutes a clinically and genetically diverse group of disorders that share the primary feature of progressive, severe, lower extremity spasticity. FSP is classified according to the mode of inheritance and whether progressive spasticity occurs in isolation ({open_quotes}uncomplicated FSP{close_quotes}) or with other neurologic abnormalities ({open_quotes}complicated FSP{close_quotes}), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, or deafness. Recently, autosomal dominant, uncomplicated FSP was shown to be genetically heterogeneous and tightly linked to a group of microsatellite markers on chromosome 14q in one large kindred. We examined 126 members of a non-consanguineous North American kindred of Irish descent. FSP was diagnosed in 31 living subjects who developed insidiously progressive gait disturbance between ages 12 and 35 years. Using genetic linkage analysis to microsatellite DNA polymorphisms, we showed that the FSP locus on chromosome 14q was exluded from linkage with the disorder in our family. Subsequently, we searched for genetic linkage between the disorder and microsatellite DNA polymorphisms spanning approximately 50% of the genome. We observed significantly positive, two-point maximum lod scores (Z) for markers on chromosome 15q: D15S128 (Z=9.70, {theta}=0.05), D15S165 (Z=3.30, {theta}=0.10), and UT511 (Z=3.86, {theta}=0.10). Our data clearly establishes that one locus for autosomal dominant, uncomplicated FSP is mapped to the pericentric region of chromosome 15q. Identifying genes responsible for chromosome 15q-linked and chromosome 14q-linked FSP will greatly advance our understanding of this condition and hopefully other inherited and degenerative brain and spinal cord disorders that are also characterized by axonal degeneration.

Fink, J.K.; Wu, C.T.B.; Jones, S.M.

1994-09-01

110

Burn from car seat heater in a man with paraplegia: case report  

PubMed Central

Objective/background Heated car seats are a common feature in newer automobiles. They are increasingly being recognized as potential hazards as there have been multiple reports of significant burns to its users. The potential for harm is considerably increased in those with impaired sensation with the possibility of a devastating injury. Methods Case report and literature review. Results A 26-year-old male with a T8 ASIA A paraplegia presented to the outpatient clinic for management of a hip burn. Two weeks prior to his visit he was driving a 2004 Jeep Cherokee for approximately 30 minutes. He was unaware that the driver's side seat warmer was set on high. He denied that his seat belt was in direct contact with the skin of his right hip. He presented to an acute care hospital that evening with a hip burn where he was prescribed silver sulfadiazine cream and instructed to apply it until his scheduled follow-up clinic visit. In clinic, the hip wound was unstageable with approximately 95% eschar. A dressing of bismuth tribromophenate in petrolatum was applied to the wound and he was instructed to change the dressing daily. This was later changed to an antimicrobial alginate dressing. The ulcer eventually healed. Conclusions This case illustrates the significant risk of car seat heaters in individuals with spinal cord injuries or neurological impairment who have decreased sensation. Additionally, it highlights an atypical area of potential for burn. Furthermore, it emphasizes the need for a heightened awareness for this unique and dangerous situation.

Benjamin, Cheryl; Gittler, Michelle; Lee, Ray

2011-01-01

111

Linkage of the late onset autosomal dominant familial spastic paraplegia (DFSPII) to chromosome 2p markers  

SciTech Connect

Pure familial spastic paraplegias (FSP) is a neurodegenerative disease characterized by spasticity of lower limbs. FSP in inherited as an autosomal dominant (DFSP) or an autosomal recessive (RFSP) trait. DFSP has been classified into early onset (DFSPI) and late onset (DFSPII) based on the mean age of onset in families. A locus for RFSP has been mapped to chromosome 8, while a locus for DFSPI has been mapped to chromosome 14q. Genetic locus heterogeneity was observed in both of these forms. The location of DFSPII locus (or loci) is unknown. We collected DNA samples from 81 individuals including 26 affecteds from three DFSPII families (9998, 840, 581). The mean age of onset of systems was 26.5, 42.5, and 35.2 years, respectively. We first tested 156 DNA markers distributed throughout the human 22 autosomes with family 9998 and positive lod scores were obtained with chromosome 2p markers D2S174 (Z({theta})=2.93 at {theta}=0.00), D2S146 (Z({theta})=1.03 at {theta}=0.00) and D2S177 (Z({theta})=1.04 at {theta}=0.00). Analysis of the 2 additional families confirmed the linkage with a peak lod score of Z({theta})=4.62 at {theta}=0.105 with D2S174. The multipoint linkage analysis using the map D2S175-10cM-D2S174-14cM-D2DS177 suggested that the DFSPII locus most likely maps between D2S174 and D2S177 with Z({theta})=6.11. There was no evidence in our data supporting genetic locus heterogeneity for the DFSPII.

Hentati, A.; Wasserman, B.; Siddique, T. [Northwestern Univ. Medical School, Chicago, IL (United States)] [and others

1994-09-01

112

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations  

PubMed Central

SUMMARY Hereditary spastic paraplegia (HSP) leads to progressive gait disturbances with lower limb muscle weakness and spasticity. Mutations in SPAST are a major cause of adult-onset, autosomal-dominant HSP. Spastin, the protein encoded by SPAST, is a microtubule-severing protein that is enriched in the distal axon of corticospinal motor neurons, which degenerate in HSP patients. Animal and cell models have identified functions of spastin and mutated spastin but these models lack the gene dosage, mutation variability and genetic background that characterize patients with the disease. In this study, this genetic variability is encompassed by comparing neural progenitor cells derived from biopsies of the olfactory mucosa from healthy controls with similar cells from HSP patients with SPAST mutations, in order to identify cell functions altered in HSP. Patient-derived cells were similar to control-derived cells in proliferation and multiple metabolic functions but had major dysregulation of gene expression, with 57% of all mRNA transcripts affected, including many associated with microtubule dynamics. Compared to control cells, patient-derived cells had 50% spastin, 50% acetylated ?-tubulin and 150% stathmin, a microtubule-destabilizing enzyme. Patient-derived cells were smaller than control cells. They had altered intracellular distributions of peroxisomes and mitochondria and they had slower moving peroxisomes. These results suggest that patient-derived cells might compensate for reduced spastin, but their increased stathmin expression reduced stabilized microtubules and altered organelle trafficking. Sub-nanomolar concentrations of the microtubule-binding drugs, paclitaxel and vinblastine, increased acetylated ?-tubulin levels in patient cells to control levels, indicating the utility of this cell model for screening other candidate compounds for drug therapies.

Abrahamsen, Greger; Fan, Yongjun; Matigian, Nicholas; Wali, Gautam; Bellette, Bernadette; Sutharsan, Ratneswary; Raju, Jyothy; Wood, Stephen A.; Veivers, David; Sue, Carolyn M.; Mackay-Sim, Alan

2013-01-01

113

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration  

PubMed Central

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is due to mutations in the "spastin" gene (SPAST gene) encoding the AAA protein. The main clinical features of "pure" HSP are progressive lower-limb spasticity with corticospinal tracts and dorsal column degeneration without peripheral neuropathy. Here we report the case of HSP with novel SPAST gene mutation that misdiagnosed with subacute combined degeneration initially. A 58-year-old man with gait disturbance came to our hospital. He was unable to regulate his steps by himself. The impaired gait began 3 years after he had undergone subtotal gastrectomy and chemotherapy for 6 months. Thereafter, he started feeling tingling sensations in the hands and feet and acquired gait difficulties. He denied having a family history of abnormal gait or developmental problem. We diagnosed him with subacute combined degeneration on the evidence of history of gastrectomy, lower normal limit of vitamin B12 (363 pg/ml), apparent absence of vibration sensations and paresthesia in the feet. He was intramuscularly administered cyanocobalamin regularly. However, there was no improvement in his condition. We reconsidered his symptoms and signs, decided to examine the SPAST gene, which is the most common mutation in HSP. The SPAST gene, c.870+1delG, heterozygote, splicing mutation is detected from the gene sample. There was no previous information of this polymorphism or mutation at this locus. We examined his two children, and the same mutation was founded in his son. We report a patient of novel SPAST gene mutation with AD-HSP which is misdiagnosed with SCD.

Yang, Ji Won; Han, Ji-Young; Seong, Moon-Woo; Lee, Kwang-Woo

2013-01-01

114

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations  

PubMed Central

Recessive mutations in GJA12/GJC2, the gene that encodes the gap junction protein connexin47 (Cx47), cause Pelizaeus-Merzbacher-like disease (PMLD), an early onset dysmyelinating disorder of the CNS, characterized by nystagmus, psychomotor delay, progressive spasticity and cerebellar signs. Here we describe three patients from one family with a novel recessively inherited mutation, 99C>G (predicted to cause an Ile>Met amino acid substitution; I33M) that causes a milder phenotype. All three had a late-onset, slowly progressive, complicated spastic paraplegia, with normal or near-normal psychomotor development, preserved walking capability through adulthood, and no nystagmus. MRI and MR spectroscopy imaging were consistent with a hypomyelinating leukoencephalopathy. The mutant protein forms gap junction plaques at cell borders similar to wild-type (WT) Cx47 in transfected cells, but fails to form functional homotypic channels in scrape-loading and dual whole-cell patch clamp assays. I33M forms overlapping gap junction plaques and functional channels with Cx43, however, I33M/Cx43 channels open only when a large voltage difference is applied to paired cells. These channels probably do not function under physiological conditions, suggesting that Cx47/Cx43 channels between astrocytes and oligodendrocytes are disrupted, similar to the loss-of-function endoplasmic reticulum-retained Cx47 mutants that cause PMLD. Thus, GJA12/GJC2 mutations can result in a milder phenotype than previously appreciated, but whether I33M retains a function of Cx47 not directly related to forming functional gap junction channels is not known.

Orthmann-Murphy, Jennifer L.; Salsano, Ettore; Abrams, Charles K.; Bizzi, Alberto; Uziel, Graziella; Freidin, Mona M.; Lamantea, Eleonora; Zeviani, Massimo; Scherer, Steven S.

2009-01-01

115

Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia  

PubMed Central

Background and Purpose Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders that are characterized by progressive spasticity and weakness of the lower limbs. Mutations in the spastin gene (SPAST) are the most common causes of HSP, accounting for 40-67% of autosomal dominant HSP (AD-HSP) and 12-18% of sporadic cases. Mutations in the atlastin-1 gene (ATL1) and receptor expression-enhancing protein 1 gene (REEP1) are the second and third most common causes of AD-HSP, respectively. Methods Direct sequence analysis was used to screen mutations in SPAST, ATL1, and REEP1 in 27 unrelated Korean patients with pure and complicated HSP. Multiplex ligation-dependent probe amplification was also performed to detect copy-number variations of the three genes. Results Ten different SPAST mutations were identified in 11 probands, of which the following 6 were novel: c.760A>T, c.131C>A, c.1351_1353delAGA, c.376_377dupTA, c.1114A>G, and c.1372A>C. Most patients with SPAST mutations had AD-HSP (10/11, 91%), and the frequency of SPAST mutations accounted for 66.7% (10/15) of the AD-HSP patients. No significant correlation was found between the presence of the SPAST mutation and any of the various clinical parameters of pure HSP. No ATL1 and REEP1 mutations were detected. Conclusions We conclude that SPAST mutations are responsible for most Korean cases of genetically confirmed AD-HSP. Our observation of the absence of ATL1 and REEP1 mutations needs to be confirmed in larger series.

Kim, Tae-Hyoung; Park, Young-Eun; Shin, Jin-Hong; Nam, Tai-Seung; Kim, Hyang-Sook; Jang, Ho-Jung; Semenov, Artem; Kim, Sang Jin

2014-01-01

116

Effect of choice of recovery patterns on handrim kinetics in manual wheelchair users with paraplegia and tetraplegia  

PubMed Central

Background Impact forces experienced by the upper limb at the beginning of each wheelchair propulsion (WCP) cycle are among the highest forces experienced by wheelchair users. Objective To determine whether the magnitude of hand/forearm velocity prior to impact and effectiveness of rim impact force are dependent on the type of hand trajectory pattern chosen by the user during WCP. Avoiding patterns that inherently cause higher impact force and have lower effectiveness can be another step towards preserving upper limb function in wheelchair users. Methods Kinematic (50 Hz) and kinetic (2500 Hz) data were collected on 34 wheelchair users (16 with paraplegia and 18 with tetraplegia); all participants had motor complete spinal cord injuries ASIA A or B. The four-hand trajectory patterns were analyzed based on velocity prior to contact, peak impact force and the effectiveness of force at impact. Results A high correlation was found between the impact force and the relative velocity of the hand with respect to the wheel (P < 0.05). The wheelchair users with paraplegia were found to have higher effectiveness of force at impact as compared to the users with tetraplegia (P < 0.05). No significant differences in the impact force magnitudes were found between the four observed hand trajectory patterns. Conclusion The overall force effectiveness tended to be associated with the injury level of the user and was found to be independent of the hand trajectory patterns.

Raina, Shashank; McNitt-Gray, Jill; Mulroy, Sara; Requejo, Philip

2012-01-01

117

Long-term survival enhanced by cordectomy in a patient with a spinal glioblastoma multiforme and paraplegia. Case report.  

PubMed

Spinal glioblastomas multiforme (GBMs) are rare lesions of the central nervous system with a prognosis as poor as that of their intracranial counterpart. The authors present a case of a 50-year-old man with a GBM of the spinal cord treated with surgical removal of the mass and cordectomy after the onset of paraplegia. Six years later, the patient developed hepatitis C and received interferon therapy. Six months after the start of interferon therapy, magnetic resonance imaging revealed a right cerebellar mass pathologically consistent with a GBM. Despite aggressive treatment, the patient died 1 month later. Although intracranial dissemination of spinal GBMs has been reported, this case illustrates the longest reported interval between the occurrence of a spinal GBM and its intracranial dissemination. Thus, cordectomy should be considered as a reasonable alternative in patients with complete loss of neurological function at and below the level where they harbor a malignant spinal cord astrocytoma. PMID:18074692

Marchan, Edward M; Sekula, Raymond F; Jannetta, Peter J; Quigley, Matthew R

2007-12-01

118

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts  

PubMed Central

Background Mutations in the gene STUB1, encoding the protein CHIP (C-terminus of HSC70-interacting protein), have recently been suggested as a cause of recessive ataxia based on the findings in few Chinese families. Here we aimed to investigate the phenotypic and genotypic spectrum of STUB1 mutations, and to assess their frequency in different Caucasian disease cohorts. Methods 300 subjects with degenerative ataxia (n =?167) or spastic paraplegia (n =?133) were screened for STUB1 variants by whole-exome-sequencing (n =?204) or shotgun-fragment-library-sequencing (n =?96). To control for the specificity of STUB1 variants, we screened an additional 1707 exomes from 891 index families with other neurological diseases. Results We identified 3 ataxia patients (3/167 =?1.8%) with 4 novel missense mutations in STUB1, including 3 mutations in its tetratricopeptide-repeat domain. All patients showed evidence of pyramidal tract damage. Cognitive impairment was present only in one and hypogonadism in none of them. Ataxia did not start before age 48 years in one subject. No recessive STUB1 variants were identified in families with other neurological diseases, demonstrating that STUB1 variants are not simply rare polymorphisms ubiquitous in neurodegenerative disease. Conclusions STUB1-disease occurs also in Caucasian ataxia populations (1.8%). Our results expand the genotypic spectrum of STUB1-disease, showing that pathogenic mutations affect also the tetratricopeptide-repeat domain, thus providing clinical evidence for the functional importance of this domain. Moreover, they further delineate the phenotypic core features of STUB1-ataxia. Pyramidal tract damage is a common accompanying feature and can include lower limb spasticity, thus adding STUB1-ataxia to the differential diagnosis of “spastic ataxias”. However, STUB1 is rare in subjects with predominant spastic paraplegia (0/133). In contrast to previous reports, STUB1-ataxia can start even above age 40 years, and neither hypogonadism nor prominent cognitive impairment are obligatory features.

2014-01-01

119

Temporary paraplegia resulting from Gorham's disease involving the third lumbar vertebra and proximal femur: a five-year follow-up and review of the literature.  

PubMed

Gorham's disease is a rare musculoskeletal disease of unknown etiology characterized by progressive osteolysis and massive bone destruction. Here, we report an extremely rare case of Gorham's disease involving two far sites in the lumbar spine and trochanteric region, gradually resulting in paraplegia. The patient underwent cord decompression and chemotherapy, and resumed her normal life; she was followed up for nearly five years. PMID:24206415

Esmailiejah, Ali Akbar; Kamalian, Naser; Abbasian, Mohammadreza

2013-11-01

120

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

PubMed Central

OBJECTIVES—There 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.?METHODS—Lower urinary tract symptoms were recorded at an interview and according to a formalised questionnaire. Eleven patients were clinically evaluated and cystometry, measurements of the cutaneous perception threshold, bulbocavernosus reflex latency, and somatosensory evoked potentials (SSEPs) of the pudendal nerve were performed.?RESULTS—All patients experienced urinary urgency or urge incontinence. Rectal urgency and sexual dysfunction were reported by most patients. The cystometrical findings showed a mixed pattern of bladder dysfunction. The SSEPs were normal in all but the bulbocavernosus reflex latency was significantly prolonged in seven patients and the cutaneous perception threshold was raised in five patients.?CONCLUSIONS—Lower urinary tract symptoms and probably also bowel and sexual dysfunction in patients with ADPSP linked to chromosome 2p21-p24 are due to a combination of somatic and autonomic nervous system involvement which support the proposed multisystem affection in ADPSP linked to chromosome 2p21-p24.??

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

1998-01-01

121

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.  

PubMed

Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity and pyramidal weakness of lower limbs. Because >30 causative genes have been identified, screening of multiple genes is required for establishing molecular diagnosis of individual patients with HSP. To elucidate molecular epidemiology of HSP in the Japanese population, we have conducted mutational analyses of 16 causative genes of HSP (L1CAM, PLP1, ATL1, SPAST, CYP7B1, NIPA1, SPG7, KIAA0196, KIF5A, HSPD1, BSCL2, SPG11, SPG20, SPG21, REEP1 and ZFYVE27) using resequencing microarrays, array-based comparative genomic hybridization and Sanger sequencing. The mutational analysis of 129 Japanese patients revealed 49 mutations in 46 patients, 32 of which were novel. Molecular diagnosis was accomplished for 67.3% (33/49) of autosomal dominant HSP patients. Even among sporadic HSP patients, mutations were identified in 11.1% (7/63) of them. The present study elucidated the molecular epidemiology of HSP in the Japanese population and further broadened the mutational and clinical spectra of HSP. PMID:24451228

Ishiura, Hiroyuki; Takahashi, Yuji; Hayashi, Toshihiro; Saito, Kayoko; Furuya, Hirokazu; Watanabe, Mitsunori; Murata, Miho; Suzuki, Mikiya; Sugiura, Akira; Sawai, Setsu; Shibuya, Kazumoto; Ueda, Naohisa; Ichikawa, Yaeko; Kanazawa, Ichiro; Goto, Jun; Tsuji, Shoji

2014-03-01

122

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

PubMed Central

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 the SPAST gene, encoding spastin, which occurs in 40% of dominantly inherited cases and in ?10% of sporadic cases. Both loss-of-function and dominant-negative mutation mechanisms have been described for SPG4, suggesting that precise or stoichiometric levels of spastin are necessary for biological function. Therefore, we hypothesized that regulatory mechanisms controlling expression of SPAST are important determinants of spastin biology, and if altered, could contribute to the development and progression of the disease. To examine the transcriptional and post-transcriptional regulation of SPAST, we used molecular phylogenetic methods to identify conserved sequences for putative transcription factor binding sites and miRNA targeting motifs in the SPAST promoter and 3?-UTR, respectively. By a variety of molecular methods, we demonstrate that SPAST transcription is positively regulated by NRF1 and SOX11. Furthermore, we show that miR-96 and miR-182 negatively regulate SPAST by effects on mRNA stability and protein level. These transcriptional and miRNA regulatory mechanisms provide new functional targets for mutation screening and therapeutic targeting in HSP.

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

2012-01-01

123

A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia.  

PubMed

Hereditary factor XII (FXII) deficiency is a clinically asymptomatic, autosomal recessive disorder. We have experienced a rare case of FXII deficiency in a patient previously diagnosed with hereditary spastic paraplegia (HSP). The patient had no major bleeding episodes and presented with a prolonged activated partial thromboplastin time (APTT) at hospital administration. Sequencing of the FXII gene revealed a novel missense mutation at exon 4 that substitutes arginine 84 to proline (R84P). To elucidate the molecular mechanism of FXII deficiency, wild-type and R84P mutant FXII cDNA were transiently expressed in CHO cells. We found that secretion but not synthesis of R84P mutant protein was markedly reduced compared to wild type. These results indicated that R84P mutation might impair the intracellular transport or secretion of FXII protein of the cells and could be a useful tool for the analysis of structure-function relationship and intracellular protein transport of FXII protein in the future. PMID:21297451

Matsuki, Eri; Miyakawa, Yoshitaka; Okamoto, Shinichiro

2011-04-01

124

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: acrosby@sgul.ac.uk

2006-09-10

125

Cold temperature improves mobility and survival in Drosophila models of autosomal-dominant hereditary spastic paraplegia (AD-HSP).  

PubMed

Autosomal-dominant hereditary spastic paraplegia (AD-HSP) is a crippling neurodegenerative disease for which effective treatment or cure remains unknown. Victims experience progressive mobility loss due to degeneration of the longest axons in the spinal cord. Over half of AD-HSP cases arise from loss-of-function mutations in spastin, which encodes a microtubule-severing AAA ATPase. In Drosophila models of AD-HSP, larvae lacking Spastin exhibit abnormal motor neuron morphology and function, and most die as pupae. Adult survivors display impaired mobility, reminiscent of the human disease. Here, we show that rearing pupae or adults at reduced temperature (18°C), compared with the standard temperature of 24°C, improves the survival and mobility of adult spastin mutants but leaves wild-type flies unaffected. Flies expressing human spastin with pathogenic mutations are similarly rescued. Additionally, larval cooling partially rescues the larval synaptic phenotype. Cooling thus alleviates known spastin phenotypes for each developmental stage at which it is administered and, notably, is effective even in mature adults. We find further that cold treatment rescues larval synaptic defects in flies with mutations in Flower (a protein with no known relation to Spastin) and mobility defects in flies lacking Kat60-L1, another microtubule-severing protein enriched in the CNS. Together, these data support the hypothesis that the beneficial effects of cold extend beyond specific alleviation of Spastin dysfunction, to at least a subset of cellular and behavioral neuronal defects. Mild hypothermia, a common neuroprotective technique in clinical treatment of acute anoxia, might thus hold additional promise as a therapeutic approach for AD-HSP and, potentially, for other neurodegenerative diseases. PMID:24906373

Baxter, Sally L; Allard, Denise E; Crowl, Christopher; Sherwood, Nina Tang

2014-08-01

126

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

2011-01-01

127

Body composition changes after 12 months of FES cycling: case report of a 60-year-old female with paraplegia.  

PubMed

Study design:Single-subject (female, 60 years of age) case.Objectives:The purpose of this case report is to document body composition changes in a 60-year-old female with chronic paraplegia after 12 months of home-based functional electrical stimulation lower extremities cycling (FES-LEC).Setting:Home-based FES-LEC with internet connection. Southeastern United States.Methods:FES-LEC three sessions per week for 12 months in participant's home and monitored by the research staff via internet connection. Pre- and post-exercise program testing for body composition including percent body fat, fat mass (FM), lean mass (LM) and whole-body bone mineral density (BMD) via dual-energy x-ray absorptiometry (DXA).Results:There was a 7.7% increase in total body LM and a 4.1% increase in legs LM. There was a 1.2% decrease in total body FM and a 9.9% decrease in legs FM. Percent body fat decreased from 48.4 to 46.3 and whole-body BMD was increased from 0.934 to 1.023, which resulted in an improvement in the DXA T-score from -2.4 to -1.3.Conclusion:Positive body compositional changes during this study support the idea that long-term FES-LEC can help restore healthier ratios of LM and FM and possibly decrease the risk of associated diseases. Increased whole-body BMD provides hope that long-term FES-LEC may be beneficial regarding bone health. PMID:24902644

Dolbow, D R; Gorgey, A S; Gater, D R; Moore, J R

2014-06-01

128

Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia  

PubMed Central

ABSTRACT Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of disorders, diagnosed by progressive gait disturbances with muscle weakness and spasticity, for which there are no treatments targeted at the underlying pathophysiology. Mutations in spastin are a common cause of HSP. Spastin is a microtubule-severing protein whose mutation in mouse causes defective axonal transport. In human patient-derived olfactory neurosphere-derived (ONS) cells, spastin mutations lead to lower levels of acetylated ?-tubulin, a marker of stabilised microtubules, and to slower speed of peroxisome trafficking. Here we screened multiple concentrations of four tubulin-binding drugs for their ability to rescue levels of acetylated ?-tubulin in patient-derived ONS cells. Drug doses that restored acetylated ?-tubulin to levels in control-derived ONS cells were then selected for their ability to rescue peroxisome trafficking deficits. Automated microscopic screening identified very low doses of the four drugs (0.5?nM taxol, 0.5?nM vinblastine, 2?nM epothilone D, 10?µM noscapine) that rescued acetylated ?-tubulin in patient-derived ONS cells. These same doses rescued peroxisome trafficking deficits, restoring peroxisome speeds to untreated control cell levels. These results demonstrate a novel approach for drug screening based on high throughput automated microscopy for acetylated ?-tubulin followed by functional validation of microtubule-based peroxisome transport. From a clinical perspective, all the drugs tested are used clinically, but at much higher doses. Importantly, epothilone D and noscapine can enter the central nervous system, making them potential candidates for future clinical trials.

Fan, Yongjun; Wali, Gautam; Sutharsan, Ratneswary; Bellette, Bernadette; Crane, Denis I.; Sue, Carolyn M.; Mackay-Sim, Alan

2014-01-01

129

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

2013-01-01

130

Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum  

PubMed Central

Background Hereditary spastic paraplegia defines a group of genetically heterogeneous diseases characterized by weakness and spasticity of the lower limbs owing to retrograde degeneration of corticospinal axons. One autosomal recessive form of the disease is caused by mutation in the SPG7 gene. Paraplegin, the product of SPG7, is a component of the m-AAA protease, a high molecular weight complex that resides in the mitochondrial inner membrane, and performs crucial quality control and biogenesis functions in mitochondria. Principal Findings Here we show the existence in the mouse of a novel isoform of paraplegin, which we name paraplegin-2, encoded by alternative splicing of Spg7 through usage of an alternative first exon. Paraplegin-2 lacks the mitochondrial targeting sequence, and is identical to the mature mitochondrial protein. Remarkably, paraplegin-2 is targeted to the endoplasmic reticulum. We find that paraplegin-2 exposes the catalytic domains to the lumen of the endoplasmic reticulum. Moreover, endogenous paraplegin-2 accumulates in microsomal fractions prepared from mouse brain and retina. Finally, we show that the previously generated mouse model of Spg7-linked hereditary spastic paraplegia is an isoform-specific knock-out, in which mitochondrial paraplegin is specifically ablated, while expression of paraplegin-2 is retained. Conclusions/Significance These data suggest a possible additional role of AAA proteases outside mitochondria and open the question of their implication in neurodegeneration.

Mancuso, Giuseppe; Barth, Esther; Crivello, Pietro; Rugarli, Elena I.

2012-01-01

131

Autosomal dominant familial spastic paraplegia: Reduction of the FSPI candidate region on chromosome 14q to 7 cM and locus heterogeneity  

SciTech Connect

Three large pedigrees of Germany descent with autosomal dominant {open_quotes}pure{close_quotes} familial spastic paraplegia (FSP) were characterized clinically and genetically. Haplotype and linkage analyses, with microsatellites covering the FSP region on chromosome 14q (locus FSP1), were performed. In pedigree W, we found a haplotype that cosegregates with the disease and observed three crossing-over events, reducing the FSP1 candidate region to 7 cM; in addition, the observation of apparent anticipation in this family suggests a trinucleotide repeat expansion as the mutation. In pedigree D and S, the gene locus could be excluded from the whole FSP1 region, confirming the locus heterogeneity of autosomal dominant FSP. 11 refs., 2 figs., 2 tabs.

Gispert, S.; Santos, N.; Auburger, G.; Damen, R.; Voit, T. [University Hospital, Duesseldorf (Germany); Schulz, J.; Klockgether, T. [University Hospital, Tuebingen (Germany); Orozco, G. [Hospital Lenin, Holguin (Cuba); Kreuz, F. [Technical Univ., Dresden (Netherlands); Weissenbach, J. [Unite de Genetique, Paris (France)

1995-01-01

132

Weight Bearing through Lower Limbs in a Standing Frame with and without Arm Support and Low-Magnitude Whole Body Vibration in Men and Women with Complete Motor Paraplegia  

PubMed Central

Objective To determine the proportion of body weight (BW) borne through the lower limbs in persons with complete, motor paraplegia using a standing frame, with and without support of their arms. We also examined the effect of low-magnitude whole body vibration on loads borne by the lower extremities. Design Vertical ground reaction forces (GRF) were measured in 11 participants (6 men and 5 women) with paraplegia of traumatic origin (injury level T3 to T12) standing on a low-magnitude vibrating plate using a standing frame. GRF were measured in four conditions: 1) no vibration with arms on standing frame tray; 2) no vibration with arms at side; 3) vibration with arms on tray; 4) vibration with arms at side. Results GRF with arms on tray, without vibration, was 0.76 ± 0.07 BW. With arms at the side, GRF increased to 0.85 ± 0.12 BW. With vibration, mean GRF did not significantly differ from no-vibration conditions for either arm positions. Oscillation of GRF with vibration was significantly different from no-vibration conditions (p<0.001) but similar in both arm positions. Conclusion Men and women with paraplegia using a standing frame bear the majority of their weight through their lower limbs. Supporting their arms on the tray reduces the GRF by ~10% BW. Low-magnitude vibration provided additional oscillation of the load-bearing forces and was proportionally similar regardless of arm position.

Bernhardt, Kathie A.; Beck, Lisa A.; Lamb, Jeffry L.; Kaufman, Kenton R.; Amin, Shreyasee; Wuermser, Lisa-Ann

2014-01-01

133

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia  

PubMed Central

Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an autosomal recessive form of hereditary spastic paraplegia (HSP). Here, we analyze the function of paraplegin at the cellular level and characterize the phenotypic defects of HSP patients' cells lacking this protein. We demonstrate that paraplegin coassembles with a homologous protein, AFG3L2, in the mitochondrial inner membrane. These two proteins form a high molecular mass complex, which we show to be aberrant in HSP fibroblasts. The loss of this complex causes a reduced complex I activity in mitochondria and an increased sensitivity to oxidant stress, which can both be rescued by exogenous expression of wild-type paraplegin. Furthermore, complementation studies in yeast demonstrate functional conservation of the human paraplegin–AFG3L2 complex with the yeast m-AAA protease and assign proteolytic activity to this structure. These results shed new light on the molecular pathogenesis of HSP and functionally link AFG3L2 to this neurodegenerative disease.

Atorino, Luigia; Silvestri, Laura; Koppen, Mirko; Cassina, Laura; Ballabio, Andrea; Marconi, Roberto; Langer, Thomas; Casari, Giorgio

2003-01-01

134

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.

2012-01-01

135

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

PubMed Central

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.

Klebe, Stephan; Lossos, Alexander; Azzedine, Hamid; Mundwiller, Emeline; Sheffer, Ruth; Gaussen, Marion; Marelli, Cecilia; Nawara, Magdalena; Carpentier, Wassila; Meyer, Vincent; Rastetter, Agnes; 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

2012-01-01

136

Marked hydronephrosis and hydroureter after distigmine therapy in an adult male patient with paraplegia due to spinal cord injury: a case report  

PubMed Central

Introduction Distigmine, a long-acting anti-cholinesterase, is associated with side effects such as Parkinsonism, cholinergic crisis, and rhabdomyolysis. We report a spinal cord injury patient, who developed marked hydronephrosis and hydroureter after distigmine therapy, which led to a series of complications over subsequent years. Case presentation A 38-year-old male developed T-9 paraplegia in 1989. Intravenous urography, performed in 1989, showed normal kidneys, ureters and bladder. He was prescribed distigmine bromide orally and was allowed to pass urine spontaneously. In 1992, intravenous urography showed bilateral marked hydronephrosis and hydroureter. Distigmine was discontinued. He continued to pass urine spontaneously. In 2006, intravenous urography showed moderate dilatation of both pelvicalyceal systems and ureters down to the level of urinary bladder. This patient was performing self-catheterisation only once a day. He was advised to do catheterisations at least three times a day. In December 2008, this patient developed haematuriawhich lasted for nearly four months.. He received trimethoprim, then cephalexin, followed by Macrodantin, amoxicillin and ciprofloxacin. In February 2009, intravenous urography showed calculus at the lower pole of left kidney. Both kidneys were moderately hydronephrotic. Ureters were dilated down to the bladder. Dilute contrast was seen in the bladder due to residual urine. This patient was advised to perform six catheterisations a day, and take propiverine hydrochloride 15 mg, three times a day. Microbiology of urine showed Klebsiella oxytoca, Pseudomonas aeruginosa, and Enterococcus faecalis. Cystoscopy revealed papillary lesions in bladder neck and trigone. Transurethral resection was performed. Histology showed marked chronic cystitis including follicular cystitis and papillary/polypoid cystitis. There was no evidence of malignancy. Conclusion Distigmine therapy resulted in marked bilateral hydronephrosis and hydroureter. Persistence of hydronephrosis after omitting distigmine, and presence of residual urine in bladder over many years probably predisposed to formation of polypoid cystitis and follicular cystitis, and contributed to prolonged haematuria, which occurred after an episode of urine infection. This case illustrates the dangers of prescribing distigmine to promote spontaneous voiding in spinal cord injury patients. Instead of using distigmine, spinal cord injury patients should be advised to consider intermittent catheterisation together with oxybutynin or propiverine to achieve complete, low-pressure emptying of urinary bladder.

Mansour, Paul; Soni, Bakul M; Hughes, Peter L; Singh, Gurpreet; Oo, Tun

2009-01-01

137

Measurement of peripheral muscle resistance in rats with chronic ischemia-induced paraplegia or morphine-induced rigidity using a semi-automated computer-controlled muscle resistance meter.  

PubMed

In experimental and clinical studies, an objective assessment of peripheral muscle resistance represents one of the key elements in determining the efficacy of therapeutic manipulations (e.g. pharmacological, surgical) aimed to ameliorate clinical signs of spasticity and/or rigidity. In the present study, we characterize a newly developed limb flexion resistance meter which permits a semi-automated, computer-controlled measurement of peripheral muscle resistance (PMR) in the lower extremities during a forced flexion of the ankle in the awake rat. Ischemic paraplegia was induced in Sprague-Dawley rats by transient aortic occlusion (10 min) in combination with systemic hypotension (40 mm Hg). After ischemia the presence of spasticity component was determined by the presence of an exaggerated EMG activity recorded from gastrocnemius muscle after nociceptive or proprioceptive afferent activation and by velocity-dependent increase in muscle resistance. Rigidity was induced by high dose (30 mg/kg, i.p.) of morphine. Animals with defined ischemic spasticity or morphine-induced rigidity were then placed into a plastic restrainer and a hind paw attached by a tape to a metal plate driven by a computer-controlled stepping motor equipped with a resistance transducer. The resistance of the ankle to rotation was measured under several testing paradigms: (i) variable degree of ankle flexion (40 degrees, 50 degrees, and 60 degrees), (ii) variable speed/rate of ankle flexion (2, 3, and 4 sec), (iii) the effect of inhalation anesthesia, (iv) the effect of intrathecal baclofen, (v) the effect of dorsal L2-L5 rhizotomy, or (vi) systemic naloxone treatment. In animals with ischemic paraplegia an increased EMG response after peripheral nociceptive or proprioceptive activation was measured. In control animals average muscle resistance was 78 mN and was significantly increased in animals with ischemic spasticity (981-7900 mN). In ischemic-spastic animals a significant increase in measured muscle resistance was seen after increased velocity (4 > 3 > 2 sec) and the angle (40 degrees > 50 degrees > 60 degrees) of the ankle rotation. In spastic animals, deep halothane anesthesia, intrathecal baclofen or dorsal rhizotomy decreased muscle resistance to 39-80% of pretreatment values. Systemic treatment with morphine induced muscle rigidity and corresponding increase in muscle resistance. Morphine-induced increase in muscle resistance was independent on the velocity of the ankle rotation and was reversed by naloxone. These data show that by using this system it is possible to objectively measure the degree of peripheral muscle resistance. The use of this system may represent a simple and effective experimental tool in screening new pharmacological compounds and/or surgical manipulations targeted to modulate spasticity and/or rigidity after a variety of neurological disorders such as spinal cord traumatic or ischemic injury, multiple sclerosis, cerebral palsy, or Parkinson's disease. PMID:16305323

Marsala, Martin; Hefferan, Michael P; Kakinohana, Osamu; Nakamura, Seiya; Marsala, Jozef; Tomori, Zoltan

2005-11-01

138

Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.  

PubMed

Hereditary spastic paraplegia (HSP) is a very heterogeneous disease, both genetically and clinically. To date, approximately 52 loci and 31 genes have been reported to be involved in the causality of HSP. The pattern of inheritance of the disease can be autosomal dominant, autosomal recessive, or X-linked recessive. Autosomal recessive HSP with thin corpus callosum (ARHSP-TCC) is one form of this disease, and a recessive gene, SPG11, is responsible for 41-77% of all ARHSP-TCC cases. SPG11 encodes the protein SPATACSIN, which is most prominently expressed in the cerebellum. However, little is known about its function. Despite diverse clinical presentations, diffuse hypometabolism in the cerebellum has not been reported previously. We have identified an HSP-TCC patient that presented with prominent intellectual disability rather than spasticity. (18)Fluorodeoxyglucose positron emission tomography/computed tomography ((18)FDG-PET/CT) examination showed diffuse hypometabolism in both cerebella. Mutation screening of the SPG11 gene using Sanger sequencing identified the novel compound heterozygous mutation c.[5121_5122insAG]+[6859C>T] (p.[I1708RfsX2]+[Q2287X]) in the patient. The mother bears the c.5121_5122insAG mutation, which results in a frameshift and is predicted to truncate the 735 amino acids from the C-terminus, and the father carries the c.6859C>T mutation, which terminates the 157 amino acids from the C-terminus. Therefore, these mutations may result in the loss of function of wild-type SPATACSIN. Our results suggest that SPATACSIN may be involved in cerebella metabolism, and the novel mutations provide more data for the mutational spectrum of this gene, which will aid in the development of quick and accurate genetic diagnostic tools for this disease. PMID:24315199

Ma, Jing; Xiong, Likuan; Chang, Yu; Jing, Xiangyi; Huang, Weijun; Hu, Bin; Shi, Xinchong; Xu, Weiping; Wang, Yiming; Li, Xunhua

2014-02-01

139

Successful pregnancy in a woman with paraplegia.  

PubMed

Pregnancy is a rare occurrence in patients suffering from spinal cord injury (SCI). Pregnancy in these patients presents unique challenges to obstetric care providers, who need to become familiar with the general principles of care in this setting. SCI alters the function of multiple organ systems and chronic medical conditions are common in this patient population. Certain medical complications such as urinary tract infections and autonomic hyper-reflexia, or autonomic dysreflexia, are expectable and can be managed successfully. A multidisciplinary team should care for delivery in these patients. The authors present a case of a pregnancy in a paraplegic woman whose lesion was at the level of T4. She received epidural analgesia and had a caesarian section. From this case, the authors aim to point out the specific concerns of the management of pregnancy and delivery in this setting emphasising the importance of a multidisciplinary team, specially obstetricians and anaesthetists. PMID:24671318

Castro, Jorge Santos; Lourenço, Cátia; Carrilho, Marcelina

2014-01-01

140

Genetics Home Reference: Spastic paraplegia type 7  

MedlinePLUS

... proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures ... there is a mutation in paraplegin, the m-AAA protease cannot function correctly. Nonfunctional m-AAA proteases ...

141

[Unconventional treatment procedures of the bladder in paraplegia and myelomeningocele].  

PubMed

The established treatment of neurogenic lower urinary tract dysfunction (NLUTD) in patients with spinal cord injury (SCI) or meningomyelocele (MMC) is mainly conservative and is aimed at the lower urinary tract. For example, oral antimuscarinic medication is the standard treatment of neurogenic detrusor overactivity. Recently, however, treatment aiming directly or indirectly at the innervation of the urinary tract has gained increasing attention. Current evidence does not justify the use of nerve rerouting but the existing preliminary data are more promising for MMC patients than for those with SCI. Sacral neuromodulation is already a therapeutic option for incomplete SCI patients. Initial data from a pilot study indicate that in patients with complete SCI implementation in the spinal shock phase may prevent the development of NLUTD. Licensing of onabotulinum toxin A (Botox®) facilitated its clinical use for treating NLUTD but it is limited to the indication of neurogenic detrusor overactivity incontinence with a dosage of 200 IU. The mentioned unconventional treatments, although discussed controversially, are promising future treatment options for NLUTD. PMID:23160608

Sievert, K-D; Kessler, T M; Amend, B; Kiss, G; Pannek, J

2012-12-01

142

Spinal Cord Meningioma: A Treatable Cause of Paraplegia  

PubMed Central

Chondrocalcinosis associated with Gitelman syndrome (GS) presents in young adults with either no symptoms or joint pain, muscle weakness, muscle cramps, paresthesias, episodes of tetany, or hypokalemic paralysis. Spinal cord meningiomas present with gradual onset of lower extremities weakness, numbness, pain, or balance problem. We report a 76 year old gentleman who presented with gradually progressive leg weakness puzzling the treating physicians.

Mittal, Manoj K.; Rabinstein, Alejandro A.

2012-01-01

143

Spinal cord meningioma: a treatable cause of paraplegia.  

PubMed

Chondrocalcinosis associated with Gitelman syndrome (GS) presents in young adults with either no symptoms or joint pain, muscle weakness, muscle cramps, paresthesias, episodes of tetany, or hypokalemic paralysis. Spinal cord meningiomas present with gradual onset of lower extremities weakness, numbness, pain, or balance problem. We report a 76 year old gentleman who presented with gradually progressive leg weakness puzzling the treating physicians. PMID:22870177

Mittal, Manoj K; Rabinstein, Alejandro A

2012-08-01

144

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

PubMed

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

2008-09-01

145

Linolenic acid prevents neuronal cell death and paraplegia after transient spinal cord ischemia in rats  

Microsoft Academic Search

PurposeSpinal cord ischemia is a devastating complication of thoracic and thoracoabdominal aortic surgery. Recent studies have suggested a neuroprotective effect of polyunsaturated fatty acids against cerebral ischemia. We investigated the effect of linolenic acid (LIN) in a rat model of spinal cord ischemia.

Loïc Lang-Lazdunski; Nicolas Blondeau; Gisèle Jarretou; Michel Lazdunski; Catherine Heurteaux

2003-01-01

146

Adolescent paraplegia, morbid obesity, and pickwickian syndrome: outcome of gastric bypass surgery  

Microsoft Academic Search

Loss of mobility, such as what occurs as a consequence of spinal cord injury or malformation, is a risk factor for excess weight gain and can confound weight management efforts. Despite well-documented outcomes of bariatric surgery in ambulatory patients, little information is available regarding weight loss surgery in adult or adolescent paraplegic patients. A 15-year-old adolescent boy with a body

Go Miyano; Maninder Kalra; Thomas H. Inge

2009-01-01

147

Schwann Cells Are Removed from the Spinal Cord after Effecting Recovery from Paraplegia  

Microsoft Academic Search

Remyelination of the CNS is necessary to restore neural function in a number of demyelinating conditions. Schwann cells, the myelinating cells of the periphery, are candidates for this purpose because they have more robust regenerative properties than their central homologs, the oligodendrocytes. Although the ability of Schwann cells to remyelinate the CNS has been demonstrated, their capacity to enter the

Luc Jasmin; Gabriella Janni; Theodore M. Moallem; Douglas A. Lappi; Peter T. Ohara

2000-01-01

148

"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.

2013-01-01

149

FES standing up in paraplegia: a comparative study of fixed parameter controllers  

Microsoft Academic Search

A computer model was developed as a test bed to aid the development and testing of FES controllers for assisting the sit to stand maneuver. Here, the authors illustrate its use by comparing the performance of two basic open-loop techniques used clinically and three experimental closed-loop control strategies. The simpler open loop control described by Kralj and Bajd (1989), was

Rahman Davoodi; Brian J. Andrews

1996-01-01

150

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

PubMed

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

2013-01-01

151

The Experience of Four Individuals with Paraplegia Enrolled in an Outpatient Interdisciplinary Sexuality Program  

Microsoft Academic Search

Spinal cord injury has a significant impact on an individual’s physical, emotional, as well as sexual functioning. Four consecutive\\u000a males with spinal cord injury were referred to the outpatient spinal cord injury sexuality program at an urban Veterans Affairs\\u000a Medical Center and seen by an interdisciplinary team comprised of a nurse, physician and psychologist. They felt that their\\u000a questions had

Marika J. Hess; Sigmund Hough; Elizabeth Tammaro

2007-01-01

152

Role of peripheral quantitative computed tomography in identifying disuse osteoporosis in paraplegia  

Microsoft Academic Search

Objective  Disuse osteoporosis is a major long-term health consequence of spinal cord injury (SCI) that still needs to be addressed.\\u000a Its management in SCI should begin with accurate diagnosis, followed by targeted treatments in the most vulnerable subgroups.\\u000a We present data quantifying disuse osteoporosis in a cross-section of the Scottish paraplegic population to identify subgroups\\u000a with lowest bone mineral density (BMD).

Sylvie Coupaud; Alan N. McLean; David B. Allan

2009-01-01

153

Corticospinal Reorganization after Locomotor Training in a Person with Motor Incomplete Paraplegia  

PubMed Central

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.

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

2013-01-01

154

Vertical ground reaction force-based analysis of powered exoskeleton-assisted walking in persons with motor-complete paraplegia  

PubMed Central

Objective To use vertical ground reaction force (vGRF) to show the magnitude and pattern of mechanical loading in persons with spinal cord injury (SCI) during powered exoskeleton-assisted walking. Research design A cross-sectional study was performed to analyze vGRF during powered exoskeleton-assisted walking (ReWalk™: Argo Medical Technologies, Inc, Marlborough, MA, USA) compared with vGRF of able-bodied gait. Setting Veterans Affairs Medical Center. Participants Six persons with thoracic motor-complete SCI (T1–T11 AIS A/B) and three age-, height-, weight- and gender-matched able-bodied volunteers participated. Interventions SCI participants were trained to ambulate over ground using a ReWalk™. vGRF was recorded using the F-Scan™ system (TekScan, Boston, MA, USA). Outcome measures Peak stance average (PSA) was computed from vGRF and normalized across all participants by percent body weight. Peak vGRF was determined for heel strike, mid-stance, and toe-off. Relative linear impulse and harmonic analysis provided quantitative support for analysis of powered exoskeletal gait. Results Participants with motor-complete SCI, ambulating independently with a ReWalk™, demonstrated mechanical loading magnitudes and patterns similar to able-bodied gait. Harmonic analysis of PSA profile by Fourier transform contrasted frequency of stance phase gait components between able-bodied and powered exoskeleton-assisted walking. Conclusion Powered exoskeleton-assisted walking in persons with motor-complete SCI generated vGRF similar in magnitude and pattern to that of able-bodied walking. This suggests the potential for powered exoskeleton-assisted walking to provide a mechanism for mechanical loading to the lower extremities. vGRF profile can be used to examine both magnitude of loading and gait mechanics of powered exoskeleton-assisted walking among participants of different weight, gait speed, and level of assist.

Fineberg, Drew B.; Asselin, Pierre; Harel, Noam Y.; Agranova-Breyter, Irina; Kornfeld, Stephen D.; Bauman,, William A.; Spungen, Ann M.

2013-01-01

155

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.

2012-01-01

156

Mitochondrial involvement in Parkinson’s disease, Huntington’s disease, hereditary spastic paraplegia and Friedreich’s ataxia  

Microsoft Academic Search

Respiratory chain dysfunction has been identified in several neurodegenerative disorders. In Friedreich’s ataxia (FA) and Huntington’s disease (HD), where the respective mutations are in nuclear genes encoding non-respiratory chain mitochondrial proteins, the defects in oxidative phosphorylation are clearly secondary. In Parkinson’s disease (PD) the situation is less clear, with some evidence for a primary role of mitochondrial DNA in at

A. H. V. Schapira

1999-01-01

157

Quality of life and self-esteem in patients with paraplegia and pressure ulcers: A controlled cross-sectional study.  

PubMed

Objective: To evaluate health-related quality of life (HRQoL) and self-esteem in patients with traumatic spinal cord injury (SCI) and pressure ulcers. Method: This study was a controlled cross-sectional study. HRQoL was assessed using the generic Medical Outcomes Study 36-Item Short Form Health Survey (SF-36) questionnaire and the Rosenberg Self-Esteem/UNIFESP-EPM Scale. A total of 120 patients with traumatic SCI were included in the sample, of which 60 had pressure ulcers and were assigned to the study group, and 60 had no pressure ulcers and were assigned to the control group. Statistical analysis was performed using the chi-square test, Fisher's exact test, and Student's t-test. Results: Of the 60 patients in the study group, 83.3% were men and the mean age was 38.17 years (SD = 9.08 years). When compared with controls, patients in the study group reported significantly lower scores (worse health status) on all SF-36 subscales (p less than or equal to 0.0013) except for general health (p=0.109). The RSE/UNIFESP-EMP scale total score indicated that patients with pressure ulcers had significantly lower self-esteem than controls (p<0.001). Conclusion: Pressure ulcers had an adverse impact on the HRQoL and self-esteem of patients with SCI. Declaration of interest: There were no external sources of funding for this study. The authors have no conflicts of interest to declare. PMID:24920204

Lourenco, L; Blanes, L; M Salomé, G; M Ferreira, L

2014-06-01

158

Measuring dynamic stability requirements during sitting pivot transfers using stabilizing and destabilizing forces in individuals with complete motor paraplegia.  

PubMed

Dynamic stability requirements have never been quantified when long-term manual wheelchair users transfer themselves in a seated position from an initial surface to a target surface, a functional task commonly referred to as sitting pivot transfers (SPTs). Ten individuals with spinal cord injury (SCI), who rely on a manual wheelchair for mobility, underwent a comprehensive biomechanical SPT assessment. SPTs performed toward a target seat of same height (even) and a seat 10cm higher than the initial seat (uneven), repeated three times for each task, were assessed. A dynamic equilibrium model, continuously measuring the theoretical forces required to move the center of pressure to the limit of the base of support (destabilizing force) and to neutralize the kinetic energy and stop the displacement of the center of mass at the limit of the base of support (stabilizing force) at each instance during the performance of SPTs, was used to identify the phases of greatest instability during the SPT tasks. The greatest levels of instability were reached around the time the buttocks lost contact with the initial seat and around the time the buttocks landed on the target seat (pre- and post-lift transition phases). These transition periods, characterized by the lowest destabilizing force (424.7-487.1N) and the greatest stabilizing force (24.2-33.2N), confirmed the greatest level of instability. The height of the target seat had no significant effect (p=0.278-0.739) on dynamic postural stability requirements during the SPTs. During SPTs towards even and uneven target seats, the greatest postural instability occurs during the transition phases in individuals with complete motor thoracic SCI. PMID:22420930

Gagnon, Dany; Duclos, Cyril; Desjardins, Pierre; Nadeau, Sylvie; Danakas, Michel

2012-05-11

159

Effect of vibration stimulation on dysbasia of spastic paraplegia in neuromyelitis optica: a possible example of neuronal plasticity.  

PubMed

We analysed the effect of vibration stimulation (VS) on dysbasia of neuromyelitis optica (NMO). The patient was a 36-year-old woman who was diagnosed with NMO and had difficulties in walking. VS was applied to the lower limb muscles on the left, more spastic, side with an ordinary vibrator. The performance of standing up and walking improved with VS. Even with improved performance after VS, the amount of surface EMG of the lower limbs did not increase as a whole, but the EMG patterns among the lower leg muscles changed remarkably. VS produced reciprocity within antagonistic muscles. Variability of EMG amplitudes decreased remarkably during the walking cycle, not only on the vibrated side, but also on the non-vibrated side. The effect lasted longer than several dozen minutes after the cessation of VS. We conjectured that central pattern generator (CPG) and neuronal plasticity were the result of VS. PMID:23045444

Lin, Hsin-Ni; Nagaoka, Masanori; Hayashi, Yasuko; Hatori, Kozo

2012-01-01

160

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

2011-01-01

161

16 CFR 1207.1 - Scope, purpose, and findings.  

Code of Federal Regulations, 2010 CFR

...swimming pool slides. These risks are (i) quadriplegia and paraplegia resulting from users (primarily adults using the swimming...revised standard does not address the risk of quadriplegia and paraplegia (except insofar as the standard specifies a low angle...

2010-01-01

162

16 CFR 1207.1 - Scope, purpose, and findings.  

Code of Federal Regulations, 2010 CFR

...swimming pool slides. These risks are (i) quadriplegia and paraplegia resulting from users (primarily adults using the swimming...revised standard does not address the risk of quadriplegia and paraplegia (except insofar as the standard specifies a low angle...

2009-01-01

163

Preliminary study for the assessment of physical activity using a triaxial accelerometer with a gyro sensor on the upper limbs of subjects with paraplegia driving a wheelchair on a treadmill.  

PubMed

Objective:This study aimed to examine whether, on the basis of the relationship between sensors attached on the upper limbs and energy expenditure (EE) at the time of wheelchair propulsion, there are differences in the measurement of EE depending on the sensor attachment site and whether addition of the angular velocity information to the acceleration value is advantageous. We also aimed to clarify the variables used to estimate EE as well as the estimated error.Setting:Laboratory of the National Hospital Organization Murayama Medical Center, Japan.Methods:Six male subjects with spinal cord injuries participated in the study. Each wore sensors at the wrist and the middle upper arm on both sides while driving a wheelchair on a treadmill at three levels: very, very light; very light; and fairly light. Triaxial acceleration, triaxial angular velocity and EE were measured during driving. We analyzed the correlation between EE and acceleration, angular velocity and synthesized values of acceleration and angular velocity at each location using regression, multiple regression and Bland-Altman analyses.Results:The determination coefficients between EE and the acceleration, angular velocity and synthesized values of acceleration and angular velocity varied from 0.68 to 0.87 at each location. The mean difference between the measured and estimated EE varied from 0.0028 (s.d., 0.0027) kcal?min(-1)?kg(-1) on the right upper arm.Conclusion:These findings suggest that combining the synthesized values of angular velocity and acceleration of the motion sensors on the upper limbs might reflect EE during a wheelchair driving activity on a treadmill. PMID:24819509

Kiuchi, K; Inayama, T; Muraoka, Y; Ikemoto, S; Uemura, O; Mizuno, K

2014-07-01

164

The QT Variability Index and Cardiac Autonomic Modulation: Perspectives from Apparently Healthy Men with Spinal Cord Injury  

Microsoft Academic Search

Objective: To describe the effect of spinal cord injury (SCI) on the QT variability index (QTVI). Methods: Digital electrocardiograms from 113 age-matched men (40 with tetraplegia, 26 with high paraplegia, 17 low paraplegia and 31 controls) were analyzed. RR interval, heart rate (HR) variability [total power (TPRR), low frequency (LFRR) and high frequency (HFRR)], QT interval duration, Bazett HR-corrected QT

Michael F. La Fountaine; Jill M. Wecht; Dwindally Rosado-Rivera; Christopher M. Cirnigliaro; Ann M. Spungen; William A. Bauman

2010-01-01

165

16 CFR 1116.2 - Definitions.  

Code of Federal Regulations, 2010 CFR

...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 paresis, to any degree; (vi) Blindness or permanent loss, to any...

2009-01-01

166

Genetics Home Reference: Troyer syndrome  

MedlinePLUS

... ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Conditions > Troyer syndrome On this page: Description ... Troyer syndrome is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are ...

167

Meningocele repair - series (image)  

MedlinePLUS

The long-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.

168

16 CFR 1116.2 - Definitions.  

Code of Federal Regulations, 2010 CFR

...e.g. epilepsy), and brain or brain stem injury including coma and spinal cord injuries; (v) Paraplegia, quadriplegia, or permanent...smell, touch, or taste; (vii) Any back or neck injury requiring surgery, or any injury...

2010-01-01

169

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

2009-01-01

170

The effect of level of spinal cord injury on shoulder joint kinetics during manual wheelchair propulsion  

Microsoft Academic Search

Objective. The effects of spinal cord injury level on shoulder kinetics during manual wheelchair propulsion were studied.Design. Single session data collection in a laboratory environment.Methods. Male subjects were divided into four groups: low level paraplegia (n=17), high level paraplegia (n=19), C7 tetraplegia (C7, n=16) and C6 tetraplegia (C6, n=17). Measurements were recorded using a six-camera VICON motion analysis system, a

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

2001-01-01

171

FES of lower extremities: Comparison of rehabilitation strategies and stimulation equipment in patients with upper \\/ lower motor neuron lesion  

Microsoft Academic Search

http:\\/\\/www.meduniwien.ac.at\\/zbmtp\\/bmt\\/ Abstract Functional Electrical Stimulation (FES) of lower extremities in patients suffering from paraplegia can be used to restore standing up from the wheelchair, standing, walking \\/ stepping and sitting down. Usually only patients with an intact lower motor neuron (spastic paraplegia) can benefit while patients with flaccid paralysis are excluded due to the inexistent or very weak force response

Bijak M; Hofer C; Rakos M; Kern H; Mayr W

2006-01-01

172

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: John.Reidy@gstt.nhs.uk

2007-09-15

173

Paraplegic Neurodeficit Management Post Endovascular Graft: A Rare Case of Aortic Dissection  

PubMed Central

Acute aortic dissection is a catastrophic episode that usually presents as a sudden, painful, ripping sensation in the chest or back. It is associated with neurologic sequelae in as many as one-third of patients. We report a case of aortic dissection, presenting as acute paraplegia. A 50-year-old patient presented to us with chief complaints of paraplegia and back pain. On examination, strength was 5/5 in both upper extremities and 0/5 in both lower extremities. Deep tendon reflexes were absent in her legs. CT angiogram of aorta Aortic Dissection Stanford type B / De-Bakey type –III. Patient was treated with endovascular graft for aortic dissection, paraplegia recovered completely.

Kanse, Vilas Yadavarao; Chongtham, Dhanaraj Singh; Nemichandra, S C; Salam, Kenny Singh

2013-01-01

174

Sympathetic nervous system activity and cardiovascular homeostatis during head-up tilt in patients with spinal cord injuries.  

PubMed

The relationship between sympathetic nervous system activity and cardiovascular responses to head-up tilt in patients with spinal cord injuries and in able-bodied subjects was studied. Twenty-seven adults, nine in each of the three groups (tetraplegia, paraplegia, and able-bodied subjects) were tilted 70 degrees, head up, for 12 minutes after 20 minutes supine rest. Differences between steady-state measurements of mean arterial pressure, stroke volume, and sympathetic nervous system activity were estimated in both positions. Sympathetic nervous system activity was reflected by the low-frequency peak of the blood pressure variability spectrum. From supine rest to head-up tilt, low-frequency power increased in able-bodied subjects (median, 0.42 mm Hg2, p = 0.003), which was different (p = 0.015) from patients with tetraplegia and paraplegia (-0.15 and -0.10 mm Hg2, respectively). Stroke volume and mean arterial pressure decreased in patients with tetraplegia (-40% and -9 mm Hg, respectively; p = 0.008, both variables) more than in able-bodied subjects (-33%, 11 mm Hg, respectively) or patients with paraplegia (-24%, 8 mm Hg, respectively). Results indicated increased sympathetic nervous system activity during head-up tilt in able-bodied subjects, but not in patients with paraplegia or tetraplegia, whereas patients with tetraplegia, but not paraplegia, showed poorer cardiovascular homeostasis than able-bodied subjects. This suggests that patients with paraplegia maintained cardiovascular homeostasis during head-up tilt without increased sympathetic nervous system activity. PMID:11029019

Houtman, S; Oeseburg, B; Hughson, R L; Hopman, M T

2000-08-01

175

Malignant Rhabdoid Tumor of the Kidney and Spine in an Infant  

PubMed Central

Rhabdoid tumor of the kidney (RTK) is a rare malignancy in infancy. Central nervous system involvement in RTK is already known. However, solitary spinal metastasis in RTK has been hardly reported. The authors report a case of metastatic RTK to spine causing paraplegia in an 8-month-old girl. Since the patient was young, the diagnosis of spine metastasis was delayed until paraplegia was seen after radical nephrectomy. Thorough neurological examination should be performed for early diagnosis of spinal metastasis in young patients with RTK. If there are any abnormal signs in neurologic examination, magnetic resonance images of brain and spine are recommended.

Park, Sejun; Seo, Jae-Hee; Park, Jun Bum

2014-01-01

176

Control of posture with FES systems  

Microsoft Academic Search

One of the major obstacles in restoration of functional FES supported standing in paraplegia is the lack of knowledge of a suitable control strategy. The main issue is how to integrate the purposeful actions of the non-paralysed upper body when interacting with the environment while standing, and the actions of the artificial FES control system supporting the paralyzed lower extremities.

Z Matjacic; K Hunt; H Gollee; T Sinkjaer; J. B. Wagenaar

2003-01-01

177

Syndrome de l'artère mésentérique supérieure  

Microsoft Academic Search

The superior mesenteric artery syndrome (SMAS) is a rare complication of spine surgery. A series of four patients who experienced a SMAS after surgery for either post-traumatic quadriplegia, paraplegia or scoliosis is reported. SMAS is a condition in which the third portion of the duodenum is squeezed between the superior mesenteric artery anteriorly, and the aorta and vertebral column posteriorly.

T. Loeb; G. Loubert; R. Morsly; J. M. Gabillet; J. Pasteyer

1999-01-01

178

Spinal aneurysmal bone cyst causing acute cord compression without vertebral collapse: CT and MRI findings  

Microsoft Academic Search

Aneurysmal bone cyst (ABC) of the spine can cause acute spinal cord compression in young patients. We report the CT and MRI findings in a histology-proven case of spinal ABC presenting with sudden paraplegia. Typical features of a spinal ABC at the thoracic level with considerable extension into the posterior epidural space and cord compression were demonstrated. Special note was

Monica S. M. Chan; Yiu-Chung Wong; Ming-Keung Yuen; Dicky Lam

2002-01-01

179

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.

2009-01-01

180

Cardiovascular Responses to Endotracheal Intubation in Patients with Acute and Chronic Spinal Cord Injuries  

Microsoft Academic Search

Endotracheal intubation usually causes transient hy- pertension and tachycardia. We investigated whether the cardiovascular responses to intubation change as a functionofthetimeelapsedinpatientswithspinalcord injury. One-hundred-six patients with traumatic com- plete spinal cord injury were grouped into acute and chronic groups according to the time elapsed (less than and more than 4 wk after injury) and into those with quadriplegia and paraplegia according

Kyung Y. Yoo; Seong W. Jeong; Seok J. Kim; In H. Ha; JongUn Lee

2003-01-01

181

Influence of spinal cord injury on cerebral sensorimotor systems: a PET study  

Microsoft Academic Search

OBJECTIVES: To assess the effect of a transverse spinal cord lesion on cerebral energy metabolism in view of sensorimotor reorganisation. METHODS: PET and 18F-fluorodeoxyglucose were used to study resting cerebral glucose metabolism in 11 patients with complete paraplegia or tetraplegia after spinal cord injury and 12 healthy subjects. Regions of interest analysis was performed to determine global glucose metabolism (CMRGlu).

U Roelcke; A Curt; A Otte; J Missimer; R P Maguire; V Dietz; K L Leenders

1997-01-01

182

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.

1994-01-01

183

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

2012-01-01

184

Acute Pneumococcal Myelitis in an Adult Patient  

PubMed Central

Pneumococcal meningitis represents the most severe community-acquired bacterial meningitis. The disease is frequently associated with various complications. We present a case of pneumococcal meningitis in an immunocompetent adult patient treated with hypothermia. The disease course was complicated with severe myelitis and consequent paraplegia which is an extremely rare complication of pneumococcal disease.

Viskovic, Klaudija; Mustapic, Matej; Kutlesa, Marko; Lepur, Dragan

2014-01-01

185

A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease  

Microsoft Academic Search

Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder due to mutations in the proteolipid protein (PLP) gene. PLP gene mutations are responsible for a broad spectrum of disease, from the most severe form, connatal PMD, to a less severe form, spastic paraplegia 2 (SPG2). We describe here a very mild case of PMD in a patient who presented with nystagmus

Tetsuya Kibe; Jun Miyahara; Kenji Yokochi; Akiko Iwaki

2009-01-01

186

Genetics of motor neuron disorders: new insights into pathogenic mechanisms  

Microsoft Academic Search

The past few years have seen the identification of dozens of genes with causal roles in motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary spastic paraplegia. Although many additional MND genes remain to be identified, the accumulated genetic evidence has already provided new insights into MND pathogenesis, which adds to the well-established involvement of superoxide dismutase 1

Patrick A. Dion; Hussein Daoud; Guy A. Rouleau

2009-01-01

187

Thoracic disc herniation: a diagnostic challenge  

Microsoft Academic Search

An unusual case of lower thoracic disc herniation combined with shoulder pain is presented in this case report, A literature search showed that shoulder pain associated with a lower thoracic disc herniation has not yet been reported. An acromioplasty for chronic impingement syndrome was performed to relieve the patient's shoulder symptoms. An unsatisfactory outcome plus a progressive but incomplete paraplegia,

Axel Wilke; Udo Wolf; Peter Lageard; Peter Griss

2000-01-01

188

Dermoid cyst with dermal sinus tract complicated with spinal subdural abscess  

Microsoft Academic Search

Spinal subdural abscess caused by spread of infection with the dermal sinus tract is rare in children. This article reports on a 1-year-old male with prolonged fever, progressive paraplegia, and bowel and bladder dysfunction resulting from a spinal subdural abscess secondary to an infected spinal dermoid cyst with a dermal sinus tract. This is the youngest patient to be reported

Chen-Yin Chen; Kuang-Lin Lin; Huei-Shyong Wang; Tai-Ngar Lui

1999-01-01

189

Anterior lumbosacral radiculopathy after intrathecal methotrexate treatment  

Microsoft Academic Search

Intrathecal chemotherapy with methotrexate or cytosine arabinoside is the standard approach to prophylaxis and treatment of central nervous system leukemia in children. Progressive paraplegia, one of the devastating neurologic complications related to this mode of treatment, has been attributed to spinal cord toxicity. Reported are three children who developed progressive paraparesis after intrathecal methotrexate administration followed by complete or partial

Susan Koh; Marvin D Nelson; Arzu Kovanlikaya; Lan S Chen

1999-01-01

190

Anterior spinal cord injury with preserved neurogenic ‘motor’ evoked potentials  

Microsoft Academic Search

Objective: To describe two cases in which intraoperative monitoring of neurogenic ‘motor’ evoked potentials (NMEPs) did not identify a spinal cord injury that resulted in paraplegia.Methods: Bilateral tibial nerve somatosensory evoked potential (SEP) and NMEP testing was performed in two patients during spinal deformity corrective surgery using standard stimulation and recording parameters. These potentials were obtained repetitively throughout the primary

Robert E Minahan; Jehuda P Sepkuty; Ronald P Lesser; Paul D Sponseller; John P Kostuik

2001-01-01

191

680. Lipid-Mediated HSP27 Delivery Improves Functional Recovery Following Moderate Spinal Cord Contusion Injury  

Microsoft Academic Search

There are approximately 11,000 new spinal cord injury cases per year, the majority of these cases occurring in males (80%) between the ages of 16 and 30. Tetraplegia and paraplegia each accounts for approximately 50% of patient outcomes. The functional outcome of SCI is determined by the cumulative cell death resulting from both the acute phase of injury, involving mechanical

Justine J. Overman; Leon L. Hall

2004-01-01

192

Multilevel somatosensory evoked potentials (SEPs) for spinal cord monitoring in descending thoracic and thoraco-abdominal aortic surgery  

Microsoft Academic Search

The usefulness of somatosensory evoked potential (SEP) monitoring as a means of preventing paraplegia in descending aorta surgery was evaluated in 47 consecutive cases operated on for isthmic (14 cases), thoracic (22 cases), or thoraco-abdominal (11 cases) repair. An aortic dissection was found in 11 cases (acute in 6). Somatosensory evoked potentials were obtained by unilateral left and right posterior

A. Matta; R VERHELST; J RUBAY; G KHOURY; R DION

1996-01-01

193

Novel Cyclovirus in Human Cerebrospinal Fluid, Malawi, 2010-2011  

PubMed Central

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.

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

2013-01-01

194

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

2008-01-01

195

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

2004-01-01

196

Therapeutic interventions after spinal cord injury  

Microsoft Academic Search

Spinal cord injury (SCI) can lead to paraplegia or quadriplegia. Although there are no fully restorative treatments for SCI, various rehabilitative, cellular and molecular therapies have been tested in animal models. Many of these have reached, or are approaching, clinical trials. Here, we review these potential therapies, with an emphasis on the need for reproducible evidence of safety and efficacy.

Sandrine Thuret; Lawrence D. F. Moon; Fred H. Gage

2006-01-01

197

Spinal cord injuries in Enugu, Nigeria—Preventable accidents  

Microsoft Academic Search

This is a review of 72 patients who were treated for Spinal Cord Injuries in the University of Nigeria Teaching Hospital, Enugu, Nigeria, during the period January 1980 to January 1985. There were 20 patients who had tetraplegia as a result of their injuries and 52 with paraplegia. All the patients were treated conservatively.The catchment area of the hospital is

C A Okonkwo

1988-01-01

198

Reproducibility and effect of posture on impulse oscillation parameters in persons with spinal cord injury  

PubMed Central

Background The impulse oscillation system (IOS) offers significant value in the assessment of airway dynamics in persons with spinal cord injury (SCI) because of minimal patient effort but measurement reproducibility in SCI is unknown. Objective To evaluate between-day reproducibility and the effect of posture on airway resistance [respiratory resistances at 5 Hz (R5) and 20 Hz (R20)] in subjects with tetraplegia, paraplegia and able-bodied controls. Methods Ten subjects with tetraplegia, 10 subjects with paraplegia and 11 able-bodied individuals were evaluated using IOS. Three 30 second trials were obtained in each while in the seated and supine position on Day 1, and repeated on Day 2. Results The within-day coefficient of variation (CV%) for R5 and R20 were comparable in the 3 study groups in the seated and supine positions. Compared to controls, the between-day CV% for the combined data was higher in subjects with tetraplegia and paraplegia for R5 seated, and was higher in subjects with tetraplegia for R5 supine. Conclusions IOS has applicability to the study of within-day respiratory resistance in SCI. However, performing longer-term studies in subjects with tetraplegia and paraplegia may be problematic because of the greater variability for R5 when compared to able-bodied individuals.

Cirnigliaro, Christopher M.; Lesser, Marvin; Moyer, Jeremy; Kirshblum, Steven C.; Bauman, William A.; Spungen, Ann M.

2012-01-01

199

Fulminant monophasic multiple sclerosis, Marburg's type  

Microsoft Academic Search

The clinical, neuroradiological and necropsy findings are described in a 49 year old woman with long-standing idiopathic pulmonary haemosiderosis and acute monophasic multiple sclerosis (Marburg's type). Progression of the demyelinating process produced blindness and paraplegia over three weeks. At five weeks, magnetic reasonance imaging (MRI) studies showed lesions in the pons and left occipital lobe. The patient died 10 weeks

M D Johnson; P Lavin; W O Whetsell

1990-01-01

200

Major neurological sequelae of lumbar epidural anesthesia  

Microsoft Academic Search

We here report the major permanent neurological complications that developed in three patients after epidural anesthesia. MR clearly showed that paraplegia, which arose one and nine days after anesthesia, was due to epi-subdural haematoma in the first case and epidural abscess in the second. The sudden left lower limb palsy in the third patient was caused by a paracentral ischemic

F. Barontini; P. Conti; G. Marello; S. Maurri

1996-01-01

201

Femoral fracture and iatrogenic hyperthyroidism in spinal cord injury  

Microsoft Academic Search

Analysis of the clinical case of a male aged 30 years, presenting with T6 complete paraplegia in 1991, demonstrated the existence of aggravating factors for disuse osteoporosis of spinal cord injury, possibly leading to bone density values below the fracture threshold with the risk of spontaneous fractures. This patient was admitted to hospital for multiple pressure sores requiring prolonged local

E Valayer-Chaleat; P Calmels; P Giraux; I Fayolle-Minon

1998-01-01

202

Protecting the ischemic spinal cord during aortic clamping. The influence of anesthetics and hypothermia.  

PubMed Central

Infrarenal circumaortic occlusion devices were operatively placed in 74 New Zealand white rabbits. Two days after operation the animals were randomly assigned to one of seven treatment groups: I, control, n = 23; II, halothane, n = 8; III, thiopental, n = 12; IV, ketamine (30 mg/kg intravenously), n = 6; V, halothane+hypothermia, n = 8; VI, thiopental+hypothermia, n = 12; VII, ketamine+hypothermia, n = 5. In each group, the infrarenal aorta was occluded for 21 minutes. Final neurologic recovery after restitution of blood flow was graded as acute paraplegia, delayed paraplegia (neurologic deficit developing after initial recovery), or normal. Halothane alone was of no benefit. Hypothermia with any anesthetic was completely protective and reduced neurologic deficits to 0% compared with 91% in controls (p less than 0.05). Thiopental and ketamine treatment each reduced acute paraplegia to 17% (as compared with 61% in controls) and increased delayed paraplegia from 30% in controls to 75% and 50%, respectively (p less than 0.05 for thiopental, p = 0.10 for ketamine). The authors interpret the increase in delayed deficits and decrease in acute deficits as being the result of partial spinal cord protection. These findings document that this model of spinal cord ischemia is sufficiently sensitive to identify interventional treatments that protect the ischemic spinal cord. Images FIG. 3. FIG. 4. FIG. 5.

Naslund, T C; Hollier, L H; Money, S R; Facundus, E C; Skenderis, B S

1992-01-01

203

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

2006-01-01

204

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

2013-01-01

205

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

1998-01-01

206

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration  

PubMed Central

Fatty acid hydroxylase-associated neurodegeneration due to fatty acid 2-hydroxylase deficiency presents with a wide range of phenotypes including spastic paraplegia, leukodystrophy, and/or brain iron deposition. All previously described families with this disorder were consanguineous, with homozygous mutations in the probands. We describe a 10-year-old male, from a non-consanguineous family, with progressive spastic paraplegia, dystonia, ataxia, and cognitive decline associated with a sural axonal neuropathy. The use of high-throughput sequencing techniques combined with SNP array analyses revealed a novel paternally derived missense mutation and an overlapping novel maternally derived ?28-kb genomic deletion in FA2H. This patient provides further insight into the consistent features of this disorder and expands our understanding of its phenotypic presentation. The presence of a sural nerve axonal neuropathy had not been previously associated with this disorder and so may extend the phenotype.

Pierson, Tyler Mark; Simeonov, Dimitre R; Sincan, Murat; Adams, David A; Markello, Thomas; Golas, Gretchen; Fuentes-Fajardo, Karin; Hansen, Nancy F; Cherukuri, Praveen F; Cruz, Pedro; Blackstone, Craig; Tifft, Cynthia; Boerkoel, Cornelius F; Gahl, William A

2012-01-01

207

CT-guided transforaminal cervical and lumbar epidural injections.  

PubMed

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

2012-09-01

208

Holocord abscess in association with congenital dermal sinus  

PubMed Central

Intramedullary spinal cord abscess in children is rare and holocord abscess is rarer. An 18-month-old girl presented with rapidly progressive paraplegia with fever for 2 months. The patient had complete flaccid paraplegia with absent sensation below D4 level. There was very small dermal sinus discharging pus in the lower lumbar region. Magnetic resonance imaging showed evidence of extensive multiloculated intramedullary abscess extending from D4 to L5 with cord edema upto cervical level. Laminotomy, excision of the dermal sinus and myelotomy, and evacuation of intramedullary abscess was performed. Escherichia coli and Pseudomonas were grown on culture. The child was treated with long-term parenteral antibiotics and started showing neurological improvement. Holocord abscess secondary to congenital dermal sinus is extremely rare and this is only the fourth report of such an instance.

Ramesh, Vengalathur Ganesan; Karthikeyan, Kavindapadi Veerasamy; Kitchanan, Srinivasan; Sriraman, Balakrishnan

2013-01-01

209

Traumatic cervical epidural hematoma in an infant  

PubMed Central

An 8-month-old male infant had presented with a history of a fall from the crib a fortnight ago. He had developed progressive weakness of both lower limbs. On examination, the infant had spastic paraplegia. Magnetic resonance (MR) imaging of the cervical spine showed an epidural hematoma extending from the fourth cervical (C4) to the first dorsal (D1) vertebral level with cord compression. The patient had no bleeding disorder on investigation. He underwent cervical laminoplasty at C6 and C7 levels. The epidural hematoma was evacuated. The cervical cord started pulsating immediately. Postoperatively, the patient's paraplegia improved dramatically in 48 hours. According to the author's literature search, only seven cases of post-traumatic epidural hematoma have been reported in pediatric patients, and our patient is the youngest. The present case report discusses the etiopathology, presentation, and management of this rare case.

Rangarajan, Vithal; Mavani, Sandip B; Nadkarni, Trimurti D; Goel, Atul H

2013-01-01

210

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

2010-01-01

211

Multiple Myeloma: Presenting as a Neurological Disorder  

PubMed Central

A case is reported of multiple myeloma presenting with signs and symptoms of paraplegia in a patient with a history of hypertension and remote cerebral vascular accident. The laboratory findings of hyperproteinemia and uricemia suggest a protein synthesizing abnormality. This case emphasizes that most patients with protein abnormality should be investigated by protein electrophoresis and immunoelectrophoresis. Unusual clinical presentation of multiple myeloma may result in an erroneous diagnosis unless proper investigation in the appropriate line is made. ImagesFigure 1Figure 2

Sen, Sisir Kumar; Hunter, Samuel B.; Dent, Carl A.; Green, Louis D.

1980-01-01

212

Spinal subdural haematoma: how relevant is the INR?  

Microsoft Academic Search

Study design: Case report.Objective: To report a rare cause of spinal cord compression.Setting: University Hospital, Wales, UK.Case report: A 67-year-old gentleman on oral anticoagulation for atrial fibrillation presented with a 4-h history of progressive loss of sensation and weakness in both legs; there was no history of trauma. On examination, he had a flaccid paraplegia with altered sensation in the

D R Miller; A Ray; M D Hourihan

2004-01-01

213

Vertebral fracture, extensor hypertonia of thoracic limbs, and paralysis of pelvic limbs (Schiff-Sherrington syndrome) in an Arabian foal.  

PubMed

An Arabian foal, which was recumbent for 4 days, had signs of extensor rigidity of the thoracic limbs and hypotonic paralysis of the pelvic limbs. Survey radiography revealed a lesion at T15, with radiographic impression of a compression fracture or a hemivertebra. Postmortem examination revealed a fracture at T15. Clinical and pathologic findings in this case were compatible with the Schiff-Sherrington syndrome, which is characterized by thoracic limb extensor hypertonia associated with paraplegia from acute thoracolumbar trauma. PMID:3972699

Chiapetta, J R; Baker, J C; Feeney, D A

1985-02-15

214

Exercise effect with the wheelchair aerobic fitness trainer on conditioning and metabolic function in disabled persons: A pilot study  

Microsoft Academic Search

Objective: To determine the effect of exercise with the wheelchair aerobic fitness trainer (WAFT) on anthropometric indices, conditioning, and endocrine and metabolic parameters in persons with lower extremity disability.Design: Exercise sessions with the WAFT lasted 20 to 30 minutes for two to three sessions.Setting: Tertiary-care Veterans Administration medical center.Participants: Twelve subjects (3 with quadriplegia, 7 with paraplegia, 1 with cerebrovascular

Meena Midha; James K. Schmitt; Michele Sclater

1999-01-01

215

Do spinal cord injury patients always get the best treatment for neuropathic bladder after discharge from regional spinal injuries centre?  

Microsoft Academic Search

Objective: To draw attention to inadequate care received by some spinal cord injury patients after discharge from the regional spinal injury center.Setting: Regional Spinal Injuries Centre, Southport, UK.Methods: Presence of the urethral stricture was not recognised in a 69-year-old male with T-3 paraplegia, who attended a health-care facility with a urinary infection. A Foley catheter was inserted into the urethra

S Vaidyanathan; G Singh; B M Soni; P L Hughes; Paul Mansour; T Oo; J Bingley; P Sett

2004-01-01

216

Compression of femoral vein by the strap of a urine-collecting device in a spinal cord injury patient  

Microsoft Academic Search

Objective: To report an unusual cause of femoral vein compression in a spinal cord injury (SCI) patient.Design: A case report of a SCI patient in whom the strap of a urinal produced compression of femoral vein.Setting Regional Spinal Injuries Centre, Southport, England.Subject: A 65-year old male, who had sustained paraplegia at T-10 level 33 years ago, attended the spinal unit

S Vaidyanathan; R Parry; BM Soni; G Singh; P Sett

2001-01-01

217

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

1996-01-01

218

Effect of spinal cord injury upon prostate: adenocarcinoma of prostate in a spinal cord injury patient - a case report  

Microsoft Academic Search

INTRODUCTION: Following spinal cord injury, prostate undergoes atrophy probably due to interruption of neuro-hormonal pathways. The incidence of carcinoma of prostate is lower in patients with spinal cord injury above T-10 than in those with lesion below T-10. CASE PRESENTATION: A Caucasian male sustained T-4 paraplegia in 1991 at the age of 59-years. He had long-term indwelling urethral catheter. In

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

2009-01-01

219

Blunted heart rate response to vagal withdrawal in persons with tetraplegia  

Microsoft Academic Search

Cardiovascular autonomic mechanisms control heart rate (HR) and determination of heart rate variability (HRV) permits the\\u000a quantitative assessment of relative shifts in autonomic cardiac control during head-up tilt (HUT). The study herein used HRV\\u000a techniques to determine the vagal and sympathetic contribution to the change in HR during HUT in persons with tetraplegia\\u000a (T; n = 7) paraplegia (P; n = 7) and a

Jill M. Wecht; Joseph P. Weir; William A. Bauman

2006-01-01

220

Control of Incontinence in Supra-sacral Spinal Cord Injury Patient using Cyclic Short-Duration Dorsal Penile Nerve Stimulation: A Case Report  

Microsoft Academic Search

This report describes the application of semiautomatic cyclic short-duration stimulation of the dorsal penile nerve for bladder hyper-reflexia in a SCI patient. A 17-year-old male with T-11 complete paraplegia had a series of urodynamic studies (UDS) with stimulation. The first UDS was performed to identify the effect of conditional intermittent stimulation on each reflex contraction. All the contractions were suppressed

Younghee Lee; Graham Creasey; Jaemann Song; Jinweon Kim; Kihak Song

221

[Without Title  

Microsoft Academic Search

.   Development of collateral circulation belongs among the typical signs of aortic coarctation. Cerebral or spinal artery aneurysm\\u000a formation with increased risk of subarachnoid hemorrhage represent the most common neurovascular complication of this disease.\\u000a We report a case of a 20-year-old sportsman who developed acute non-traumatic paraplegia as a result of extensive spinal epidural\\u000a hemorrhage from collateral vessels accompanying aortic

J. Žižka; P. Eliáš; A. Michl; J. Harrer; T. ?esák; A. Herman

2001-01-01

222

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

1999-01-01

223

Do you know this syndrome? Sjogren-Larsson syndrome.  

PubMed

We report a typical case of Sjogren-Larsson syndrome in a male patient, aged 20. The Sjogren-Larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by congenital ichthyosis, spastic paraplegia and mental retardation. It is caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. It has no cure, but most patients survive up to an adult age. Treatment should be multidisciplinary and dermatological therapy aims at relieving the persistent itching and ichthyosis. PMID:21308331

Benez, Marcela Duarte Villela; Fontenelle, Elisa; Tozzi, Brunela Bastos; Presotto, Carolina

2010-01-01

224

Body Composition in Paraplegic Men  

Microsoft Academic Search

To investigate alterations in the body composition of paraplegic men, 31 complete paraplegic men thoracic (T)4-T 12 neurological level of injury, 16 with paraplegia above (high), and 15 below (low) thoracic 7, were compared with 33 able-bodied men. Whole body dual X-ray absorptiometry was used to estimate regional (arms, legs) and total body bone mineral density (g\\/cm2), lean, and fat

Yannis Dionyssiotis; Konstantina Petropoulou; Christina-Anastasia Rapidi; Panagiotis Papagelopoulos; Nikolaos Papaioannou; Antonios Galanos; Paraskevi Papadaki; Georgios P. Lyritis

2008-01-01

225

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

226

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

2000-01-01

227

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

228

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

1997-01-01

229

[Spinal epidural cavernous angioma. Apropos of 2 cases. Review of the literature].  

PubMed

We report 2 cases of spinal epidural cavernous angiomas revealed by paraplegia, and present the main cases reported in the literature since 1895. The diagnosis of this uncommon affection seems to be difficult to establish only upon clinical and radiological features. In spite of recent advances in neuroradiological imaging, these kinds of angiomas still remain an operative and histopathological discovery. A laminectomy was performed revealing a vascular lesion which was totally extirpated. Functional recovery was achieved in both cases. PMID:9161537

Yettou, H; Vinikoff, L; Baylac, F; Marchal, J C

1996-01-01

230

Iatrogenic ureteral injury due to lumbar sympathetic block.  

PubMed

Lumbar sympathetic block (LSB) is used in the management of sympathetically maintained pain states. Complications of LSB may include infection, injury of spinal cord or somatic nerve, kidney trauma, hypotension, paraplegia and genitofemoral neuralgia. We present a case of a 53-year-old woman who had undergone LSB for the relief of reflex sympathetic dystrophy and subsequently a disrupted right proximal ureter. She was treated with ureteroureterostomy and an indwelling ureteral stent. PMID:19230175

Dirim, Ayhan; Kumsar, Sükrü

2008-01-01

231

Iatrogenic ureteral injury due to lumbar sympathetic block.  

PubMed

Lumbar sympathetic block (LSB) is used in the management of sympathetically maintained pain states. Complications of LSB include infection, injury of spinal cord or somatic nerve, kidney trauma, hypotension, paraplegia and genitofemoral neuralgia. This report presents the case of a 53-year-old woman who had undergone LSB for relief of reflex sympathetic dystrophy and subsequently disrupted right proximal ureter. She was treated with ureteroureterostomy and indwelling ureteral stent. PMID:18609289

Dirim, Ayhan; Kumsar, Sükrü

2008-01-01

232

Surgical Repair of Retrograde Type A Aortic Dissection after Thoracic Endovascular Aortic Repair  

PubMed Central

It is expected that the stent graft will become an alternative method for treating aortic diseases or reducing the extent of surgery; therefore, thoracic endovascular aortic repair has widened its indications. However, it can have rare but serious complications such as paraplegia and retrograde type A aortic dissection. Here, we report a surgical repair of retrograde type A aortic dissection that was performed after thoracic endovascular aortic repair.

Kim, Chang-Young; Kim, Yeon Soo; Ryoo, Ji Yoon

2014-01-01

233

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

2009-01-01

234

[Motor evoked potentials in thoracoabdominal aortic surgery].  

PubMed

Thoracoabdominal aortic disease (aneurysm or dissection) has increased in recent decades. Surgery is the curative treatment but is associated to high perioperative morbidity and mortality risks. Paraplegia is one of the most severe complications, whose incidence has decreased significantly with the implementation of spinal cord protection strategies. No single method or combination of methods has proven to be fully effective in preventing paraplegia. This review is intended to analyse the scientific evidence available on the role of intraoperative monitoring with motor evoked potentials in the neurological outcome of patients undergoing thoracoabdominal aortic surgery. An online search (PubMed) was conducted. Relevant references were selected and reviewed. Intraoperative monitoring with motor evoked potentials (MEP) allows early detection of ischemic events and a targeted intervention to prevent the development of spinal cord injury, significantly reducing the incidence of postoperative paraplegia. MEP monitoring may undergo several intraoperative interferences which may compromise their interpretation. Neuromuscular blockade is the main limiting factor of anesthetic origin. It is essential to strike a balance between monitoring conditions and surgical and anesthetic needs as well as to evaluate the risks and benefits of the technique for each patient. MEP monitoring improves neurological outcome when integrated in a multidisciplinary strategy which must include multiple protective mechanisms that should be tailored to each hospital reality. PMID:24490197

Magro, Cátia; Nora, David; Marques, Miguel; Alves, Angela Garcia

2012-01-01

235

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

2008-01-01

236

Management of Traumatic Aortic Rupture: A 30-Year Experience  

PubMed Central

Objective To present the authors’ 30-year experience with traumatic aortic rupture (TAR). Summary Background Data TAR is a highly lethal injury. Most institutions manage a small number of cases, and most surgeons receive only modest exposure during training. Methods Between 1971 and 2001, the authors operated on 219 patients with a diagnosis of TAR. Diagnosis of TAR since 1994 has been based exclusively on the use of contrast-enhanced spiral computed tomography, with angiography reserved for equivocal cases (periaortic mediastinal hematoma without aortic wall abnormalities). Patients were divided according to surgical technique. Eighty-two patients (group A) were operated on with a clamp-and-sew technique. Sixty-four patients (group B) underwent surgery with the use of a passive shunt, and 73 patients (group C) were treated using heparin-less partial cardiopulmonary bypass. Results Mortality was 18 patients for group A (21.9%), 23 patients for group B (35.9%), and 13 patients for group C (17.8%) (P = .03). Paraplegia occurred in 15 of 64 survivors in group A (23.4%), 7 of 41 survivors in group B (17%), and 0 of 60 survivors in group C (P = .0005). Aortic occlusion without lower body perfusion for longer than 30 minutes (P = .004) and surgical technique without lower body bypass support (P = .0005) were associated with paraplegia. Conclusions Surgery for TAR based on spiral computed tomography screening and diagnosis is reliable. The use of heparin-less distal cardiopulmonary bypass in the authors’ hands is safe and is associated with a reduced incidence of paraplegia.

Cardarelli, Marcelo G.; McLaughlin, Joseph S.; Downing, Stephen W.; Brown, James M.; Attar, Safuh; Griffith, Bartley P.

2002-01-01

237

Imaging of Vascular Remodeling Following Simulated Thoracoabdominal Aneurysm Repair  

PubMed Central

Objective A better understanding of the response of the spinal cord blood supply to segmental artery (SA) sacrifice should help minimize the risk of paraplegia following both open and endovascular repair of thoracoabdominal aortic aneurysms (TAAA). Methods 12 female juvenile Yorkshire pigs were randomized into three groups and perfused with a barium-latex solution. Pigs in group 1 (control) had infusion without previous intervention. Pigs in group 2 were infused 48 hours after ligation of all SAs (T4-L5), and those in group 3 at 120 hours after ligation. Post-mortem CT scanning of the entire pig enabled overall comparisons and measurement of vessel diameters in the spinal cord circulation. Results 14.5±0.8 SAs were ligated: all filled retrograde to the ligature. Paraplegia occurred in 38% of operated pigs. A significant increase in the mean diameter of the anterior spinal artery (ASA) was evident after SA sacrifice (p=<0.0001 for 48h and 120h). The internal thoracic and intercostal arteries also increased in diameter. Quantitative assessment showed an increase in vessel density 48h after ligation of SAs, reflected by an obvious increase in small collateral vessels seen on 3-D reconstructions of CT scans at 120h. Conclusions Remodeling of the spinal cord blood supply—including dilatation of the ASA and proliferation of small collateral vessels—is evident at 48 and 120 hours after extensive SA sacrifice. It is likely that exploitation of this process will prove valuable in the quest to eliminate paraplegia after TAAA repair.

Geisbuesch, Sarah; Schray, Deborah; Bischoff, Moritz S; Lin, Hung-Mo; Griepp1, Randall B; Di Luozzo1, Gabriele

2012-01-01

238

Circumscribed myositis ossificans of the masseter muscle: report of a case  

PubMed Central

Summary Myositis Ossificans (MO) is an unusual pathological entity still largely unknown, characterized by dystrophic calcification leading to heterotopic ossification of intramuscular connective tissue. The masticatory muscles are exceptionally involved. Four distinct types of myositis ossificans have been described: MO Progressiva, which is a genetic disorder involving several muscular groups; MO Circumscripta, limited to a single muscle and generally due to calcification of an intramuscular haematoma following severe trauma and progressive ossification; MO Pseudo-malignant limited to soft tissue and not associated to any trauma; MO associated to paraplegia. A case of circumscribed myositis ossificans of the masseter muscle in a 62 years-old woma is reportedn.

PIOMBINO, P.; ORABONA, G. DELL'AVERSANA; ABBATE, V.; FINI, G.; LIBERATORE, G.M.; MICI, E.; BELLI, E.

2013-01-01

239

Circumscribed myositis ossificans of the masseter muscle: report of a case.  

PubMed

Myositis Ossificans (MO) is an unusual pathological entity still largely unknown, characterized by dystrophic calcification leading to heterotopic ossification of intramuscular connective tissue. The masticatory muscles are exceptionally involved. Four distinct types of myositis ossificans have been described: MO Progressiva, which is a genetic disorder involving several muscular groups; MO Circumscripta, limited to a single muscle and generally due to calcification of an intramuscular haematoma following severe trauma and progressive ossification; MO Pseudo-malignant limited to soft tissue and not associated to any trauma; MO associated to paraplegia. A case of circumscribed myositis ossificans of the masseter muscle in a 62 years-old woman is reported. PMID:24629814

Piombino, P; Dell'Aversana Orabona, G; Abbate, V; Fini, G; Liberatore, G M; Mici, E; Belli, E

2013-01-01

240

From new genetics to everyday knowledge: Ideas about how genetic diseases are transmitted in two large Brazilian families  

NASA Astrophysics Data System (ADS)

This study focuses on everyday or lay understandings of inheritance. In the northeastern Brazil, 100 individuals were interviewed in order to describe how they explain the origin of genetic disorders affecting their relatives for several generations. There were involved 60 individuals from a large consanguineous family with many members affected with a neurodegenerative disorder, SPOAN syndrome (spastic paraplegia, optic atrophy and neuropathy), and 40 individuals of another family living with neurofibromatosis type 1 (NF1). The results indicate that families here studied have built narratives to explain the origin of genetic diseases, saying that an ancestor infected with syphilis gave rise to disorders and birthmarks transmitted to descendents.

Santos, Silvana; Bizzo, Nelio

2005-07-01

241

[Botulinum neurotoxin type A in neurogenic detrusor overactivity: consensus paper of the Working Group Neuro-Urology of the DMGP].  

PubMed

The use of botulinum neurotoxin (BoNT-A) for suppression of neurogenic detrusor overactivity was first reported in 2000. Since that time, this method has gained widespread use. A number of recommendations and consensus statements have already been published. The current practice-oriented consensus paper takes into account recent developments and the over 10-year experience of most members of the Working Group Neuro-Urology of the German-speaking Medical Society for Paraplegia (DMGP) with a focus on the use of BoNT-A in paraplegic patients and in patients with multiple sclerosis. PMID:24604016

Böthig, R; Kaufmann, A; Bremer, J; Pannek, J; Domurath, B

2014-04-01

242

Completely Intracorporeal Robotic-Assisted Laparoscopic Ileovesicostomy  

PubMed Central

We present a report of a completely intracorporeal robotic-assisted laparoscopic ileovesicostomy with long term follow-up. The patient was a 55-year-old man with paraplegia secondary to tropical spastic paresis resulting neurogenic bladder dysfunction. The procedure was performed using a da Vinci Surgical system (Intuitive Surgical, Sunnyvale, CA) and took 330 minutes with an estimated blood loss of 100?mL. The patient recovered without perioperative complications. He continues to have low pressure drainage without urethral incontinence over two years postoperatively.

Dolat, MaryEllen T.; Wade, Greg; Grob, B. Mayer; Hampton, Lance J.; Klausner, Adam P.

2014-01-01

243

Cervical cord compression due to extension of a papillary thyroid carcinoma.  

PubMed

A 76-year-old man with a long-standing neck mass presented with the acute onset of paraplegia. Computed tomographic scanning of the neck revealed direct involvement of the mass with several cervical vertebral bodies and extension into the spinal canal. Biopsy of the mass demonstrated well-differentiated papillary thyroid carcinoma. He received external radiation to the lesion but died shortly thereafter. This is the first report of cervical cord compression due to extension of a papillary thyroid carcinoma. PMID:3799676

Ginsberg, J; Pedersen, J D; von Westarp, C; McCarten, A B

1987-01-01

244

[Myelomalacia caused by embolism of the substantia gelatinosa in the vertebral column and spinal cord arteries].  

PubMed

A 56 year old woman developed a transverse lumbar paraplegia within two hours following a jump from an 80 centimeter high window. The patient died 13 days later from a pulmonary embolus. At autopsy an intervertebral disc tissue embolus was found in the arteries to the 12th thoracic vertebral body and the spinal cord. The embolus originated in a Schmorl nodule in the 12th thoracic vertebral body. The findings and the clinical course suggest that dislodged nucleus pulposus tissue was expressed into the vascular system over some time as a result of tears in small vessels. The implications for treatment of patients with similar spinal cord symptoms are considered. PMID:3716660

Barz, H; Majerowitsch, B

1986-01-01

245

Evaluation of spinal cord ischemia with a retrievable stent graft is useful for determining the type of repair for a case of patch aneurysm.  

PubMed

Patch aneurysms after thoracoabdominal aortic aneurysm repair are a serious late complication. We treated a patient with patch aneurysm (originating at the artery of Adamkiewicz) involving a portion of an implanted graft from a previous operation. First, thoracic endovascular aneurysm repair was planned. A retrievable stent graft was inserted, and motor-evoked potentials were monitored to evaluate spinal cord ischemia. Significant changes in the motor-evoked potentials were observed, and permanent stent graft placement was abandoned. Later, open surgery was performed. The patient showed no postoperative paraplegia and was discharged in good condition. PMID:24333526

Akasaka, Junetsu; Takase, Kei; Tabayashi, Koichi

2014-07-01

246

SPG11 Presenting with Tremor  

PubMed Central

Background Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurological diseases, which typically present with progressive lower extremity weakness and spasticity causing progressive walking difficulties. Complicating neurological or extraneurological features may be present. Case Report We describe a 19-year-old male who was referred because of an action tremor of the hands; he later developed walking difficulties. Callosal atrophy was present on his cerebral magnetic resonance imaging scan, prompting genetic testing for SPG11, which revealed homozygous mutations. Discussion The clinical features, differential diagnosis and management of SPG11, the most common form of autosomal recessive complicated HSP with a thin corpus callosum are discussed.

Schneider, Susanne A.; Mummery, Catherine J.; Mehrabian, Mohadeseh; Houlden, Henry; Bain, Peter G.

2012-01-01

247

[Thoracic spinal cord avulsion without radiologic abnormalities: case report].  

PubMed

Spinal cord injury without radiologic abnormalities is a rare condition that occurs more frequently in children and contributes to a high rate of morbidity among these patients. We report the case of a five-month-old infant, victim of automobile accident, who was brought to our service with a sensitive level in T2 and bilateral crural paraplegia. Radiographic exams and computed tomography of spine did not evidence of bone or ligaments injuries. Magnetic resonance image showed complete spinal cord transection and spine avulsion in the segment between T3 and T7. We discuss this pathology according to its epidemiology, pathophysiology, diagnosis, treatment and prognostic aspects. PMID:17057905

Falavigna, Asdrubal; Mattana, Marcelo; Teles, Alisson Roberto; Persh, Karina Nunes

2006-09-01

248

Acute presentations of syringomyelia. Report of three cases.  

PubMed

Three unusual cases are reported in which communicating syringomyelia presented acutely. The first patient presented with paraplegia, the second with acute respiratory distress secondary to bilateral vocal cord paralysis, and the third with symptoms of acute brain-stem ischemia. Each patient had a communicating spinal cord syrinx associated with a posterior fossa and foramen magnum region anomaly (a huge posterior fossa arachnoid cyst in one and Chiari malformations in two). The mechanisms of craniospinal pressure dissociation and hindbrain herniation are discussed, along with other reported emergency presentations of syringomyelia. PMID:2294173

Zager, E L; Ojemann, R G; Poletti, C E

1990-01-01

249

[Diagnostics and therapy of fractures and fracture-dislocations of the vertebral column (author's transl)].  

PubMed

Vertebral fractures with incomplete paraplegia should be reduced immediately. If the myelogram still shows compression of the medulla, an anterior decompression should be performed. All severe injuries to the cervical spine are stabilised with anterior bone block and plate osteosynthesis. Generally fractures of the lumbar spine are treated conservatively with reduction and plaster jacket. Operative treatment is necessary in dislocations with locked facets, secondary instability, and in cases with traumatic spondylolisthesis. Reduction and stabilisation can be performed either by interbody fusion or posterior fusion. PMID:7282152

Böhler, J

1981-01-01

250

The changing pattern of spinal arachnoiditis.  

PubMed Central

Spinal arachnoiditis is a rare condition. Eighty cases, diagnosed during a period when 7600 spinal contrast investigations were undertaken, have been reviewed. The majority had suffered a previous spinal condition, the most common being lumbar disc disease. There has been a change in the distribution of arahnoiditis with the lumbar region now most frequently involved. This accounts for the persistence of radicular symptoms and the relatively low incidence of paraplegia when compared with earlier series. Surgery does not appear to have any role in the treatment. Images

Shaw, M D; Russell, J A; Grossart, K W

1978-01-01

251

A very rare neurocutaneous disorder in 2 siblings: Sjögren-Larsson syndrome.  

PubMed

Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder involving congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. It is caused by the deficient activity of fatty aldehyde dehydrogenase. In this report, the authors describe 2 siblings with Sjögren-Larsson syndrome. Both the patients had generalized ichthyosis, and the older one had spastic paraplegia and mental retardation, and the fundus examination revealed foveal and parafoveal glistening dots. The authors report the large kinship with Sjögren-Larsson syndrome, which is a rare and most probably underdiagnosed syndrome. PMID:20142464

Caglayan, Ahmet Okay; Gumus, Hakan

2010-08-01

252

The challenge of spinal cord injury care in the developing world  

PubMed Central

Great strides have been made in reducing morbidity and mortality following spinal cord injury (SCI), and improving long-term health and community participation; however, this progress has not been uniform across the globe. This review highlights differences in global epidemiology of SCI and the ongoing challenges in meeting the needs of individuals with SCI in the developing world, including post-disaster. Significant disparities persist, with life expectancies of 2 years or less not uncommon for persons living with paraplegia in many developing countries. The international community has an important role in improving access to appropriate care following SCI worldwide.

Burns, Anthony S.; O'Connell, Colleen

2012-01-01

253

Symptomatic epidural compression in infants with neuroblastoma: a single-center experience with 5 cases.  

PubMed

Infants affected by neuroblastoma with symptomatic epidural compression require early diagnosis and appropriate treatment to avoid severe late complications. However, no established guidelines are available regarding the optimal treatment of these patients. We describe 5 such infants. The interval between the onset of symptoms and tumor diagnosis was 3 to 8 days in 4/5 cases. None developed paraplegia before or after treatment. Treatment for epidural compression included first-line laminoplasty followed by chemotherapy in 3 patients, and chemotherapy first in the remaining 2. To date, all are alive and none have developed severe complications after a follow-up of 9 to 39 months (median, 20). PMID:23612376

Capasso, Maria; Cinalli, Giuseppe; Nastro, Anna; Giuliano, Maria; Errico, Maria E; Caccioppoli, Umberto; Turco, Rossella; Ruotolo, Serena; Vetrella, Simona; De Bernardi, Bruno; Rossi, Eugenio; Quaglietta, Lucia

2013-05-01

254

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1 -related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations  

Microsoft Academic Search

Background  The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive\\u000a allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP). PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20%\\u000a of patients.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  Forty-eight male patients from 38 unrelated families

Serena Grossi; Stefano Regis; Roberta Biancheri; Matthew Mort; Susanna Lualdi; Enrico Bertini; Graziella Uziel; Odile Boespflug-Tanguy; Alessandro Simonati; Fabio Corsolini; Ercan Demir; Valentina Marchiani; Antonio Percesepe; Franco Stanzial; Andrea Rossi; Catherine Vaurs-Barrière; David N Cooper; Mirella Filocamo

2011-01-01

255

Multiple sclerosis with open-ring enhancement in the cerebrum and spinal cord.  

PubMed

A 67-year-old woman presented with open-ring enhancement on MR images in the thoracic spinal cord. Steroid therapy improved the patient's paraplegia, but six months later she developed left hemiparesis and a new open-ring enhancement appeared in the right cerebrum. Despite high-dose methylprednisolone therapy and plasmapheresis, another lesion appeared at the middle portion of the left centrum semiovale. Stereotaxic brain biopsy demonstrated active demyelination characteristics of multiple sclerosis (MS). This case indicates that openring enhancement can help differentiate MS from nondemyelinating disease, and that MS showing ring enhancement may contribute to disease severity and need more intensive immunomodulatory therapies. PMID:12705794

Dohi, Naoko; Ishikawa, Shozo; Kamijyo, Yukihiro; Nakamura, Tomotsugu; O-Hara, Shinji; Maruyama, Keiko

2003-03-01

256

Chondrosarcoma of the spine and thyroid carcinoma following radiation therapy for Hodgkin's lymphoma.  

PubMed

Second malignant neoplasms are an infrequent but well-documented sequelae of radiation therapy for childhood cancer. We report a 34-year-old man with chondrosarcoma of the spine and thyroid carcinoma diagnosed 24 years after radiation therapy for Hodgkin's lymphoma. Both tumors arose in the previously irradiated field and were not detected until the patient presented with paraplegia. The propensity of these neoplasms to arise in the previously irradiated field warrants physicians to be alert to any manifestations arising in this anatomic area. PMID:9191792

Leis, A A; Fratkin, J

1997-06-01

257

A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.  

PubMed

Hereditary spastic paraplegia (HSP) includes a group of diseases characterized by progressive spastic weakness of the lower limbs (pure forms) with possible additional signs (complicated forms). The SPG10 form is due to alteration in the kinesin1A gene (KIF5A) that encodes the neuronal kinesin heavy chain, a protein required for the anterograde axonal transport. We performed clinical, neurophysiological and molecular studies in two siblings affected by AD-HSP complicated by deafness. The screening of the KIF5A gene revealed the novel mutation p.Leu259Gln in two affected siblings and in their father with a pure form of HSP. PMID:24939576

Muglia, M; Citrigno, L; D'Errico, E; Magariello, A; Distaso, E; Gasparro, A A; Scarafino, A; Patitucci, A; Conforti, F L; Mazzei, R; Cortese, R; Tortelli, R; L Simone, I

2014-08-15

258

Virtual reality system in conjunction with neurorobotics and neuroprosthetics for rehabilitation of motor disorders.  

PubMed

Cerebrovascular accidents (CVA) and spinal cord injuries (SCI) are the most common causes of paralysis and paresis with reported prevalence of 12,000 cases per million and 800 cases per million, respectively. Disabilities that follow CVA (hemiplegia) or SCI (paraplegia, tetraplegia) severely impair motor functions (e.g., standing, walking, reaching and grasping) and prevent the affected individuals from healthy-like, full and autonomous participation in daily activities. Our research focuses on the development of a new virtual reality (VR) system combined with wearable neurorobotics (NR), motor-neuroprosthetics (MNP) and brain neuro-machine interface (BNMI) to overcome the major limitations of current rehabilitation solutions. PMID:21335782

De Mauro, Alessandro; Carrasco, Eduardo; Oyarzun, David; Ardanza, Aitor; Frizera Neto, Anselmo; Torricelli, Diego; Pons, José Luis; Gil, Angel; Florez, Julian

2011-01-01

259

[Slowly progressive dysarthria in primary lateral sclerosis].  

PubMed

Slowly progressive dysarthria over many years may be the only sign of primary lateral sclerosis (PLS). Clinically it presents as pseudobulbar palsy which can be differentiated from amyotrophic lateral sclerosis (ALS) by the longer disease duration (> or =4 years), central pathological magnetic-evoked potentials to the tongue and lack of denervation in EMG. In contrast, hereditary spastic paraplegia (HSP) is characterized by a primary spasticity of the lower limbs, mostly later onset, the fact that other family members are affected and in isolated cases by positive genetic testing for mutations. PMID:20532474

Urban, P P; Wellach, I; Pohlmann, C

2010-08-01

260

Primary extradural hydatid cyst extended to paraspinal muscles  

PubMed Central

Primary spinal epidural hydatid cyst without bony involvement is extremely rare. Authors report the case of a 44-year-old female brought to their attention for a rapidly progressive paraplegia. Magnetic resonance imaging (MRI) revealed extradural multiple cysts with “bunch of grapes” appearance extended to the paraspinal muscles through neural foramina without bony involvement on computed tomography (CT) scan. Histopathologic examination after a surgical approach confirmed the diagnosis of hydatid cyst. The early postoperative period showed a progressive improvement of her neurological deficit. The long-term follow-up under discontinued antihelminthic chemotherapy was uneventful.

Boulahroud, Omar; Dao, Ibrahim; El Asri, Cherif Abad; Boucetta, Mohammed

2012-01-01

261

Meningeal melanocytoma: case report and literature review.  

PubMed

We report a case of a 54-year-old female with progressive chronic pain in lower extremity, paraplegia and loss of function of the anal sphincter. MRI revealed an expansive solid intradural and intramedullar lesion located at the T6 to T9 levels. Histology of the lesion showed melanocytes with the results of immunohistochemistry consistent with a melanocytoma. Melanocytic tumors are rare tumors which present a diagnostic and management challenge for the modern neurosurgeon and neuro-oncologist since MRI and CT features are non-specific and there is scant data to standardise best strategic therapy. PMID:24791361

Kraft Roverea, Rodrigo; Dagnonia, Carini; Gomes de Oliveiraa, Godofredo; Sapellia, Jaqueline

2014-01-01

262

Current status of the DREZ operation: 1984.  

PubMed

The DREZ operation was introduced in 1976 as a method to control deafferentation pain associated with brachial plexus injury. Since then, 250 DREZ operations have been done at Duke Medical Center. At present, the best results of pain relief occur in brachial and lumbosacral root avulsions, paraplegia, and postherpetic pain. Post-DREZ complications have been reduced by the introduction of new lesion techniques, including the recent use of the laser. The neural basis of deafferentation pain is still not solved, nor is the therapeutic effect of the DREZ lesion known. PMID:6514168

Nashold, B S

1984-12-01

263

Mitochondrial quality control: a matter of life and death for neurons  

PubMed Central

Neuronal survival critically depends on the integrity and functionality of mitochondria. A hierarchical system of cellular surveillance mechanisms protects mitochondria against stress, monitors mitochondrial damage and ensures the selective removal of dysfunctional mitochondrial proteins or organelles. Mitochondrial proteases emerge as central regulators that coordinate different quality control (QC) pathways within an interconnected network of mechanisms. A failure of this system causes neuronal loss in a steadily increasing number of neurodegenerative disorders, which include Parkinson's disease, spinocerebellar ataxia, spastic paraplegia and peripheral neuropathies. Here, we will discuss the role of the mitochondrial QC network for neuronal survival and neurodegeneration.

Rugarli, Elena I; Langer, Thomas

2012-01-01

264

Conus medullaris metastasis in breast cancer: report of a case and a review of the literature.  

PubMed

Intramedullary spinal cord metastasis is quite rare. This report presents the case of a female patient with metastasis of the conus medullaris from breast cancer, presenting with paraplegia and sphincter dysfunction. Bladder dysfunction improved after removal of the conus mass. This report is the seventh case of conus medullaris metastasis from breast cancer and the first review of clinical outcome, survival time and other data of all these 7 cases. This study also reviewed cases of intramedullary spinal cord metastasis arising from breast cancer in regions other than the conus medullaris in the literature. Longer survival time resulted from surgery in contrast to those without surgery in the latter group. PMID:22872491

Hsu, Kao-Chih; Li, Tsung-Ying; Chu, Heng-Yi; Chen, Liang-Cheng; Chang, Shin-Tsu; Wu, Yung-Tsan

2013-08-01

265

Pneumomediastinum, Subcutaneous Emphysema, and Tracheal Tear in the Early Postoperative Period of Spinal Surgery in a Paraplegic Achondroplastic Dwarf  

PubMed Central

Achondroplasia was first described in 1878 and is the most common form of human skeletal dysplasia. Spinal manifestations include thoracolumbar kyphosis, foramen magnum, and spinal stenosis. Progressive kyphosis can result in spinal cord compression and paraplegia due to the reduced size of spinal canal. The deficits are typically progressive, presenting as an insidious onset of paresthesia, followed by the inability to walk and then by urinary incontinence. Paraplegia can be the result of direct pressure on the cord by bone or the injury to the anterior spinal vessels by a protruding bone. Surgical treatment consists of posterior instrumentation, fusion with total wide laminectomy at stenosis levels, and anterior interbody support. Pedicle screws are preferred for spinal instrumentation because wires and hooks may induce spinal cord injury due to the narrow spinal canal. Pedicle lengths are significantly shorter, and 20–25?mm long screws are appropriate for lower thoracic and lumbar pedicles in adult achondroplastic There is no information about the appropriate length of screws for the upper thoracic pedicles. Tracheal injury due to inappropriate pedicle screw length is a rare complication. We report an extremely rare case of tracheal tear due to posterior instrumentation and its management in the early postoperative period.

Kahraman, Sinan; Enercan, Meric; Demirhan, Ozkan; Sengul, Turker; Hamzaoglu, Azmi

2013-01-01

266

Eosinophilia and bone lesion as clinical manifestations of aggressive systemic mastocytosis.  

PubMed

We report a patient with aggressive systemic mastocytosis (SM), who exhibited eosinophilia and unusual destructive bone lesions. A 43-year-old female was referred to our hospital because of a vertebral compression fracture, multiple lytic bone lesions, and eosinophilia in February 2011. A diagnosis of aggressive SM was made on the basis of abnormal mast cells in the bone marrow, high serum tryptase levels, and multiple lytic bone lesions including vertebral compression fractures. Polymerase chain reaction and subsequent sequencing of its products to identify mutations of c-kit yielded negative results and imatinib mesylate failed to improve the SM of the patient. She was then treated with interferon-?, with considerable improvement of the disease, although severe myelosuppression prevented the continued administration of a sufficient dose of this agent. In August 2011, the patient suddenly developed paraplegia of the lower extremities. Magnetic resonance imaging demonstrated epidural mass lesions at the levels from Th9 to Th11, compressing the spinal cord. Emergent laminectomy and subsequent irradiation of the tumors were performed without improvement of the paraplegia. Histopathologic examination of the epidural tumors, from samples obtained intraoperatively, confirmed the diagnosis of SM. She was further treated with dasatinib and then cladribine without obvious improvement, although the latter reduced the eosinophilia to some extent ; however, she died of sepsis in September 2011. PMID:24369222

Sakane-Ishikawa, Emiko; Kodaka, Taiichi; Tsunemine, Hiroko; Itoh, Kiminari; Akasaka, Hiroshi; Kusama, Toshiyuki; Imaizumi, Kisako; Taketomi, Masanori; Sada, Akiko; Katayama, Yoshio; Itoh, Tomoo; Takahashi, Takayuki

2013-01-01

267

Spinal subarachnoid hemorrhage accompanied with intraventricular hemorrhage.  

PubMed

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. PMID:23961296

Fatehi, Farzad; Basiri, Keivan; Ghorbani, Askar

2013-03-01

268

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

2013-01-01

269

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

2013-01-01

270

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

PubMed Central

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 years ago at the age of fifteen years. He has been managing his bladder by wearing a penile sheath. He noticed redness and swelling on the right side of the scrotum, which rapidly progressed to become a black patch. A wound swab yielded growth of methicillin-resistant Staphylococcus aureus (MRSA). Necrotic tissue was excised. Culture of excised tissue grew MRSA. A follow-up wound swab yielded growth of MRSA and mixed anaerobes. The wound was treated with regular application of povidone-iodine spray. He made good progress, with the wound healing gradually. Conclusion It is likely that the presence of a condom catheter, increased skin moisture in the scrotum due to urine leakage, compromised personal hygiene, a neurogenic bowel and subtle dysfunction of the immune system contributed to colonisation, and then rapidly progressive infection in this patient. We believe that spinal cord injury patients and their carers should be made aware of possible increased susceptibility of SCI patients to opportunistic infections of the skin. Increased awareness will facilitate prompt recourse to medical advice, when early signs of infection are present.

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

2002-01-01

271

Decentralized cardiovascular autonomic control and cognitive deficits in persons with spinal cord injury  

PubMed Central

Spinal cord injury (SCI) results in motor and sensory impairments that can be identified with the American Spinal Injury Association (ASIA) Impairment Scale (AIS). Although, SCI may disrupt autonomic neural transmission, less is understood regarding the clinical impact of decentralized autonomic control. Cardiovascular regulation may be altered following SCI and the degree of impairment may or may not relate to the level of AIS injury classification. In general, persons with lesions above T1 present with bradycardia, hypotension, and orthostatic hypotension; functional changes which may interfere with rehabilitation efforts. Although many individuals with SCI above T1 remain overtly asymptomatic to hypotension, we have documented deficits in memory and attention processing speed in hypotensive individuals with SCI compared to a normotensive SCI cohort. Reduced resting cerebral blood flow (CBF) and diminished CBF responses to cognitive testing relate to test performance in hypotensive non-SCI, and preliminary evidence suggests a similar association in individuals with SCI. Persons with paraplegia below T7 generally present with a normal cardiovascular profile; however, our group and others have documented persistently elevated heart rate and increased arterial stiffness. In the non-SCI literature there is evidence supporting a link between increased arterial stiffness and cognitive deficits. Preliminary evidence suggests increased incidence of cognitive impairment in individuals with paraplegia, which we believe may relate to adverse cardiovascular changes. This report reviews relevant literature and discusses findings related to the possible association between decentralized cardiovascular autonomic control and cognitive dysfunction in persons with SCI.

Wecht, Jill M.; Bauman, William A.

2013-01-01

272

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: blackstc@ninds.nih.gov

2005-09-09

273

Spinal cord injury after conducting transcatheter arterial chemoembolization for costal metastasis of hepatocellular carcinoma  

PubMed Central

Transcatheter arterial chemoembolization (TACE) has been used widely to treat patients with unresectable hepatocellular carcinoma. However, this method can induce various adverse events caused by necrosis of the tumor itself or damage to nontumor tissues. In particular, neurologic side effects such as cerebral infarction and paraplegia, although rare, may cause severe sequelae and permanent disability. Detailed information regarding the treatment process and prognosis associated with this procedure is not yet available. We experienced a case of paraplegia that occurred after conducting TACE through the intercostal artery to treat hepatocellular carcinoma that had metastasized to the rib. In this case, TACE was attempted to relieve severe bone pain, which had persisted even after palliative radiotherapy. A sudden impairment of sensory and motor functions after TACE developed in the trunk below the level of the sternum and in both lower extremities. The patient subsequently received steroid pulse therapy along with supportive care and continuous rehabilitation. At the time of discharge the patient had recovered sufficiently to enable him to walk by himself, although some paresthesia and spasticity remained.

Park, Sang Jung; Kim, Jin Dong; Um, Soon Ho; Yim, Sun Young; Seo, Min Ho; Lee, Dae In; Kang, Jun Hyuk; Keum, Bora; Kim, Yong Sik

2012-01-01

274

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.  

PubMed

We report the identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously identified locus on chromosome 19p12-q12, which has been defined as LI3 in the OMIM database (MIM 604777). The phenotype usually presents as lamellar ichthyosis and hyperlinearity of palms and soles. Seven homozygous mutations including five missense mutations and two deletions were identified in a new gene, FLJ39501, on chromosome 19p12 in 21 patients from 12 consanguineous families from Algeria, France, Italy and Lebanon. FLJ39501 encodes a protein which was found to be a cytochrome P450, family 4, subfamily F, polypeptide 2 homolog of the leukotriene B4-omega-hydroxylase (CYP4F2) and could catalyze the 20-hydroxylation of trioxilin A3 from the 12(R)-lipoxygenase pathway. Further oxidation of this substrate by the fatty alcohol:nicotinamide-adenine dinucleotide oxidoreductase (FAO) enzyme complex, in which one component, ALDH3A2, is known to be mutated in Sjögren-Larsson syndrome (characterized by ichthyosis and spastic paraplegia), would lead to 20-carboxy-(R)-trioxilin A3. This compound could be involved in skin hydration and would be the essential missing product in most forms of ARCI. Its chiral homolog, 20-carboxy-(S)-trioxilin A3, could be implicated in spastic paraplegia and in the maintenance of neuronal integrity. PMID:16436457

Lefèvre, Caroline; Bouadjar, Bakar; Ferrand, Véronique; Tadini, Gianluca; Mégarbané, André; Lathrop, Mark; Prud'homme, Jean-François; Fischer, Judith

2006-03-01

275

Central nervous system vasculitis in cytomegalovirus infection.  

PubMed

A 51-year-old man received cyclophosphamide, vincristine, procarbazine and prednisone in the treatment of a small-cell undifferentiated lymphoma. Two years later, he developed a rapidly progressive neurological syndrome characterized by a decline in alertness, deafness, blindness and paraplegia. Examination of his eyes revealed severe hemorrhagic chorioretinitis. Leg weakness was thought to be due to transverse myelopathy at a thoracic level. He had a grand mal convulsion and died from terminal bronchopneumonia. Autopsy examination of the eyes revealed sweeping destruction of the retina due to inclusion body chorioretinitis. The brain and spinal cord showed multiple small infarcts accounting for the deafness and paraplegia. The lesions were due to occlusive arteritis in gray and white matter. Veins were also involved. Tissue surrounding the foci of necrosis contained cells with intranuclear an intracytoplasmic inclusion bodies. Some of the Cowdry type A inclusion bodies were large, measuring 30 micrometer in diameter and were located in enlarged cells. Electron microscopy of retina and brain tissue disclosed virus particles compatible with cytomegalovirus. The subject of cerebral and ocular angiitis due to herpes virus infections is reviewed. PMID:6268757

Koeppen, A H; Lansing, L S; Peng, S K; Smith, R S

1981-09-01

276

Pneumomediastinum, subcutaneous emphysema, and tracheal tear in the early postoperative period of spinal surgery in a paraplegic achondroplastic dwarf.  

PubMed

Achondroplasia was first described in 1878 and is the most common form of human skeletal dysplasia. Spinal manifestations include thoracolumbar kyphosis, foramen magnum, and spinal stenosis. Progressive kyphosis can result in spinal cord compression and paraplegia due to the reduced size of spinal canal. The deficits are typically progressive, presenting as an insidious onset of paresthesia, followed by the inability to walk and then by urinary incontinence. Paraplegia can be the result of direct pressure on the cord by bone or the injury to the anterior spinal vessels by a protruding bone. Surgical treatment consists of posterior instrumentation, fusion with total wide laminectomy at stenosis levels, and anterior interbody support. Pedicle screws are preferred for spinal instrumentation because wires and hooks may induce spinal cord injury due to the narrow spinal canal. Pedicle lengths are significantly shorter, and 20-25?mm long screws are appropriate for lower thoracic and lumbar pedicles in adult achondroplastic There is no information about the appropriate length of screws for the upper thoracic pedicles. Tracheal injury due to inappropriate pedicle screw length is a rare complication. We report an extremely rare case of tracheal tear due to posterior instrumentation and its management in the early postoperative period. PMID:24455372

Kahraman, Sinan; Enercan, Meriç; Demirhan, Ozkan; Sengül, Türker; Dalar, Levent; Hamzao?lu, Azmi

2013-01-01

277

A Spinal Arteriovenous Fistula in a 3-Year Old Boy  

PubMed Central

We present a case of a 3-year-old boy with neurodegeneration. Family history reveals Rendu-Osler-Weber disease. Magnetic resonance imaging (MRI) of the spinal cord and spinal angiography showed a spinal arteriovenous fistula with venous aneurysm, causing compression of the lumbar spinal cord. Embolisation of the fistula was executed, resulting in clinical improvement. A week after discharge he was readmitted with neurologic regression. A second MRI scan revealed an intraspinal epidural haematoma and increase in size of the aneurysm with several new arterial feeders leading to it. Coiling of the aneurysm and fistulas was performed. Postoperative, the spinal oedema increased despite corticoids, causing more extensive paraplegia of the lower limbs and a deterioration of his mental state. A laminectomy was performed and the aneurysm was surgically removed. Subsequently, the boy recovered gradually. A new MRI scan after two months showed less oedema and a split, partly affected spinal chord. This case shows the importance of excluding possible arteriovenous malformations in a child presenting with progressive neurodegeneration. In particular when there is a family history for Rendu-Osler-Weber disease, scans should be performed instantly to rule out this possibility. The case also highlights the possibility of good recovery of paraplegia in paediatric Rendu-Osler-Weber patients.

Crijnen, Thomas E. M.; Voormolen, Maurits H. J.; Robert, Dominique; Jorens, Philippe G.; Ramet, Jose

2014-01-01

278

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.

2013-01-01

279

Spartin Regulates Synaptic Growth and Neuronal Survival by Inhibiting BMP-Mediated Microtubule Stabilization  

PubMed Central

SUMMARY Troyer syndrome is a hereditary spastic paraplegia caused by human spartin (SPG20) gene mutations. We have generated a Drosophila disease model showing that Spartin functions presynaptically with endocytic adaptor Eps15 to regulate synaptic growth and function. Spartin inhibits bone morphogenetic protein (BMP) signaling by promoting endocytic degradation of BMP receptor wishful thinking (Wit). Drosophila fragile X mental retardation protein (dFMRP) and Futsch/MAP1B are downstream effectors of Spartin and BMP signaling in regulating microtubule stability and synaptic growth. Loss of Spartin or elevation of BMP signaling induces age-dependent progressive defects resembling hereditary spastic paraplegias, including motor dysfunction and brain neurodegeneration. Null spartin phenotypes are prevented by administration of the microtubule-destabilizing drug vinblastine. Together, these results demonstrate that Spartin regulates both synaptic development and neuronal survival by controlling microtubule stability via the BMP-dFMRP-Futsch pathway, suggesting that impaired regulation of microtubule stability is a core pathogenic component in Troyer syndrome.

Nahm, Minyeop; Lee, Min-Jung; Parkinson, William; Lee, Mihye; Kim, Haeran; Kim, Yoon-Jung; Kim, Sungdae; Cho, Yi Sul; Min, Byung-Moo; Bae, Yong Chul; Broadie, Kendal; Lee, Seungbok

2013-01-01

280

Adult Hip Flexion Contracture due to Neurological Disease: A New Treatment Protocol--Surgical Treatment of Neurological Hip Flexion Contracture  

PubMed Central

Congenital, traumatic, or extrinsic causes can lead people to paraplegia; some of these are potentially; reversible and others are not. Paraplegia can couse hip flexion contracture and, consequently, pressure sores, scoliosis, and hyperlordosis; lumbar and groin pain are strictly correlated. Scientific literature contains many studies about children hip flexion related to neurological diseases, mainly caused by cerebral palsy; only few papers focus on this complication in adults. In this study we report our experience on surgical treatment of adult hip flexion contracture due to neurological diseases; we have tried to outline an algorithm to choose the best treatment avoiding useless or too aggressive therapies. We present 5 cases of adult hips flexion due to neurological conditions treated following our algorithm. At 1-year-follow-up all patients had a good clinical outcome in terms of hip range of motion, pain and recovery of walking if possible. In conclusion we think that this algorithm could be a good guideline to treat these complex cases even if we need to treat more patients to confirm this theory. We believe also that postoperation physiotherapy it is useful in hip motility preservation, improvement of muscular function, and walking ability recovery when possible.

Nicodemo, Alberto; Arrigoni, Chiara; Bersano, Andrea; Masse, Alessandro

2014-01-01

281

Progressive correction of severe spinal deformities with halo-gravity traction.  

PubMed

Treatment of rigid and severe spinal deformities is challenging and risky. Preoperative halo-gravity traction can be used to progressively reduce the deformity before spinal fusion. The aim of this study was to evaluate the effectiveness of halo-gravity traction for the correction of severe spinal deformities. Fifteen patients were reviewed retrospectively. Their mean age at the beginning of traction was 13.5 years. The mean duration of traction was 64 days. The main curve in the coronal plane improved from +/- 95 degrees to +/- 67 degrees, a gain of +/- 28 degrees (range 0 degrees-50 degrees) or +/- 30%. The curve in the sagittal plane improved from +/- 96 degrees to +/- 78 degrees, a gain of +/- 18 degrees (range 0 degrees-45 degrees) or +/- 19%. Other authors report gains up to 46% and 43%, respectively in the coronal and in the sagittal plane, but this might be due to different conditions, techniques, and evaluations. One patient with a pre-existing neurological deficit developed paraplegia. According to the literature congenital curves with associated kyphosis are exposed to paraplegia. Halo-gravity traction is effective and is usually tolerated better than other techniques of traction using the halo device. PMID:21954764

Bouchoucha, Sami; Khelifi, Anis; Saied, Walid; Ammar, Chokri; Nessib, Mohamed Nebil; Ben Ghachem, Maher

2011-08-01

282

[Basic principles and effects of hippotherapy within the comprehensive treatment of paraplegic patients].  

PubMed

A total of 67 patients, both paraplegic and quadriplegic, had participated in a hippotherapy programme over a study period of almost 18 months, with positive effects found relative to spasticity, certain pain syndromes, as well as contraction syndromes associated with impaired joint mobility. Frequently the only effective measure at all, and moreover of astonishingly lasting effect, the spasticity-reducing treatment turned out especially beneficial. Along with these statistically supported findings, a number of associated effects were noted in the physiotherapy and, especially, the nursing sectors, with easier catheterization, more rhythmical bowel function, more balanced mood with improved sleep, and a generally increased openness and motivation. Hippotherapy has proven a valid method within a synergistic approach for comprehensive care in paraplegia. PMID:8165362

Exner, G; Engelmann, A; Lange, K; Wenck, B

1994-02-01

283

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

1995-06-01

284

Continuous lumbar hemilaminectomy for intervertebral disc disease in an Amur tiger (Panthera tigris altaica).  

PubMed

A 13-yr-old Amur tiger (Panthera tigris altaica) was presented for an acute onset of paraplegia. Spinal imaging that included plain radiographs, myelography, and computed tomography performed under general anesthesia revealed lateralized spinal cord compression at the intervertebral disc space L4-5 caused by intervertebral disc extrusion. This extrusion was accompanied by an extensive epidural hemorrhage from L3 to L6. Therefore, a continuous hemilaminectomy from L3 to L6 was performed, resulting in complete decompression of the spinal cord. The tiger was ambulatory again 10 days after the surgery. This case suggests that the potential benefit of complete spinal cord decompression may outweigh the risk of causing clinically significant spinal instability after extensive decompression. PMID:18817014

Flegel, Thomas; Böttcher, Peter; Alef, Michaele; Kiefer, Ingmar; Ludewig, Eberhard; Thielebein, Jens; Grevel, Vera

2008-09-01

285

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

PubMed Central

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.

2011-01-01

286

The First Report of Fetal Alcohol Effect in a 12 Year-Old Child in Korea  

PubMed Central

We present the first report of fetal alcohol effect in a 12 year-old child in Korea. The mother had consumed 162 g of alcohol per week continuously during pregnancy. His first febrile seizure occurred before he was 1 year old, and became more frequent 2 years later. He started showing signs of right paraplegia when he was 3.5 years old and brain MRI revealed periventricular leucomalacia near the left ventricle. He was microcephalic and his growth was retarded. He was irritable, impatient, impulsive, and inattentive, and showed disinterest in school activities and aggressive and dangerous behavior. After the diagnosis of attention deficit/hyperactivity disorder was made, psychopharmacological treatment and family support was initiated. After 10 months, he still had intermittent ideas of reference, although the aggressive behavior, inattentiveness, and impulsivity had improved. Using this case study, we stress the importance of maternal alcohol history in patients with these characteristics.

Ahn, Dong Hyun; Lee, Young Jin; An, Ho Young; Ahn, Joon Ho

2009-01-01

287

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

1995-11-20

288

Cryptococcal meningitis in a goat - a case report  

PubMed Central

Background Cryptococcus spp. are saprophytic and opportunistic fungal pathogens that are known to cause severe disease in immunocompromised animals. In goats there are reports of clinical cryptococcal pneumonia and mastitis but not of meningitis. Case presentation The following report describes a case of a five year old buck showing severe neurological signs, including paraplegia and strong pain reaction to touch of the hindquarters region. Treatment with antibiotics was unsuccessful and the animal was euthanized for humanitarian reasons. Postmortem examination revealed lumbar meningitis, lung nodules and caseous lymphadenitis lesions. Encapsulated Cryptococcus neoformans were identified from the lungs and meninges, showing that cryptococcal meningitis should be included in the differential diagnosis of goats showing paresis and hyperesthesia. The possibility of concurrent immunosuppression due to Corynebacterium pseudotuberculosis infection is raised. Conclusions Cryptoccocal meningitis should be included in the differential diagnosis list of goat diseases with ataxia and hyperesthesia.

2014-01-01

289

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.  

PubMed

Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis, we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and synapse and axon development. Network analysis revealed a host of further candidate genes, of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease. PMID:24482476

Novarino, Gaia; Fenstermaker, Ali G; Zaki, Maha S; Hofree, Matan; Silhavy, Jennifer L; Heiberg, Andrew D; Abdellateef, Mostafa; Rosti, Basak; Scott, Eric; Mansour, Lobna; Masri, Amira; Kayserili, Hulya; Al-Aama, Jumana Y; Abdel-Salam, Ghada M H; Karminejad, Ariana; Kara, Majdi; Kara, Bulent; Bozorgmehri, Bita; Ben-Omran, Tawfeg; Mojahedi, Faezeh; Mahmoud, Iman Gamal El Din; Bouslam, Naima; Bouhouche, Ahmed; Benomar, Ali; Hanein, Sylvain; Raymond, Laure; Forlani, Sylvie; Mascaro, Massimo; Selim, Laila; Shehata, Nabil; Al-Allawi, Nasir; Bindu, P S; Azam, Matloob; Gunel, Murat; Caglayan, Ahmet; Bilguvar, Kaya; Tolun, Aslihan; Issa, Mahmoud Y; Schroth, Jana; Spencer, Emily G; Rosti, Rasim O; Akizu, Naiara; Vaux, Keith K; Johansen, Anide; Koh, Alice A; Megahed, Hisham; Durr, Alexandra; Brice, Alexis; Stevanin, Giovanni; Gabriel, Stacy B; Ideker, Trey; Gleeson, Joseph G

2014-01-31

290

A method for paraplegic upper-body posture estimation during standing: a pilot study for rehabilitation purposes.  

PubMed

This paper presents a contribution for restoring standing in paraplegia while using functional electrical stimulation (FES). Movement generation induced by FES remains mostly open looped and stimulus intensities are tuned empirically. To design an efficient closed-loop control, a preliminary study has been carried out to investigate the relationship between body posture and voluntary upper body movements. A methodology is proposed to estimate body posture in the sagittal plane using force measurements exerted on supporting handles during standing. This is done by setting up constraints related to the geometric equations of a two-dimensional closed chain model and the hand-handle interactions. All measured quantities are subject to an uncertainty assumed unknown but bounded. The set membership estimation problem is solved via interval analysis. Guaranteed uncertainty bounds are computed for the estimated postures. In order to test the feasibility of our methodology, experiments were carried out with complete spinal cord injured patients. PMID:19277748

Pages, Gaël; Ramdani, Nacim; Fraisse, Philippe; Guiraud, David

2009-06-01

291

An aggressive vertebral hemangioma in pregnancy: a case report  

PubMed Central

Introduction Pregnancy-related compressive myelopathy secondary to vertebral hemangioma is a rare occurrence and its treatment antepartum is rare. Case presentation A 19-year-old North African woman in her 38th week of pregnancy presented with paraplegia that progressed within 2 days after a rapidly progressive weakness of her lower limbs. Magnetic resonance imaging studies showed compression of her spinal cord in front of the fourth thoracic vertebra for suspected tuberculous spondylitis. A Caesarean section was done followed by corpectomy with a bone graft because we intraoperatively discovered a vertebral hemangioma. Pathology showed an aggressive hemangioma. Conclusion At any term of pregnancy, extensive neurological involvement which is rapidly progressive due to compression should be considered for immediate decompression.

2014-01-01

292

Nontuberculous infection of the spine.  

PubMed Central

Fourteen cases of nontuberculous infection of the spine were presented, and compared with similar published series (172 cases). The ESR was very high in all cases except one. It returned to normal after recovery. The long delay (5-28 weeks) in diagnosis emphasizes the need for increased awareness of the condition, and the importance of repeated investigations, if these are initially normal. If diagnosed and treated in time the disease runs a relatively benign course. Open exploration is not necessary in all cases, and whether this speeds recovery is open to question. It is indicated to exclude tuberculosis doubtful cases, to obtain a positive culture if other evidence is lacking, and is an absolute indication in paraplegia. Images Fig 6 Fig 7 Fig 8 Fig 9

Kersley, J B

1977-01-01

293

Neuroschistosomiasis.  

PubMed

Neuroschistosomiasis, the infection of the CNS by Schistosoma spp., is a neglected and under-recognized complication of schistosomiasis. Cerebral and spinal neuroschistosomiasis can provoke severe disability. Neurological symptoms occur as a consequence of the immune reaction around the eggs deposited in the CNS. Cerebral neuroschistosomiasis may present with altered sensorium, headache, seizures and focal neurological deficit. Pseudotumoral and cerebellar neuroschistosomiasis may provoke intracranial hypertension and hydrocephalus. Brain-enhancing lesions with associated mass effect can be observed on MRI. Transverse myelitis and myeloradiculopathy affecting the conus medullaris and/or cauda equina are the most common spinal cord syndromes. Transverse myelitis can present as flaccid arreflexic paraplegia with sensory level and sphincter dysfunction. Praziquantel and corticoids have been successfully used to treat neuroschistosomiasis. Ventricle-peritoneal shunt may be necessary to treat hydrocephalus associated with tumor-like brain and/or cerebellar schistosomiasis. PMID:21073294

Carod-Artal, Francisco Javier

2010-11-01

294

[Indications for surgical treatment of pain and types of operations].  

PubMed

During the period from 1978 to 2003 in Institut for neurosurgery CCS and Neurosurgical hospital of MA in Belgrade, 3057 patients with pain syndroms in different localisations were operated. Before operation all conservative methods were exhausted. We made 248 microvacular decompressions in fossa cranii posterior, 1600 radiophrequent lessions of ggl. Gasseri and 64 avulsions of distal trigeminal branches in patients with trigeminal and glossopharingeal neuralgia, 128 chordotomies in patients with neurogenic and cancer pain, 62 DREZ operations in patients with paraplegia, cancer pain and postherpetic intercostal neuralgia. More than 900 patients have been operated because of neuropathic pain and trauma of peripheral nerves, and 48 patients were operated due to Phantomzs pain. We compared results of two alternative methods in treatment of trigeminal neuralgia (radiophrequent lesion of ggl. Gasseri and microvascular decompression in posterior fossa). PMID:16018405

Ivanovi?, S; Slavik, E; Anti?, B; Spaji?, M; Rasuli?, L

2004-01-01

295

Cerebral hemorrhage due to posterior reversible encephalopathy syndrome associated with autonomic dysreflexia in a spinal cord injury patient.  

PubMed

A 37-year-old man with C4-5 spinal cord injury (SCI) presented with abnormally high blood pressure after vesicocutaneous catheter exchange and was treated with antihypertensive agents. Two weeks later, he developed headache and visual disturbance, and presented with fluctuating blood pressure. Multiple subcortical hemorrhages in the left occipital and right frontal lobes occurred on the next day, and he died of increased intracranial pressure 3 weeks later. Based on the symptoms and computed tomography findings, the retrospective diagnosis was posterior reversible encephalopathy syndrome (PRES) due to autonomic dysreflexia (AD). AD occurs frequently in patients with quadriplegia and high paraplegia by distention of the bladder and bowel. PRES secondary to AD is very rare, but we must always be aware of this life-threatening complication in SCI patients. PMID:23006876

Yamashita, Tae; Hiramatsu, Hisaya; Sakai, Naoto; Namba, Hiroki

2012-01-01

296

Multifocal Epithelioid Hemangioendothelioma Derived from the Spine Region: Case Report and Literature Review  

PubMed Central

Background Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor with malignant biological behavior. It arises from endothelial cells, usually within soft tissues, and can occur in almost all locations. Case Report We report a unique case of a 25-year-old man who presented with sudden attacks of severe back pain followed by acute non-traumatic paraplegia. Emergency diagnostics revealed a pathologic fracture of the T7 vertebra with tumor tissue invasion of the spinal canal. Furthermore, multifocal metastases were found. Results To achieve en bloc resection, interdisciplinary surgical approaches were indicated. Despite multimodal therapy concepts, including radiotherapy and chemotherapy as well as endovascular embolization, the patient died within 8 weeks. Conclusion Prognosis of EHE is unpredictable and mainly determined by its location. The lesions are potentially aggressive; therefore, en bloc resection should be attempted whenever possible. However, as shown in the literature, only 15% of patients are suitable for total resection.

Kerry, G.; Marx, O.; Kraus, D.; Vogel, M.; Kaiser, A.; Ruedinger, C.; Steiner, H.H.

2012-01-01

297

[Rehabilitation for cancer patients].  

PubMed

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

2013-09-01

298

Epidural hematoma associated with spinal fracture in diffuse idiopathic skeletal hyperostosis.  

PubMed

The authors describe the clinical findings, radiographic appearance and surgical treatment of a spinal epidural hematoma (SEH) associated with spinal fracture in diffuse idiopathic skeletal hyperostosis (DISH). An 81-year-old male patient injured after falling from a 2.5 m tree presented with severe back pain. On plain radiographs and CT images, DISH with anterolateral osteophytes and fused thoracolumbar vertebrae was found along with a T12 fracture. Patient was initially treated with bed rest followed by placement into a body cast. Three weeks later, he presented with incomplete paraplegia of his lower limbs. CT images did not reveal any fracture displacement, but MRI images showed an epidural hematoma compressing the dura mater. The patient was successfully treated by posterior fixation surgery using pedicle screws and rod with vertebroplasty. We aimed to report a unique case of a SEH complicating a spinal fracture in DISH. PMID:24535802

Tauchi, Ryoji; Imagama, Shiro; Satake, Kotaro; Iwase, Toshiki; Ishiguro, Naoki

2014-01-01

299

[2 cases of vertebral hydatidosis treated by the association of surgery and mebendazole].  

PubMed

Two cases of vertebral hydatidosis were diagnosed only at the time of operation. The first one, a lumbar localisation treated as a tuberculosis, by posterior graft and chemotherapy went to a large vertebral destruction with paraplegia. An anterior approach revealed the hydatids. A large excision associated with graft and osteosynthesis gave only a temporary improvement, but the treatment by Mebendazol cured the neurological symptoms. The second case, with a large destruction of L5 and S1, was also treated as a tuberculosis even after a decompressive laminectomy and recognized at a second operation on the sacrum. A left paralysis, incompletely improved by a decompression, appeared as favourably influenced by Mebendazol. Epidemiologic conditions of hydatosis, difficulties of diagnosis of the rare bony localizations, are recalled. The great problem of treatment, especially in the most frequent vertebral lesions, where complete excision is impossible, appears as hopefully improved by Mebendazol. PMID:6222434

Cardona, J M; Giné, J; Flores, X; Algara, C; Ballester, J

1983-01-01

300

Fusing a lasting relationship between ER tubules  

PubMed Central

Atlastin is an integral membrane GTPase localized to the endoplasmic reticulum (ER). In vitro and in vivo analyses indicate that atlastin is a membrane fusogen capable of driving membrane fusion, suggesting a role in ER structure and maintenance. Interestingly, mutations in the human atlastin-1 gene, SPG3A, cause a form of autosomal dominant hereditary spastic paraplegia (HSP). The etiology of HSP is unclear but two predominant forms of the disorder are caused by mutant proteins that affect ER structure, formation, and maintenance in motor neurons. In this review, we describe what is known about the molecular mechanism of atlastin function and its potential role in HSP. Greater understanding of the function of atlastin and associated proteins should lend significant insight into normal ER biogenesis and maintenance, as well as the pathology of disease.

Moss, Tyler J.; Daga, Andrea; McNew, James A.

2011-01-01

301

Spina Bifida Cystica  

PubMed Central

The disappointing results of treatment in 270 consecutive unselected cases of spina bifida admitted during a 27-month period are detailed. Massive effort has led to much avoidable suffering at an exorbitant cost in manpower and money. This study confirms the validity of those adverse prognostic criteria defined in an earlier study and which form a basis for selection. These are (1) thoracolumbar lesions, (2) severe paraplegia, (3) gross enlargement of head, (4) kyphosis, and (5) other severe congenital defects, or birth injuries. It is shown again that selection is possible on the first day of life on purely objective criteria; that it is essential for the benefit of all those affected—whether they are for treatment or no treatment; and that it is in the interest of their families and the community. ImagesFIG. 2.FIG. 3.FIG. 4.FIG. 5.FIG. 6.FIG. 7.

Lorber, John

1972-01-01

302

[Robot-aided training in rehabilitation].  

PubMed

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

2010-02-01

303

Immunohistochemical localization of spatacsin in ?-synucleinopathies.  

PubMed

Spatacsin (SPG11) is a major mutated gene in autosomal recessive spastic paraplegia with thin corpus callosum (ARHSP-TCC) and is responsible for juvenile Parkinsonism. To elucidate the role of spatacsin in the pathogenesis of ?-synucleinopathies, an immunohistochemical investigation was performed on the brain of patients with Parkinson's disease (PD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) using anti-spatacsin antibody. In PD, Lewy bodies (LBs) in the brain stem were positive for spatacsin. These LBs showed intense staining in their peripheral portions and occasionally in the central cores. Lewy neurites were also spatacsin-positive. In DLB, cortical LBs were immunolabeled by spatacsin. In MSA, glial cytoplasmic inclusions (GCI) and a small fraction of neuronal cytoplasmic inclusions (NCI) were positive for spatacsin. The widespread accumulation of spatacsin observed in pathologic ?-synuclein-containing inclusions suggests that spatacsin may be involved in the pathogenesis of ?-synucleinopathies. PMID:24112408

Kuru, Satoshi; Yoshida, Mari; Tatsumi, Shinsui; Mimuro, Maya

2014-04-01

304

"Ears of the lynx" sign in a marchiafava-bignami patient: structural basis and fiber-tracking DTI contribution to the understanding of this imaging abnormality.  

PubMed

The "ears of the lynx" sign was previously reported as a neuroimaging finding observed in patients with autosomal recessive hereditary spastic paraplegia in association with a thin corpus callosum (ARHSP-TCC). We report a patient with a chronic form of Marchiafava-Bignami disease (MBD) that presented with this imaging feature. Diffusion tensor imaging (DTI) and fiber-tracking data support that this finding is a consequence of the structural derangement, which enlarges a preexisting border zone of the bundles of fibers from the corpus callosum (CC) genu to the forceps minor and anterior corona radiata. Therefore, we assume that despite their pathological differences, damage to the anterior portion of the CC is responsible for the imaging similarities between MBD and ARHSP-TCC. PMID:23216703

Pacheco, Felipe Torres; Rego, Milena Morais; do Rego, Jose Iram Mendonça; da Rocha, Antonio J

2014-01-01

305

Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.  

PubMed

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory involvement on sural nerve biopsy. Direct sequencing analysis of the BSCL2 gene in the three affected siblings revealed an S90L mutation. This report confirms the variability of clinical phenotypes associated with a BSCL2 Ser90Leu mutation and describes the first Italian family with this mutation. PMID:20806400

Luigetti, M; Fabrizi, G M; Madia, F; Ferrarini, M; Conte, A; Delgrande, A; Tonali, P A; Sabatelli, M

2010-09-01

306

Multiple Myeloma and Epidural Spinal Cord Compression : Case Presentation and a Spine Surgeon's Perspective  

PubMed Central

Multiple myeloma, a multicentric hematological malignancy, is the most common primary tumor of the spine. As epidural myeloma causing spinal cord compression is a rare condition, its therapeutic approach and clinical results have been reported to be diverse, and no clear guidelines for therapeutic decision have been established. Three patients presented with progressive paraplegia and sensory disturbance. Image and serological studies revealed multiple myeloma and spinal cord compression caused by epidural myeloma. Emergency radiotherapy and steroid therapy were performed in all three cases. However, their clinical courses and results were distinctly different. Following review of our cases and the related literature, we suggest a systematic therapeutic approach for these patients to achieve better clinical results.

Ha, Kee-Yong; Kim, Hyun-Woo

2013-01-01

307

Aggressive adenoid cystic carcinoma with asymptomatic spinal cord compression revealed by a "curtain sign".  

PubMed

The authors present a case of unusually aggressive adenoid cystic carcinoma of the head and neck. The patient presented with sciatica one year after initial diagnosis. She was otherwise asymptomatic. Complete work-up for bone involvement, included bone scan and MRI. The patient had painful osteolytic sacral metastasis and asymptomatic thoracic (T5) vertebral metastasis revealed by a typical curtain sign on MRI. The curtain sign, originally described by Trolard, is due to the displacement of the Trolard's membrane with the median ligament attaching the dura to the bone while there is a dorsal displacement and loosening of the posterior longitudinal ligament. The patient benefited from radiotherapy and did not develop respiratory distress, paraplegia or pain but died of liver metastases. PMID:22470582

J, Thariat; Fournier, Ls; C, Badoual; Marcy, Py; M, Housset

2008-01-01

308

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.

2008-01-01

309

Neonatal familial Evans syndrome associated with joint hypermobility and mitral valve regurgitation in three siblings in a Saudi Arab family  

PubMed Central

The occurrence of autoimmune hemolytic anemia and immune thrombocytopenia in the absence of a known underlying cause led to the diagnosis of Evans syndrome in a 9-month-old male. Subsequently, a similar diagnosis was made in two siblings (a 3-year-old boy and a 1-day-old girl). The 9-month-old had a chronic course with exacerbations. He was treated with steroids, intravenous immunoglobulin and colchiccine with a variable response. He died of congestive heart failure at the age of 8 years. The brother's disease course was one of remission and exacerbation. With time, remissions were prolonged and paralleled an improvement in joint hypermobility. The sister died of sepsis after a chronic course with severe exacerbattions. Only two families with Evans syndrome have been reported in the English medical literature. In one report (in a Saudi Arab family), the disease was associated with hereditary spastic paraplegia.

Ahmed, Fathelrahman E.; AlBakrah, Mohameed S.

2009-01-01

310

Spinal cord compression as initial presentation of metastatic occult follicular thyroid carcinoma  

PubMed Central

Metastatic tumors are the most common tumors of the spine, accounting for 98% of all spine lesions. But spinal cord compression as the initial presentation of metastatic occult follicular carcinoma without any thyroid enlargement is unusual and relatively rare. This report describes a 35-years-old female patient presenting with paraplegia and urinary incontinence for the last two months. She had no thyroid enlargement; no thyroid related symptoms and her biochemical thyroid profile was normal. Magnetic resonance imaging (MRI) of spine shows a huge mass compressing the spinal cord at D11-D12 involving both the spinal and paraspinal areas. The patient was treated by surgery and radioiodine ablation as the histopathology showed metastatic follicular thyroid carcinoma. This case was reported because of the rarity of the disease. Early diagnosis and initiation of the treatment should promise a good prognosis for a patient with metastatic spinal cord compression.

Khan, Md Nuruzzaman; Sharfuzzaman, AMSM; Mostafa, Md Golam

2014-01-01

311

Hybrid orthosis system with a variable hip coupling mechanism.  

PubMed

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

2006-01-01

312

Intramedullary conus metastasis from carcinoma lung  

PubMed Central

A 46-year-old male presented with progressive paraparesis and sensory impairment in both lower limbs since 2 months. He had urinary and bowel incontinence. On examination he had flaccid paraplegia with a sensory level at 11th dorsal vertebral level. Magnetic resonance imaging (MRI) scans of the lumbosacral spine showed an enhancing intramedullary lesion in the conus. The patient underwent excision of the conus mass. Histopathology confirmed the tumor to represent a poorly differentiated metastatic carcinoma from an unknown primary. A positron emission tomography-computed tomography (PET-CT) scan of the whole body revealed hypermetabolic activity in the hilum of the right lung confirmed to be a lung carcinoma on a CT-guided biopsy. The patient was undergoing chemoradiation at 1 month follow-up. The author's literature search has yielded only four other case reports of conus metastasis of which only one is in English literature. The present case report and review of literature are presented.

Mavani, Sandip B.; Nadkarni, Trimurti D.; Goel, Naina A.

2013-01-01

313

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.

2010-01-01

314

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: rousseau.h@chu-toulouse.fr; 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)

2012-02-15

315

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: inordon@sgul.ac.uk; 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)

2011-10-15

316

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

2013-01-01

317

Is clamp and sew still viable for thoracic aortic resection?  

PubMed Central

OBJECTIVE: The authors reviewed the morbidity and mortality of surgical resection of the descending thoracic and thoracoabdominal aorta using the clamp-and-sew technique. BACKGROUND: Paraplegia remains a devastating complication after thoracoabdominal aortic resection, despite many strategies for spinal cord protection. Because of its simplicity, clamp and sew has been the preferred technique at the University of Virginia for the thoracoabdominal aortic resection when proximal control is possible. METHODS: Between 1987 and 1994, the authors reviewed 91 consecutive patients who underwent thoracic aortic resection using clamp-and-sew techniques without any additional adjuncts for spinal cord protection. RESULTS: The average age of patients was 60.8 years; 57.1% were male. No intraoperative deaths occurred. In-hospital mortality was 13% (12/91), with an overall incidence of postoperative spinal cord injury manifested as paraparesis or paraplegia of 9.9% (9/91). Eighty-nine percent (81/91) of all repairs were completed with aortic clamp times of 40 minutes or less, and nearly six out of ten were completed in 30 minutes or less (53/91). Cross-clamp times were not significantly different between those patients who sustained neurologic injury and those who had no deficits. CONCLUSIONS: The authors conclude that clamp and sew is still a viable technique for thoracoabdominal aortic resection. Nearly all resections can be completed within 40 minutes of aortic occlusion. However, the "safe" duration of thoracic aortic occlusion remains unknown, and spinal cord injury can occur even with short clamp times. Reproducible, safe, and technically simple means of spinal cord protection must be developed.

Mauney, M C; Tribble, C G; Cope, J T; Tribble, R W; Luctong, A; Spotnitz, W D; Kron, I L

1996-01-01

318

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.

2013-01-01

319

Treating cerebral palsy with aculaser therapy  

NASA Astrophysics Data System (ADS)

A single, open and non comparative study was conducted at Anwar Shah Trust for C.P. & Paralysis in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (C.P.) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, diplegia, quadriplegia, monoplegia, sensory-neural deafness and speech disorders. In all 250 childern were treated and the data was gathered during a period of 3 years from December 2003 till December 2006. These children were further classified according to the type of C.P. (spastic, athetoid, mixed) they suffered from and associated Neurological Disorders. This article shows results in C.P. childern who were treated with ACULASER THERAPY for minimum 6 weeks and more or had minimum of 15 treatment sessions and more. This article also shows that those childern who were given a break in the treatment for 1 month to 1 year did not show any reversal of the signs and symptoms. Analysis of the data showed that out of 171 children with Spasticity and Stiffness 147 showed marked improvement showing 87% success rate, out of 126 children with Epileptic fits, there was a significant reduction in the intensity, frequency and duration of Epileptic fits in 91 children showing 72% success rate, out of 48 children with Cortical Blindness 30 children showed improvement accounting for 63% efficacy rate, out of 105 children with Hearing Difficulties, 63 showed marked improvement accounting for 60% improvement rate, out of 190 children with Speech Disorders 122 showed improvement reflecting 64% improvement rate, out of 96 children with Hemiplegia 71 showed improvement in movement, tone and power accounting for 74% improvement rate, out of 76 children with Quadriplegia 52 showed improvement in gross and fine motor functions showing 69% success rate and out of 58 children with Paraplegia of lower limbs 44 showed improvement in weight bearing, standing and movement accounting for 76% improvement rate.

Anwar, Shahzad; Nazir Khan, Malik M.; Nadeem Khan, Malik M.; Qazi, Faiza M.; Awan, Abid H.; Dar, Irfan

2008-03-01

320

Aculaser therapy for the treatment of cerebral palsy  

NASA Astrophysics Data System (ADS)

A single, open and non comparative study was conducted at Anwar Shah Trust for C.P. & Paralysis in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (C.P.) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, diplegia, quadriplegia, monoplegia, sensoryneural deafness and speech disorders. In all 500 children were treated and the data was gathered during a period of 4 years from December 2006 till December 2010. These children were further classified according to the type of C.P. (spastic, athetoid, mixed) they suffered from and associated Neurological Disorders. This article shows results in C.P. childern who were treated with ACULASER THERAPY for a minimum of 08 weeks and more or had minimum of 15 treatment sessions and more. This article also shows that those childern who were given a break in the treatment for 1 month to 1 year did not show any reversal of the signs and symptoms. Analysis of the data showed that out of 342 children with Spasticity and Stiffness 294 showed marked improvement showing 87% success rate, out of 252 children with Epileptic fits, there was a significant reduction in the intensity, frequency and duration of Epileptic fits in 182 children showing 72% success rate, out of 96 children with Cortical Blindness 60 children showed improvement accounting for 63% efficacy rate, out of 210 children with Hearing Difficulties, 126 showed marked improvement accounting for 60% improvement rate, out of 380 children with Speech Disorders 244 showed improvement reflecting 64 % improvement rate, out of 192 children with Hemiplegia 142 showed improvement in movement, tone and power accounting for 74% improvement rate, out of 152 children with Quadriplegia 104 showed improvement in gross and fine motor functions showing 69% success rate and out of 116 children with Paraplegia of lower limbs 88 showed improvement in weight bearing, standing and movement accounting for 76% improvement rate.

Anwar, Shahzad; Nazir Khan, Malik M.; Nadeem Khan, Malik M.; Qazi, Faiza M.; Awan, Abid H.; Ammad, Haseeb U.

2012-02-01

321

Efficacy and vasodilatory benefit of magnesium prophylaxis for protection against spinal cord ischemia.  

PubMed

Prevention of paraplegia remains an imperative issue in thoracoabdominal aortic surgery. The aim of this study was to assess the efficacy of a prophylactic magnesium infusion in a rat spinal cord ischemia model and to demonstrate spinal blood flow increase caused by the infusion. The study was conducted in two parts. Firstly, the neuroprotective effect of magnesium was assessed using a rat model with two different ischemic times: 10 min and 14 min. Spinal cord ischemia was induced by occlusion of the descending aorta. Rats in the treatment group were given a 100 mg/kg magnesium sulfate infusion before ischemia. Secondly, relative changes in spinal cord blood flow before and during ischemia were recorded using the laser Doppler flowmetry technique. Changes in blood flow were compared between the magnesium and control groups. Rats pretreated with magnesium showed good overall recovery after both 10 min (incidence of paraplegia 62.5% control vs. 37.5% Mg, n = 8 each) and 14 min (85.7% control vs. 57.1% Mg, n = 7 each) of ischemia, although the differences compared with controls were statistically insignificant. However, the magnesium group showed significantly better neurological performance during the early postischemic period. Comparison of changes in spinal circulation revealed less reduction in blood flow during ischemia in the magnesium-treated group. In conclusion, magnesium may have potential prophylactic benefits during ischemia by exerting a neuroprotective effect through vasodilation of the spinal cord vasculature. To our knowledge, this vasodilatory effect on the spinal cord has not previously been investigated. Optimization of the treatment regimen, however, is required. PMID:17484971

Kohno, Hiroki; Ishida, Atsushi; Imamaki, Mizuho; Shimura, Hitoshi; Miyazaki, Masaru

2007-05-01

322

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

PubMed Central

Background/objective Describe associations of occupational therapy (OT) interventions delivered during inpatient spinal cord injury (SCI) rehabilitation and patient characteristics with outcomes at the time of discharge and 1-year post-injury. Methods Occupational therapists at six inpatient rehabilitation centers documented detailed information about treatment provided. Least squares regression modeling was used to predict outcomes at discharge and 1-year injury anniversary for a 75% subset; models were validated with the remaining 25%. Functional outcomes for injury subgroups (motor complete low tetraplegia and motor complete paraplegia) also were examined. Results OT treatment variables explain a small amount of variation in Functional Independence Measure (FIM) outcomes for the full sample and significantly more in two functionally homogeneous subgroups. For patients with motor complete paraplegia, more time spent in clothing management and hygiene related to toileting was a strong predictor of higher scores on the lower body items of the self-care component of the discharge motor FIM. Among patients with motor complete low tetraplegia, higher scores for the FIM lower body self-care items were associated with more time spent on lower body dressing, manual wheelchair mobility training, and bathing training. Active patient participation during OT treatment sessions also was predictive of FIM and other outcomes. Conclusion OT treatments add to explained variance (in addition to patient characteristics) for multiple outcomes. The impact of OT treatment on functional outcomes is more evident when examining more homogeneous patient groupings and outcomes specific to the groupings. Note This is the third of nine articles in the SCIRehab series.

Ozelie, Rebecca; Gassaway, Julie; Buchman, Emily; Thimmaiah, Deepa; Heisler, Lauren; Cantoni, Kara; Foy, Teresa; Hsieh, Ching-Hui (Jean); Smout, Randall J.; Kreider, Scott E. D.; Whiteneck, Gale

2012-01-01

323

One-year follow-up of Chinese people with spinal cord injury: A preliminary study  

PubMed Central

Background A tertiary spinal cord injury (SCI) center was established in the northern region of Hong Kong, China and a multidisciplinary SCI rehabilitation program was developed to reintegrate patients into the community. Objective To investigate functional outcomes for Chinese people with SCI across a 1-year period. Design Longitudinal prospective design. Methods Thirty community-dwelling participants with traumatic SCI were recruited. Functional status was measured using functional independence measure (FIM) on admission, upon discharge, 1-month, 3-month, 6-month, and 1-year post-discharge. Information on use of assistive devices and life role were also obtained. Results Twenty-three (76.67%) participants were men. Seventeen participants (10 with tetraplegia and 7 with paraplegia) were classified ASIA A, B, or C; 13 (7 with tetraplegia and 6 with paraplegia) were classified as ASIA D. Significant differences in FIM motor scores were only found between the tetraplegia group and three other diagnostic groups using Bonferroni post-hoc tests of repeated measure ANOVA (analysis of variance) (P < 0.05). Longitudinally, contrast tests of repeated measure ANOVA showed significant differences during the hospitalization period for all diagnostic groups. People in the ASIA D group showed significant functional improvement even after 1-year post-discharge (P < 0.05). At 1-year post-discharge, only two participants were engaged in either remunerative employment or academic pursuit. Conclusion Despite functional status improvement, few people with traumatic SCI were re-engaged in productive life role 1 year after discharge. Studies with longer follow-up would be beneficial.

Chan, Sam Chi Chung; Chan, Alice Po Shan

2013-01-01

324

Significance and function of different spinal collateral compartments following thoracic aortic surgery: immediate versus long-term flow compensation.  

PubMed

Iatrogenic paraplegia has been accompanying cardiovascular surgery since its beginning. As a result, surgeons have been developing many theories about the exact mechanisms of this devastating complication. Thus, the impact of single arteries that contribute to the spinal perfusion is one of the most discussed subjects in modern surgery. The subsequent decision of reattachment or the permanent disconnection of these intercostal arteries divides the surgical community. On the one hand, the anatomical or vascular approach pleads for the immediate reimplantation to reconstruct the anatomical situation. On the other hand, the decision of the permanent disconnection aims at avoiding stealing phenomenon away from the spinal vascular network. This spinal collateral network can be described as consisting of three components-the intraspinal and two paraspinal compartments-that feed the nutrient arteries of the spinal cord. The exact functional impact of the different compartments of the collateral network remains poorly understood. In this review, the function of the intraspinal compartment in the context of collateral network principle as an immediate emergency backup system is described. The exact structure and architectural principles of the intraspinal compartment are described. The critical parameters with regard to the risk of postoperative spinal cord ischaemia are the number of anterior radiculomedullary arteries (ARMAs) and the distance between them in relation to the longitudinal extent of aortic disease. The paraspinal network as a sleeping reserve is proposed as the long-term backup system. This sleeping reserve has to be activated by arteriogenic stimuli. These are presented briefly, and prior findings regarding arteriogenesis are discussed in the light of the collateral network concept. Finally, the role of preoperative visualization of the ARMAs in order to evaluate the risk of postoperative paraplegia is emphasized. PMID:24078102

Meffert, Philipp; Bischoff, Moritz S; Brenner, Robert; Siepe, Matthias; Beyersdorf, Friedhelm; Kari, Fabian A

2014-05-01

325

[Spinal cord histoplasmoma. A case report].  

PubMed

Over a period of 2 months, a 60-year-old man, a chicken breeder, experienced low back pain, lower limb weakness predominant on the right side, and urinary difficulties, leading progressively to a flaccid paraplegia with sphincter impairment. Concomitant poor cognitive performances were noted. MRI showed enlargement of the conus terminalis, with a low-intensity signal on T1-weighted images, high-intensity signal on T2-weighted images, and areas of intramedullar contrast enhancement. A biopsy of the lesion showed macrophages containing yeast cells, with PAS and Grocott staining aspects compatible with the presence of Histoplasma capsulatum (Hc). A brain MRI showed multiple localizations in the brain stem and in both hemispheres with associated edema. Disseminated histoplasmosis was confirmed by a biopsy of a sub-maxillary ganglion demonstrating a necrotic tuberculoid lymphadenitis containing yeast cells resembling Hc. Immune tests disclosed the presence of HTLV1 anti-bodies without immunodeficiency nor HIV co-infection. An anti-micotic treatment was started 2 weeks after surgery, with intra-venous amphotericin B, for 21 days, followed by itraconazole, orally for 90 days. Cognitive functions improved significantly in 5 weeks while paraplegia and sphincter impairment remained unchanged. Seven months later, cerebral MR aspects dramatically improved while the conus medullaris lesion diminished, and the edematous component disappeared in all areas. Even though histoplasmosis is endemic in our region, CNS localization is rare, generally in disseminated forms associated with immunodeficiency. Brain granulomas are well-known, but spinal cord histoplasmomas are exceptional: only four cases have been evaluated by MRI. Unlike our case, spinal cord forms generally improve, due to surgery associated with antifungus medication, or sometimes due to specific medical treatment alone but with sufficient dosage. PMID:11972151

Rivierez, M; Heyman, D; Brebion, A; Landau-Ossondo, M; Desbois, N; Vally, P

2002-02-01

326

Operation of a brain-computer interface walking simulator for individuals with spinal cord injury  

PubMed Central

Background Spinal cord injury (SCI) can leave the affected individuals with paraparesis or paraplegia, thus rendering them unable to ambulate. Since there are currently no restorative treatments for this population, novel approaches such as brain-controlled prostheses have been sought. Our recent studies show that a brain-computer interface (BCI) can be used to control ambulation within a virtual reality environment (VRE), suggesting that a BCI-controlled lower extremity prosthesis for ambulation may be feasible. However, the operability of our BCI has not yet been tested in a SCI population. Methods Five participants with paraplegia or tetraplegia due to SCI underwent a 10-min training session in which they alternated between kinesthetic motor imagery (KMI) of idling and walking while their electroencephalogram (EEG) were recorded. Participants then performed a goal-oriented online task, where they utilized KMI to control the linear ambulation of an avatar while making 10 sequential stops at designated points within the VRE. Multiple online trials were performed in a single day, and this procedure was repeated across 5 experimental days. Results Classification accuracy of idling and walking was estimated offline and ranged from 60.5% (p?=?0.0176) to 92.3% (p?=?1.36×10?20) across participants and days. Offline analysis revealed that the activation of mid-frontal areas mostly in the ? and low ? bands was the most consistent feature for differentiating between idling and walking KMI. In the online task, participants achieved an average performance of 7.4±2.3 successful stops in 273±51 sec. These performances were purposeful, i.e. significantly different from the random walk Monte Carlo simulations (p<0.01), and all but one participant achieved purposeful control within the first day of the experiments. Finally, all participants were able to maintain purposeful control throughout the study, and their online performances improved over time. Conclusions The results of this study demonstrate that SCI participants can purposefully operate a self-paced BCI walking simulator to complete a goal-oriented ambulation task. The operation of the proposed BCI system requires short training, is intuitive, and robust against participant-to-participant and day-to-day neurophysiological variations. These findings indicate that BCI-controlled lower extremity prostheses for gait rehabilitation or restoration after SCI may be feasible in the future.

2013-01-01

327

Treatment of patients with aortic dissection presenting with peripheral vascular complications.  

PubMed Central

The incidence of peripheral vascular complications in 272 patients with aortic dissection during a 25-year span was determined, as was outcome after a uniform, aggressive surgical approach directed at repair of the thoracic aorta. One hundred twenty-eight patients (47%) presented with acute type A dissection, 70 (26%) with chronic type A, 40 (15%) with acute type B, and 34 (12%) with chronic type B dissections. Eighty-five patients (31%) sustained one or more peripheral vascular complications: Seven (3%) had a stroke, nine (3%) had paraplegia, 66 (24%) sustained loss of a peripheral pulse, 22 (8%) had impaired renal perfusion, and 14 patients (5%) had compromised visceral perfusion. Following repair of the thoracic aorta, local peripheral vascular procedures were unnecessary in 92% of patients who presented with absence of a peripheral pulse. The operative mortality rate for all patients was 25% +/- 3% (68 of 272 patients). For the subsets of individuals with paraplegia, loss of renal perfusion, and compromised visceral perfusion, the operative mortality rates (+/- 70% confidence limits) were high: 44% +/- 17% (4 of 9 patients), 50% +/- 11% (11 of 22 patients), and 43% +/- 14% (6 of 14 patients), respectively. The mortality rates were lower for patients presenting with stroke (14% +/- 14% [1 of 7 patients]) or loss of peripheral pulse (27% +/- 6% [18 of 66 patients]). Multivariate analysis revealed that impaired renal perfusion was the only peripheral vascular complication that was a significant independent predictor of increased operative mortality risk (p = 0.024); earlier surgical referral (replacement of the appropriate section of the thoracic aorta) or more expeditious diagnosis followed by surgical renal artery revascularization after a thoracic procedure may represent the only way to improve outcome in this high-risk patient subset. Early, aggressive thoracic aortic repair (followed by aortic fenestration and/or abdominal exploration with or without direct visceral or renal vascular reconstruction when necessary) can save some patients with compromised visceral perfusion; however, once visceral infarction develops the prognosis is also poor. Increased awareness of these devastating complications of aortic dissection and the availability of better diagnostic tools today may improve the survival rate for these patients in the future. The initial surgical procedure should include repair of the thoracic aorta in most patients.

Fann, J I; Sarris, G E; Mitchell, R S; Shumway, N E; Stinson, E B; Oyer, P E; Miller, D C

1990-01-01

328

Current management and outcome of chronic type B aortic dissection: results with open and endovascular repair since the advent of thoracic endografting  

PubMed Central

Background Thoracic endovascular aortic repair (TEVAR) has become the preferred treatment for chronic type B aortic dissection (CTBAD) at our institution. However, it remains incapable of treating all patients with CTBAD. The present study aims to review our contemporary results with open and endovascular CTBAD repairs since the advent of thoracic endografting. Methods The records of all patients undergoing index repair of CTBAD (chronic DeBakey type IIIA, IIIB and repaired type I) at our institution between June 2005 and December 2013, were retrospectively reviewed. Results A total of 107 patients underwent CTBAD repair, of whom 70% (n=75) underwent endovascular-based procedures [44 TEVAR, 27 hybrid arch and four hybrid thoracoabdominal aortic aneurysm (TAAA) repair] and 30% (n=32) underwent open procedures (nine open descending and 23 open TAAA). Connective tissue disease (CTD), prior aortic surgery and DeBakey dissection type were strongly associated with the choice of operation. The rates of stroke, paraplegia and operative mortality following endovascular-based repairs were 0%, 0% and 4% (n=3), respectively. Adverse neurologic events were higher following open repair, and rates of stroke, paraplegia, and operative mortality were 16% (n=5), 9% (n=3), and 6% (n=2), respectively. However, 1- and 5-year survival rates were similar for endovascular-based repairs (86% and 65%, respectively), and open repairs (88% and 79%, respectively). Over a median follow-up interval of 34 months, the rate of descending aortic reintervention was 24% (n=18) following endovascular-based repairs and 0% following open repairs (P=0.001). Forty-four percent (n=8) of descending aortic reinterventions were required to treat stent graft complications (five endoleak, two stent graft collapse and one stent graft-induced new entry tear) and the remainder were required to treat metachronous pathology (n=2) or progressive aneurysmal disease related to persistent distal fenestrations (n=8). Conclusions Endovascular repair of CTBAD was associated with excellent procedural and survival outcomes, but at the expense of further reinterventions. Open repair remains relevant for patients who are not candidates for endovascular repair and was associated with higher procedural morbidity but similar overall survival and fewer reinterventions.

Andersen, Nicholas D.; Keenan, Jeffrey E.; Ganapathi, Asvin M.; Gaca, Jeffrey G.; McCann, Richard L.

2014-01-01

329

Meta-Analysis of Pre-Clinical Studies of Early Decompression in Acute Spinal Cord Injury: A Battle of Time and Pressure  

PubMed Central

Background The use of early decompression in the management of acute spinal cord injury (SCI) remains contentious despite many pre-clinical studies demonstrating benefits and a small number of supportive clinical studies. Although the pre-clinical literature favours the concept of early decompression, translation is hindered by uncertainties regarding overall treatment efficacy and timing of decompression. Methods We performed meta-analysis to examine the pre-clinical literature on acute decompression of the injured spinal cord. Three databases were utilised; PubMed, ISI Web of Science and Embase. Our inclusion criteria consisted of (i) the reporting of efficacy of decompression at various time intervals (ii) number of animals and (iii) the mean outcome and variance in each group. Random effects meta-analysis was used and the impact of study design characteristics assessed with meta-regression. Results Overall, decompression improved behavioural outcome by 35.1% (95%CI 27.4-42.8; I2=94%, p<0.001). Measures to minimise bias were not routinely reported with blinding associated with a smaller but still significant benefit. Publication bias likely also contributed to an overestimation of efficacy. Meta-regression demonstrated a number of factors affecting outcome, notably compressive pressure and duration (adjusted r2=0.204, p<0.002), with increased pressure and longer durations of compression associated with smaller treatment effects. Plotting the compressive pressure against the duration of compression resulting in paraplegia in individual studies revealed a power law relationship; high compressive forces quickly resulted in paraplegia, while low compressive forces accompanying canal narrowing resulted in paresis over many hours. Conclusion These data suggest early decompression improves neurobehavioural deficits in animal models of SCI. Although much of the literature had limited internal validity, benefit was maintained across high quality studies. The close relationship of compressive pressure to the rate of development of severe neurological injury suggests that pressure local to the site of injury might be a useful parameter determining the urgency of decompression.

Skeers, Peta; Battistuzzo, Camila R.; Macleod, Malcolm R.; Howells, David W.; Sena, Emily S.

2013-01-01

330

Intradural extramedullary primary hydatid cyst of the spine: a case report and review of literature.  

PubMed

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

2013-05-01

331

Outdoor winter activities of spinal cord-injured patients. With special reference to outdoor mobility.  

PubMed

Two hundred forty-seven patients with spinal cord injuries living in Hokkaido, the northern part of Japan, were mailed a questionnaire relating to winter outdoor activities. One hundred eight patients responded to the questionnaire, 98 males and 10 females, with ages ranging from 30 to 79 (mean, 53.3) yr. Injury levels of patients were: cervical in 23 patients, thoracic and thoracolumbar in 47, and lumbar in 38. All respondents were unable to walk independently because of quadriplegia or paraplegia. Approximately 90 percent of respondents found it necessary to go outside during the winter season. Eighty-five percent were outside during the coldest period. The most common reasons for outdoor activities were shopping and routine doctor's appointments. The main method of ambulating outside was a manual and/or electrically operated wheelchair, sometimes in conjunction with an automobile. However, there were many problems reported in using wheelchairs; for example, wheels and casters were very slippery on the snow and ice, casters were easily buried in the snow, and wheelchair rims were very cold to handle. It was also pointed out that exposure to cold weather induced physical problems such as muscle spasticity, pain, and numbness of lower extremities. This survey revealed that spinal cord-injured patients would benefit from a wheelchair specifically designed for winter conditions. PMID:8534383

Shirado, O; Shundo, M; Kaneda, K; Strax, T E

1995-01-01

332

The Vocational Training FacilityAn Interactive Learning Program to Return Persons With Physical Disabilities to Employment.  

PubMed

This paper describes the results of the program-development phase of the Vocational Training Facility (VTF) taking place at the Palo Alto Veterans Affairs Medical Center Rehabilitation Research and Development Center. The VTF staff has developed a self-paced, multimedia curriculum comprised of adapted training packages, interactive videos, and additional training and testing materials designed to teach entry-level desktop publishing and reasonable accommodation skills to individuals with spinal cord injuries. The curriculum is taught via the Macintosh™ computer to allow independent, "hands-off" access to training materials. Each student is given an integrated workstation that is equipped with the Desktop Vocational Assistant Robot (De VAR); a set of low-and high-technology assistive hardware, software, and devices; and ergonomic furniture and adaptations customized to fit individual learning and access needs. Each student completes a 12-week, full-time training program followed by a 3-month internship with a local corporate sponsor. This paper summarizes the evaluation results of the VTF program by the first nine students, with spinal cord injuries ranging paraplegia to high-level quadriplegia, who have completed the program. PMID:24441006

Hammel, J M; Van Der Loos, H F; Lepage, P; Burgar, C; Perkash, I; Shafer, D; Topp, E; Lees, D

1994-01-01

333

Duloxetine for treatment of male sphincteric incontinence following partial conus medullaris infarction after coronary bypass surgery  

PubMed Central

Introduction Vascular spinal cord injury following coronary bypass grafting surgery is very rare and this is probably one of few reports of a presumptive partial conus medullaris lesion leading to sudden onset bladder and bowel incontinence which was managed using duloxetine, a selective serotonin and norepinephrine reuptake inhibitor. Duloxetine has been used in selected patients with post-prostatectomy sphincteric incontinence but not, to our knowledge, for spinal vascular lesions. Case presentation A 63-year-old Indian man developed bladder and bowel incontinence immediately following coronary bypass grafting surgery. Findings were suggestive of microcirculatory partial conus medullaris infarction. Based on his urodynamics findings he was managed with duloxetine, tolterodine and clean intermittent catheterization. The clinical presentation, serial urodynamic findings and implications are discussed. Conclusion Spinal injury following coronary bypass grafting is rare and devastating. It is important to be able to recognize the problem even when paraplegia is not noted, counsel the patient and manage the patient with the help of urodynamics. In patients with sphincteric incontinence, duloxetine may have a role in management.

2009-01-01

334

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

2012-01-01

335

Subunit Interactions and Cooperativity in the Microtubule-severing AAA ATPase Spastin*  

PubMed Central

Spastin is a hexameric ring AAA ATPase that severs microtubules. To see whether the ring complex funnels the energy of multiple ATP hydrolysis events to the site of mechanical action, we investigate here the cooperativity of spastin. Several lines of evidence indicate that interactions among two subunits dominate the cooperative behavior: (i) the ATPase activity shows a sigmoidal dependence on the ATP concentration; (ii) ATP?S displays a mixed-inhibition behavior for normal ATP turnover; and (iii) inactive mutant subunits inhibit the activity of spastin in a hyperbolic dependence, characteristic for two interacting species. A quantitative model based on neighbor interactions fits mutant titration experiments well, suggesting that each subunit is mainly influenced by one of its neighbors. These observations are relevant for patients suffering from SPG4-type hereditary spastic paraplegia and explain why single amino acid exchanges lead to a dominant negative phenotype. In severing assays, wild type spastin is even more sensitive toward the presence of inactive mutants than in enzymatic assays, suggesting a weak coupling of ATPase and severing activity.

Eckert, Thomas; Link, Susanne; Le, Doan Tuong-Van; Sobczak, Jean-Philippe; Gieseke, Anja; Richter, Klaus; Woehlke, Gunther

2012-01-01

336

Retrograde labeling, transduction, and genetic targeting allow cellular analysis of corticospinal motor neurons: implications in health and disease.  

PubMed

Corticospinal motor neurons (CSMN) have a unique ability to receive, integrate, translate, and transmit the cerebral cortex's input toward spinal cord targets and therefore act as a "spokesperson" for the initiation and modulation of voluntary movements that require cortical input. CSMN degeneration has an immense impact on motor neuron circuitry and is one of the underlying causes of numerous neurodegenerative diseases, such as primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). In addition, CSMN death results in long-term paralysis in spinal cord injury patients. Detailed cellular analyses are crucial to gain a better understanding of the pathologies underlying CSMN degeneration. However, visualizing and identifying these vulnerable neuron populations in the complex and heterogeneous environment of the cerebral cortex have proved challenging. Here, we will review recent developments and current applications of novel strategies that reveal the cellular and molecular basis of CSMN health and vulnerability. Such studies hold promise for building long-term effective treatment solutions in the near future. PMID:24723858

Jara, Javier H; Genç, Bar??; Klessner, Jodi L; Ozdinler, P Hande

2014-01-01

337

Hemoglobin E-beta thalassemia: factors affecting phenotype.  

PubMed

The phenotype of E-beta-thalassemia is affected by several genetic factors. The aim of this study was to analyze severity of E-beta-thalassemia and correlate with HbE, HbF, E/F ratios, beta-mutation and Xmn I polymorphism. Thirty cases of E-beta-thalassemia (23 with childhood onset) were studied. HbE levels were quantitated by HPLC. Xmn1 polymorphism and beta-mutations were studied by PCR-RFLP and ARMS respectively. Commonest features were pallor (100%), splenomegaly (74%), and hepatomegaly (65%), 43% (10/23) were on regular transfusions at diagnosis. One case presented with paraplegia. Patients heterozygous for Xmn I polymorphism (+/-) had later onset (>3 yrs) compared to homozygous (-/-) absence (0.5-2.8 yrs). Most (69.6%) showed beta-mutation IVS 1-5 (G-->C). Negative correlation was found between age of onset and HbE. Thus, presentation is similar to previously reported Thai cases. Heterozygosity of Xmn I polymorphism also delays disease onset. Early diagnosis facilitates appropriate management and prenatal diagnosis. PMID:15876597

Panigrahi, I; Agarwal, S; Gupta, T; Singhal, P; Pradhan, M

2005-04-01

338

Introduction: Chronic Medical Conditions and Depression: the View from Primary Care  

PubMed Central

Martin Hickman† maneuvered his way into the office and pulled up his sleeve as the medical assistant put the brake on his wheelchair and attached the blood pressure cuff around his oversized upper arm. A bulky 56-year-old man with a heavy shock of gray hair teetering on the edge of his forehead, his problem list included type 2 diabetes, chronic obstructive pulmonary disease, hypertension, obesity, and hyperlipidemia. For the past 15 years he has used a wheelchair due to T4 paraplegia from a gunshot wound. He has also suffers from bouts of major depression that respond to sertraline but never fully remit. As the medical assistant inflated the cuff, Mr. Hickman smiled weakly and maintained a cheerful façade even after she informed him that his blood pressure was 164/88 mm Hg and his glucose was 267 mg/dl (both well above goal). Later, on more careful questioning by his primary care physician, Hickman admitted that he was feeling “more down than usual” and that he sometimes neglected to take his diabetes medicine and blood pressure pills. Thinking back over the years he had cared for this patient, the physician recalled that December tended to be a particularly bad month. Social isolation, tolerable for most of the year, became painful around the holidays. December also happened to mark the anniversary of Hickman's spinal cord injury. The clock was running, the waiting room was full, and the physician realized he was already falling behind.

Kravitz, Richard L.; Ford, Daniel

2009-01-01

339

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

2012-07-01

340

Chooramani technique: A novel method of omental transposition in traumatic spinal cord injury  

PubMed Central

Background: Spinal cord injury often results in significant catastrophic disability. Placement of the intact omentum upon a recently traumatized spinal cord was found to be effective. It represents a very suitable organ for revascularization of the ischemic nervous tissue, due to its abundance in blood and lymph vessels and its capability to adhere to the surface of the lesion, with capillary overgrowing in 4-6 h. The traditional method of omentum transposition is a hectic and time-consuming two-stage procedure in which position is changed twice. The major disadvantage of this two-staged procedure is that it takes longer operative time, and there is high risk of infection due to change of position with an open wound. So there is a need for modifications so that the procedure can be made easier and complications can be avoided. Objective: To avoid the complications and to make the procedure easier, a single-staged procedure called ‘chooramani technique’ for omental transposition in spinal cord injury is proposed. Materials and Methods: The study was conducted on 16 patients of post-traumatic thoraco-lumbar spinal cord injury with paraplegia. Results: Complications like wound infection, incisional hernia, and CSF leak were avoided. Operative time reduced to approximately half. Conclusion: This modification of technique is relatively easy and can be adopted for patients undergoing omental transposition for spinal cord injury.

Chooramani, Gopal S.; Singh, Girish Kumar; Srivastava, Rajeshwar Nath; Jaiswal, Pramod Kumar; Srivastava, Chhitij

2013-01-01

341

The role of spartin and its novel ubiquitin binding region in DALIS occurrence.  

PubMed

Troyer syndrome is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene that results in a lack of expression of the truncated protein. Spartin is a multifunctional protein, yet only two conserved domains-a microtubule-interacting and trafficking domain and a plant-related senescence domain involved in cytokinesis and mitochondrial physiology, respectively-have been defined. We have shown that overexpressed spartin binds to the Ile44 hydrophobic pocket of ubiquitin, suggesting spartin might contain a ubiquitin-binding domain. In the present study, we demonstrate that spartin contributes to the formation of dendritic aggresome-like induced structures (DALIS) through a unique ubiquitin-binding region (UBR). Using short hairpin RNA, we knocked down spartin in RAW264.7 cells and found that DALIS frequency decreased; conversely, overexpression of spartin increased the percentage of cells containing DALIS. Using nuclear magnetic resonance spectroscopy, we characterized spartin's UBR and defined the UBR's amino acids that are key for ubiquitin binding. We also found that spartin, via the UBR, binds Lys-63-linked ubiquitin chains but does not bind Lys-48-linked ubiquitin chains. Finally, we demonstrate that spartin's role in DALIS formation depends on key residues within its UBR. PMID:24523286

Karlsson, Amelia B; Washington, Jacqueline; Dimitrova, Valentina; Hooper, Christopher; Shekhtman, Alexander; Bakowska, Joanna C

2014-04-01

342

Endovascular repair of type II and type III thoracoabdominal aneurysms.  

PubMed

Thoracoabdominal aortic aneurysms (TAAA) remain a challenging problem to manage. Operative care for patients afflicted with this devastating problem is associated with significant risks, including renal failure and paraplegia. Several techniques have been developed to help limit the risk for these complications, yet they still remain some of the greatest hurdles associated with these procedures. Endovascular technology is rapidly advancing and may provide an alternate approach to patients with TAAA. Endograft treatment of TAAA is possible with the use of fenestrated and/or branched aortic endografts. Although still early in its evolution, we are beginning to understand some of the risks and benefits of this approach to complex aortic disease. Fenestrated and branched aortic endografting may provide an option that has lower risk to patients. Spinal cord ischemia, however, still remains a critical problem in patients who require treatment of a significant portion of their aorta. In addition, renal failure is also still observed. The mechanisms leading to the development of these complications following endograft repair, however, may not be the same as observed with open TAAA repair. This review will highlight some of our current understandings of endovascular repair of thoracoabdominal aortic aneurysms. PMID:21810803

Mastracci, Tara M; Eagleton, Matthew J

2011-09-01

343

Spinal tuberculosis: A review  

PubMed Central

Spinal tuberculosis is a destructive form of tuberculosis. It accounts for approximately half of all cases of musculoskeletal tuberculosis. Spinal tuberculosis is more common in children and young adults. The incidence of spinal tuberculosis is increasing in developed nations. Genetic susceptibility to spinal tuberculosis has recently been demonstrated. Characteristically, there is destruction of the intervertebral disk space and the adjacent vertebral bodies, collapse of the spinal elements, and anterior wedging leading to kyphosis and gibbus formation. The thoracic region of vertebral column is most frequently affected. Formation of a ‘cold’ abscess around the lesion is another characteristic feature. The incidence of multi-level noncontiguous vertebral tuberculosis occurs more frequently than previously recognized. Common clinical manifestations include constitutional symptoms, back pain, spinal tenderness, paraplegia, and spinal deformities. For the diagnosis of spinal tuberculosis magnetic resonance imaging is more sensitive imaging technique than x-ray and more specific than computed tomography. Magnetic resonance imaging frequently demonstrates involvement of the vertebral bodies on either side of the disk, disk destruction, cold abscess, vertebral collapse, and presence of vertebral column deformities. Neuroimaging-guided needle biopsy from the affected site in the center of the vertebral body is the gold standard technique for early histopathological diagnosis. Antituberculous treatment remains the cornerstone of treatment. Surgery may be required in selected cases, e.g. large abscess formation, severe kyphosis, an evolving neurological deficit, or lack of response to medical treatment. With early diagnosis and early treatment, prognosis is generally good.

Garg, Ravindra Kumar; Somvanshi, Dilip Singh

2011-01-01

344

Percivall Pott: tuberculous spondylitis.  

PubMed

Tuberculous spondylitis, also known as Pott's disease, is an entity that produces a characteristic kyphotic deformity, and was described by Sir Percivall Pott in 1779 and 1782. The majority of his patients were infants and young children. Although the incidence of tuberculosis in the industrialized world has since declined dramatically, the number of cases of extrapulmonary disease, though small, has remained relatively unchanged. In developing countries, spondylitis is still generally a disease of children, but in Europe and North America, it more commonly involves older adults. Pott's spondylitis represents a reactivation of latent disease, frequently years after the initial infection. Clinical findings include complaints of back pain and symptoms of fever, chills, weight loss, malaise, and fatigue. Characteristically a late finding, paraplegia is occasionally the initial indicator of spinal involvement. There is an average delay of a year between the onset of symptoms and patient presentation. Plain spinal radiographs usually are the initial diagnostic modality utilized. Computed tomography scanning and magnetic resonance imaging can be used to further define the process. The differential diagnosis includes neoplasm, pyogenic or disseminated fungal infection, and sarcoid arthritis. PMID:8655942

Sternbach, G

1996-01-01

345

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.

1987-01-01

346

A case of a traumatic chyle leak following an acute thoracic spine injury: successful resolution with strict dietary manipulation  

PubMed Central

Background Chylothorax is a rare form of pleural effusion that can be associated with both traumatic and non-traumatic causes. Thoracic duct ligation is often the treatment of choice in postsurgical patients; however the optimal treatment of this disease process after traumatic injury remains unclear [1]. We present a rare case of a thoracic duct injury secondary to a blunt thoracic spine fracture and subluxation which was successfully treated non-operatively. Case Presentation A 51 year old male presented as a tier one trauma code due to an automobile versus bicycle collision. His examination and radiographic work-up revealed fractures and a subluxation at the third and fourth thoracic spine levels resulting in paraplegia. He also sustained bilateral hemothoraces secondary to multiple rib fractures. Drainage of the left hemothorax led to the diagnosis of a traumatic chylothorax. The thoracic spine fractures were addressed with surgical stabilization and the chylothorax was successfully treated with drainage and dietary manipulation. Conclusions This unusual and complex blunt thoracic duct injury required a multidisciplinary approach. Although the spine injury required surgical fixation, successful resolution of the chyle leak was achieved without surgical intervention.

2011-01-01

347

Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties.  

PubMed

Neuropathy target esterase (NTE) is a phospholipase/lysophospholipase associated with organophosphorus (OP) compound-induced delayed neurotoxicity (OPIDN). Distal degeneration of motor axons occurs in both OPIDN and the hereditary spastic paraplegias (HSPs). Recently, mutations within the esterase domain of NTE were identified in patients with a novel type of HSP (SPG39) designated NTE-related motor neuron disease (NTE-MND). Two of these mutations, arginine 890 to histidine (R890H) and methionine 1012 to valine (M1012V), were created in human recombinant NTE catalytic domain (NEST) to measure possible changes in catalytic properties. These mutated enzymes had decreased specific activities for hydrolysis of the artificial substrate, phenyl valerate. In addition, the M1012V mutant exhibited a reduced bimolecular rate constant of inhibition (k(i)) for all three inhibitors tested: mipafox, diisopropylphosphorofluoridate, and chlorpyrifos oxon. Finally, while both mutated enzymes inhibited by OP compounds exhibited altered time-dependent loss of their ability to be reactivated by nucleophiles (aging), more pronounced effects were seen with the M1012V mutant. Taken together, the results from specific activity, inhibition, and aging experiments suggest that the mutations found in association with NTE-MND have functional correlates in altered enzymological properties of NTE. PMID:20382209

Hein, Nichole D; Stuckey, Jeanne A; Rainier, Shirley R; Fink, John K; Richardson, Rudy J

2010-07-01

348

An integrated physical map of 8q22-q24: use in positional cloning and deletion analysis of Langer-Giedion syndrome.  

PubMed

We have developed an integrated map for a 35-cM area of human chromosome 8 surrounding the Langer-Giedion syndrome deletion region. This map spans from approximately 8q22 to 8q24 and includes 10 hybrid cell intervals, 89 polymorphic STSs, 118 ESTs, and 37 known genes or inferred gene homologies. The map locations of 25 genes including osteoprotegerin, syndecan-2, and autotaxin have been refined from the general locations previously reported. In addition, the map has been used to indicate the location of nine deletions in patients with Langer-Giedion syndrome and trichorhinophalangeal syndrome type I to demonstrate the potential usefulness of the map in the analysis of these complex syndromes. The map will also be of interest to anyone trying to clone positionally disease genes in this region, such as Cohen syndrome (8q22-q23), Klip-Feil syndrome (8q22.2), hereditary spastic paraplegia (8q24), and benign adult familial myoclonic epilepsy (8q23.3-q24.1). PMID:11161813

Hilton, M J; Gutiérrez, L; Zhang, L; Moreno, P A; Reddy, M; Brown, N; Tan, Y; Hill, A; Wells, D E

2001-01-15

349

Clinical usefulness of the transobturator sub-urethral tape in the treatment of stress urinary incontinence in female patients with spinal cord lesion  

PubMed Central

Objectives To evaluate the clinical usefulness of transobturator sub-urethral tapes for the treatment of stress urinary incontinence in women with spinal cord injury. Method and subjects Chart review for all female patients with spinal cord injury who underwent implantation of a transobturator sub-urethral tape for treatment of stress urinary incontinence at our institution. Results Nine women, median age 45.1 years, received a sub-urethral transobturator tape in the period November 2007 to September 2010. Four patients had paraplegia and five had tetraplegia. Seven women performed intermittent catheterization. At follow up, three of the nine patients were either cured or vastly improved. One major late complication (urethral erosion) occurred. Five of the six patients without treatment success underwent second-line treatment (artificial sphincter or urinary diversion). Conclusion In our case series, implantation of transobturator sub-urethral tapes in women with stress urinary continence due to intrinsic sphincter deficiency and a low leak point pressure led to unfavorable results.

Pannek, Juergen; Bartel, Peter; Gocking, Konrad

2012-01-01

350

A new technique using somatosensory evoked potential guidance during descending and thoracoabdominal aortic repairs.  

PubMed

Recent work in our laboratory has demonstrated the effectiveness of somatosensory evoked potentials (SEPs) in identifying the critical intercostal arteries (CICAs) for preserving spinal cord integrity during simulated aortic aneurysm repairs in the pig. Further studies have also demonstrated increased preservation of neurological function during prolonged aortic clamping if CICAs are perfused until ligation or clipping, as opposed to transaortic identification of back-bleeding intercostals and their subsequent ligation. We have developed a technique of repair of descending thoracic and thoracoabdominal aortic aneurysms and dissections that uses these principles. Since January 1993, 26 patients have undergone repair of their aortas using this new technique and SEP directed intercostal artery ablation. There were 22 (85%) long-term survivors among 10 thoracoabdominal and 16 descending aortic repairs. All patients with uncorrected abnormal SEP recordings developed paralysis; one patient who required reimplantation of an intercostal artery island into the aortic graft had normal neurological function postoperatively. Paraplegia was seen in only one of the surviving patients, but this patient had normal intra- and postoperative SEPs (4% false negative). Our experience suggests that SEP-guided obliteration of intercostal arteries while maintaining perfusion may be a useful approach to the surgical repair of descending and thoracoabdominal aortic disease. PMID:7841646

Galla, J D; Ergin, M A; Sadeghi, A M; Lansman, S L; Danto, J; Griepp, R B

1994-11-01

351

Myelo-meningocele: A multi-disciplinary problem  

PubMed Central

Background: Myelo-meningoceles are part of congenital afflictions of the spinal column. They arise from the failure of the neural tube to fuse properly during early embryonic growth. The causes and sequalae are multiple and, therefore, require multiple disciplines, to handle them. This study assessed the role of inter-disciplinary approach in the management of myelo-meningoceles. Materials and Methods: From 1975 to 2007, the author repaired 20 midline lumbar and lumbo-sacral myelo-meningoceles; 5 in Jamaica and 15 in Nigeria. There were 11 males and 9 females. Their ages, at operation, ranged from 1 to 168 days. All had urine and faecal incontinence and severe paraparesis to paraplegia. Skeletal deformities were present in 16 cases. The operations were carried out under routine general anaesthesia and in prone position. All cases were followed-up for up to 60 months, apart from one who died 4 days at home after discharge. Results: There were no deaths within the period of hospitalisation, usually about 14 days. Those followed-up have not made much improvement, though they were able to sit up without support and move around by shifting on their buttocks on the floor. Conclusion: We must continue to help these patients, but under the umbrella of specialised rehabilitation centres with the different specialists working together to make these patients attain a meaningful life and be useful to themselves and the society.

Nnamdi, Ibe Michael Onwuzuruike

2014-01-01

352

Recent Clinical Experience With Left Heart Bypass Using a Centrifugal Pump for Repair of Traumatic Aortic Transection  

PubMed Central

Objective To analyze the indications, results, and limitations of using left atrial to femoral artery (LA-FA) bypass to provide distal perfusion during repair of traumatic aortic injuries. Summary Background Data There is no consensus about the best method for repair of traumatic aortic transection. Distal aortic perfusion with LA-FA bypass and a centrifugal pump has been the authors’ preferred technique for injuries to the aortic isthmus and descending thoracic aorta. Methods From 1988 to 1998, the authors operated on 30 patients with traumatic aortic transection using LA-FA bypass. The mean age of the group was 36 ± 2 years. The mechanism of injury was from a motor vehicle accident in 97% of the cases. Distal aortic perfusion was maintained at 50 to 75 mm Hg with flow rates of 1.5 and 3 L/min. The mean aortic cross-clamp time was 38 ± 2 minutes, and the mean bypass time was 49 ± 2 minutes. Results No complications related to cannulation, arterial thromboembolism, renal failure, mesenteric ischemia, or hepatic insufficiency occurred. There were no cases of postoperative paraplegia and no deaths. Conclusion Left atrial to femoral artery bypass is a safe, simple, and effective adjunct to the repair of traumatic injuries to the thoracic aorta. Active distal aortic perfusion preserves spinal cord, mesenteric, and renal blood flow and eliminates the potential catastrophic consequence of spinal cord ischemia from an unexpectedly prolonged aortic cross-clamp time.

Szwerc, Michael F.; Benckart, Daniel H.; Lin, Jeffrey C.; Johnnides, Christopher G.; Magovern, James A.; Magovern, George J.; Magovern, George J.

1999-01-01

353

Infarct of the right basal ganglia in a male spinal cord injury patient: adverse effect of autonomic dysreflexia.  

PubMed

Autonomic dysreflexia is a clinical emergency that occurs in individuals with spinal cord injury at level T-6 and above. We present a 58-year-old male patient with paraplegia who developed a severe, recurrent, throbbing headache during the night, which was relieved by emptying the urinary bladder by intermittent catheterisation. As this person continued to get episodes of severe headache for more than 6 months, computed tomography (CT) of the brain was performed. CT revealed an infarct measuring 1.2 cm in the right basal ganglia. In order to control involuntary detrusor contractions, the patient was prescribed propiverine hydrochloride 15 mg four times a day. The alpha-adrenoceptor blocking drug doxazosin was used to reduce the severity of autonomic dysreflexia. Following 4 weeks of treatment with propiverine and doxazosin, the headache subsided completely. We learned from this case that bladder spasms in individuals with spinal cord injury can lead to severe, recurrent episodes of autonomic dysreflexia that, in turn, can predispose to vascular complications in the brain. Therefore, it is important to take appropriate steps to control bladder spasms and thereby prevent recurrent episodes of autonomic dysreflexia. Intermittent catheterisations along with an alpha-adrenoceptor blocking drug (doxazosin) and an antimuscarinic drug (propiverine hydrochloride) helped this individual to control autonomic dysreflexia, triggered by bladder spasms during the night. PMID:21442144

Vaidyanathan, Subramanian; Soni, Bakul M; Singh, Gurpreet; Hughes, Peter L; Pulya, Kamesh; Oo, Tun

2011-01-01

354

Monitoring standing wheelchair use after spinal cord injury: A case report  

PubMed Central

Purpose An important issue in spinal cord injury (SCI) research is whether standing can yield positive health benefits. However, quantifying dose of standing and establishing subject compliance with a standing protocol is difficult. This case report describes a method to monitor dose of standing outside the laboratory, describes the standing patterns of one subject, and describes this subject’s satisfaction with the standing protocol. Method A man with T-10 complete paraplegia agreed to have his commercially available standing wheelchair instrumented with a custom-designed logging device for a 2-year period. The micro-controller-based logger, under custom software control, was mounted to the standing wheelchair. The logger recorded date, duration, angle of standing, and start/stop times. Results The client exceeded a suggested minimum dosage of standing per month (130.4% of goal), choosing to stand for short bouts (mean = 11.57 min) at an average angle of 61 °, on an average 3.86 days per calendar week. He was generally very satisfied with the standing device and provided subjective reports of improved spasticity and bowel motility. Conclusions This case report describes a standing and surveillance system that allows quantification of standing dose. Future controlled studies are needed to evaluate whether standing can beneficially affect secondary complications after SCI.

Shields, Richard K.; Dudley-Javoroski, Shauna

2011-01-01

355

Treatment of osteoporotic vertebral compression fractures with percutaneous kyphoplasty: a report of 196 cases.  

PubMed

The incidence of osteoporotic vertebral compression fracture (OVCF) is increased recently. Percutaneous kyphoplasty (PKP) has recently been shown to have a curative effect on OVCF. Unfortunately, related complications arising from PKP cannot be ignored, such as cement leaks, fever, and intercostal neuralgia. This study aimed to investigate the common complications of PKP in the treatment of OVCF patients and analyze the causes and assess prevention and control measures. A total of 196 patients (204 vertebrae) underwent PKP procedures at the Department of Spine Surgery, Shenzhen Sixth People's Hospital, Guangdong, China, from June 2004 to August 2010. The data on incidence rates of the various complications were compiled. All patients were successfully operated without death, paraplegia, or pulmonary embolism. Incidence of various complications resulting from different types of bone cement leakage was 27.45 %, including 0.51 % for postoperative elevated fever, 4.08 % for intercostal neuralgia, 2.55 % for trailing of bone cement, 0.51 % for refracture at adjacent vertebrae, and 0.51 % for cerebrospinal fluid leakage. These results suggest that PKP is an effective surgical technique for the treatment of OVCF, resulting in limited trauma with satisfactory curative effects. Skillful mastery of this technology will help reduce the incidence rate of complications. PMID:23417109

Wang, Ertian; Yi, Hongwei; Wang, Min; Huang, Cao

2013-07-01

356

Chapter 3: neurology in ancient Egypt.  

PubMed

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

2010-01-01

357

Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice  

PubMed Central

SUMMARY Mutations in SPG4, encoding the microtubule-severing protein spastin, are responsible for the most frequent form of hereditary spastic paraplegia (HSP), a heterogeneous group of genetic diseases characterized by degeneration of the corticospinal tracts. We previously reported that mice harboring a deletion in Spg4, generating a premature stop codon, develop progressive axonal degeneration characterized by focal axonal swellings associated with impaired axonal transport. To further characterize the molecular and cellular mechanisms underlying this mutant phenotype, we have assessed microtubule dynamics and axonal transport in primary cultures of cortical neurons from spastin-mutant mice. We show an early and marked impairment of microtubule dynamics all along the axons of spastin-deficient cortical neurons, which is likely to be responsible for the occurrence of axonal swellings and cargo stalling. Our analysis also reveals that a modulation of microtubule dynamics by microtubule-targeting drugs rescues the mutant phenotype of cortical neurons. Together, these results contribute to a better understanding of the pathogenesis of SPG4-linked HSP and ascertain the influence of microtubule-targeted drugs on the early axonal phenotype in a mouse model of the disease.

Fassier, Coralie; Tarrade, Anne; Peris, Leticia; Courageot, Sabrina; Mailly, Philippe; Dalard, Cecile; Delga, Stephanie; Roblot, Natacha; Lefevre, Julien; Job, Didier; Hazan, Jamile; Curmi, Patrick A.; Melki, Judith

2013-01-01

358

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

2012-01-01

359

[Polyostotic fibrous dysplasia of the thoracic spine. A case study and review of the literature].  

PubMed

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

2009-12-01

360

The spectrum of seat belt syndrome among Canadian children: Results of a two-year population surveillance study  

PubMed Central

BACKGROUND Seat belts have been proven to save lives. However, if they are not properly fitted, ‘seat belt syndrome’ can occur. The aim of the present study was to describe injuries encountered in Canadian children with seat belt-associated injuries. METHODS Canadian paediatricians and paediatric subspecialists were surveyed monthly through the Canadian Paediatric Surveillance Program. Children younger than 18 years of age who were restrained in motor vehicles at the time of a collision, with abdominal or thoracolumbar spine injuries, were included. The children may have been restrained in child safety seats, booster seats, or two- or three-point seat belts. RESULTS Twenty-eight children, between two and 16 years of age, with injuries compatible with seat belt syndrome were reported in Canada between September 2003 and August 2005. Although 12 children were younger than eight years of age, only one was restrained in a booster seat and only four of the older children were properly restrained with a three-point seat belt. Twenty-four children had abdominal injuries. Of these, 18 had stomach and/or intestinal injuries and 11 had solid organ injuries. Twelve patients had a spinal fracture, including only five Chance-type fractures. Seven patients presented with paraplegia, and none of them recovered. CONCLUSION In Canada, over a two-year period, 28 children were reported to have sustained injuries consistent with seat belt syndrome; seven of these children remained paraplegic. These results emphasize the necessity to review restraints in motor vehicles to adequately protect children.

Santschi, Miriam; Lemoine, Claude; Cyr, Claude

2008-01-01

361

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: a_saratzis@yahoo.gr; Melas, N.; Ginis, G.; Lioupis, A.; Lykopoulos, D.; Lazaridis, J.; Kiskinis, Dimitrios [Aristotle University of Thessaloniki Papageorgiou General Hospital, Department of Surgery (Greece)

2007-04-15

362

Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.  

PubMed

Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed inconsistent results in patients harboring mutations in SPAST/SPG4 gene, responsible for the commonest form of hereditary spastic paraplegia (HSP). This paper is addressed to study the corticomotor excitability of the pathways to the upper limbs in SPG4 subjects. We assessed the corticomotor excitability of hand muscles in 12 subjects belonging to 7 unrelated SPG4 families and in 12 control subjects by stimulus-response curve [input-output (I-O) curve]. All the parameters of the recruitment curve (threshold, V50, slope and plateau) did not differ significantly from those of the controls. Presence of upper limb hyper-reflexia did not influence the results of I-O curve. Considering the multiplicity of possible genes/loci accounting for pure HSPs, performing TMS analyses could be helpful in differential diagnosis of pure HSPs in the absence of other clinical or neuroimaging tools. PMID:24648003

Ginanneschi, Federica; Carluccio, Maria A; Mignarri, Andrea; Tessa, Alessandra; Santorelli, Filippo M; Rossi, Alessandro; Federico, Antonio; Dotti, Maria T

2014-08-01

363

Souffle/Spastizin Controls Secretory Vesicle Maturation during Zebrafish Oogenesis  

PubMed Central

During oogenesis, the egg prepares for fertilization and early embryogenesis. As a consequence, vesicle transport is very active during vitellogenesis, and oocytes are an outstanding system to study regulators of membrane trafficking. Here, we combine zebrafish genetics and the oocyte model to identify the molecular lesion underlying the zebrafish souffle (suf) mutation. We demonstrate that suf encodes the homolog of the Hereditary Spastic Paraplegia (HSP) gene SPASTIZIN (SPG15). We show that in zebrafish oocytes suf mutants accumulate Rab11b-positive vesicles, but trafficking of recycling endosomes is not affected. Instead, we detect Suf/Spastizin on cortical granules, which undergo regulated secretion. We demonstrate genetically that Suf is essential for granule maturation into secretion competent dense-core vesicles describing a novel role for Suf in vesicle maturation. Interestingly, in suf mutants immature, secretory precursors accumulate, because they fail to pinch-off Clathrin-coated buds. Moreover, pharmacological inhibition of the abscission regulator Dynamin leads to an accumulation of immature secretory granules and mimics the suf phenotype. Our results identify a novel regulator of secretory vesicle formation in the zebrafish oocyte. In addition, we describe an uncharacterized cellular mechanism for Suf/Spastizin activity during secretion, which raises the possibility of novel therapeutic avenues for HSP research.

Riedel, Dietmar; Schomburg, Christoph; Cerda, Joan; Vollack, Nadine; Dosch, Roland

2014-01-01

364

Phosphoinositides Differentially Regulate Protrudin Localization through the FYVE Domain*  

PubMed Central

Protrudin is a FYVE (Fab 1, YOTB, Vac 1, and EEA1) domain-containing protein involved in transport of neuronal cargoes and implicated in the onset of hereditary spastic paraplegia. Our image-based screening of the lipid binding domain library revealed novel plasma membrane localization of the FYVE domain of protrudin unlike canonical FYVE domains that are localized to early endosomes. The membrane binding study by surface plasmon resonance analysis showed that this FYVE domain preferentially binds phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2), and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) unlike canonical FYVE domains that specifically bind phosphatidylinositol 3-phosphate (PtdIns(3)P). Furthermore, we found that these phosphoinositides (PtdInsP) differentially regulate shuttling of protrudin between endosomes and plasma membrane via its FYVE domain. Protrudin mutants with reduced PtdInsP-binding affinity failed to promote neurite outgrowth in primary cultured hippocampal neurons. These results suggest that novel PtdInsP selectivity of the protrudin-FYVE domain is critical for its cellular localization and its role in neurite outgrowth.

Gil, Jung-Eun; Kim, Eui; Kim, Il-Shin; Ku, Bonsu; Park, Wei Sun; Oh, Byung-Ha; Ryu, Sung Ho; Cho, Wonhwa; Heo, Won Do

2012-01-01

365

Contemplating complications: living the experience, learning the lessons.  

PubMed

Complications related to the use of new diagnostic and therapeutic techniques are inherent to innovation in medicine. Appropriate consent should be obtained before subjecting patients to these techniques. In spite of doing this, when a complication does occur, one can easily relate to its devastating impact on the patient and his/her relatives. The toll that such events take on the treating physician also needs to be considered. The burden of conscience when a patient consents to such a procedure with implicit faith in the physician is immense. A case of irreversible paraplegia due to non-target embolisation of the anterior spinal artery in a young lady undergoing bronchial artery embolisation for hemoptysis is discussed. A feeling of "sadness and guilt" and a scientific analysis of the cause for the adverse event result in changing the protocol of the procedure leading to increased safety for future patients. Wide consultation with colleagues and help from institutional review boards are useful in assuring the treating physician about the justification of performing such procedures and help in coping should complications occur. The manner in which these events are managed, especially by medical teachers in teaching hospitals, is an important learning point for medical students and doctors in training. The need for appropriate open forums in institutions is emphasised, where such events are shared by physicians, resulting in unburdening themselves and potentially in education for all present. PMID:23697495

Ramakantan, Ravi

2013-01-01

366

Isotopic scintigraphy combined with computed tomography: A useful method for investigating inefficiency of intrathecal baclofen.  

PubMed

Background: Intrathecal baclofen infusion is an established method for the treatment of generalized and disabling spasticity. The most frequent technical problems are due to catheter /pump disconnections, but diagnosis of dysfunction may be difficult. Case report: We report here the case of a 53-year-old woman with spastic paraplegia treated with intrathecal baclofen. Spasticity remained uncontrolled despite a gradual increase in baclofen dosage. On plain radiographs the distal end of the catheter was found to be pointing downwards with the catheter tip at level L5 and no apparent disconnection or failure. Indium111 diethylenetriamine penta-acetic acid (DTPA) scintigraphy combined with computed tomography revealed that the activity of the radioisotope was highest next to the first sacral vertebra and that there was no leakage. Radioisotope activity above the lumbar level was very low. The catheter tip was therefore repositioned to level T7. One month later, spasticity was well controlled and a second scintigraphy confirmed high activity of intrathecal radioisotope up to the basal cisterns. Discussion: The combination of Indium111 DTPA scinti-graphy with computed tomography allows anatomical and functional investigation of intrathecal drug administration. In this case report this approach showed that the inefficiency of intrathecal baclofen was due to the caudal orientation of the catheter. PMID:24715222

Frémondière, Flavie; Saoût, Virginie; Lacœuille, Franck; Ferrapie, Anne-Laure; Menei, Philippe; Couturier, Olivier; Richard, Isabelle; Dinomais, Mickaël

2014-06-25

367

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.  

PubMed

Amyotrophic lateral sclerosis (ALS) is a degenerative motor neuron disease leading to progressive paralysis that is generally fatal. Only 10% of cases are familial, a subset of which overlaps with frontotemporal dementia (FTD). Up to half of ALS patients have cognitive impairment, with 15% meeting the criteria for FTD. Clinical sequencing of UBQLN2 in a family with X-linked FTD/ALS with suspected incomplete penetrance, manifesting in both genders, revealed a P506S mutation in. Affected individuals were diagnosed with various conditions including hereditary spastic paraplegia (HSP), bulbar palsy and multiple sclerosis. The mutation in UBQLN2 was first identified in a 35-year-old female who presented with one year of progressive dysarthria, dyspnea, dysphagia, and cognitive decline. EMG suggested early motor neuron disease with prominent bulbar involvement. Her cognition declined rapidly and she developed extremity weakness. Her brother, initially diagnosed with HSP, and her second cousin, with primary lateral sclerosis, also have a P506S mutation in UBQLN2. In conclusion, the P506S mutation in UBQLN2 can affect both males and females and displays great phenotypic variability within the same family. Females can potentially have a more severe and rapidly progressive presentation than their male relatives. Additionally, the P506S mutation can also cause an FTD phenotype. PMID:23944734

Vengoechea, Jaime; David, Marjorie P; Yaghi, Shadi R; Carpenter, Lori; Rudnicki, Stacy A

2013-12-01

368

The health and life priorities of individuals with spinal cord injury: A systematic review  

PubMed Central

Determining the priorities of individuals with spinal cord injury (SCI) can assist in aligning research priorities which ultimately improve these individuals’ quality of life. This systematic review examined studies that directly surveyed people with SCI to ascertain their health priorities and life domains of importance. Twenty-four studies (combined sample of 5262) that met the inclusion criteria were identified using electronic databases (Medline, EMBASE, CINAHL, PsycINFO). The questionnaire methods and domains of importance were reviewed and described. While the questionnaires varied across the studies, a consistent set of priorities emerged. Functional recovery priorities were identified for the following areas: motor function (including arm/hand function for individuals with tetraplegia and mobility for individuals with paraplegia), bowel, bladder and sexual function. In addition, health, as well as relationships emerged as important life domains. The information from this study, which identified the priorities and domains of importance by individuals with SCI, may be useful for informing healthcare and research agenda-setting activities.

Simpson, Lisa A.; Eng, Janice J.; Hsieh, Jane T.C.; Wolfe, Dalton L.

2012-01-01

369

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.  

PubMed

Proteolipid protein 1 (PLP1) gene-related disorders due to mutations in the PLP1 include a wide spectrum of X-linked disorders ranging from severe connatal Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). Duplications, deletions or point mutations in coding and noncoding regions of the PLP1 gene may occur. We report the clinical, neuroradiologic and molecular findings in six patients from two unrelated families. The affected males showed severe mental retardation, spastic tetraparesis, inability of walking and pes cavus at onset in early infancy. Brain magnetic resonance imaging (MRI) showed hypomyelination and brain atrophy. Nystagmus was never observed. The affected females showed adult-onset progressive spastic paraparesis leading to wheel-chair dependency and subtle white matter changes on brain MRI. Molecular studies in the two families identified two different intronic mutations, the novel c.622+2T>C and the known c.622+1G>A, leading to the skipping of PLP1-exon 4. The clinical presentation of the affected males did not consistently fit in any of the PLP1-related disorder subtypes (i.e., connatal or classic PMD, SPG2 and 'PLP1 null syndrome'), and in addition, the carrier females were symptomatic despite the severe clinical picture of their respective probands. This study provides new insight into the genotype-phenotype correlations of patients with PLP1 splice-site mutations. PMID:23711321

Biancheri, Roberta; Grossi, Serena; Regis, Stefano; Rossi, Andrea; Corsolini, Fabio; Rossi, Daniela Paola; Cavalli, Pietro; Severino, Mariasavina; Filocamo, Mirella

2014-03-01

370

Spinal cord injury and protection.  

PubMed

Subsequent to traumatic injury of the spinal cord, a series of pathophysiological events occurs in the injured tissue that leads to tissue destruction and paraplegia. These include hemorrhagic necrosis, ischemia, edema, inflammation, neuronophagia, loss of Ca2+ from the extracellular space, and loss of K+ from the intracellular space. In addition, there is trauma-initiated lipid peroxidation and hydrolysis in cellular membranes. Both lipid peroxidation and hydrolysis can damage cells directly; hydrolysis also results in the formation of the biologically active prostaglandins and leukotrienes (eicosanoids). The time course of membrane lipid alterations seen in studies of antioxidant interventions suggests that posttraumatic ischemia, edema, inflammation, and ionic fluxes are the result of extensive membrane peroxidative reactions and lipolysis that produce vasoactive and chemotactic eicosanoids. A diverse group of compounds has been shown to be effective in ameliorating spinal cord injury in experimental animals. These include the synthetic glucocorticoid methylprednisolone sodium succinate (MPSS); the antioxidants vitamin E, selenium, and dimethyl sulfoxide (DMSO); the opiate antagonist naloxone; and thyrotropin-releasing hormone (TRH). With the exception of TRH, all of these agents have demonstrable antioxidant and/or anti-lipid-hydrolysis properties. Thus the effectiveness of these substances may lie in their ability to quench membrane peroxidative reactions or to inhibit the release of fatty acids from membrane phospholipids, or both. Whatever the mode of action, early administration appears to be a requirement for maximum effectiveness. PMID:3927795

Anderson, D K; Demediuk, P; Saunders, R D; Dugan, L L; Means, E D; Horrocks, L A

1985-08-01

371

Cerebrovascular disorders in childhood.  

PubMed

Cerebrovascular problems in childhood include diverse problems of vascular supply to the brain and occur with an overall frequency of from 5 to 8/100000 children/year. Signs and symptoms at manifestation are manifold. They depend not only on localization of the infarction but also on age at injury and specific risk factors. Acute arterial ischemic insult in neonates is oligosymptomatic (short-lasting seizures); hemiparesis is the most common symptom in children. Risk factors are multiple for both neonates and children, with more thromboembolic events in neonates and (infection-related) vasculopathies or cardiac problems in children. MRI (diffusion weighted) is the golden standard for diagnosis. In the absence of evidence for treatment in both groups, guidelines suggest use of platelet aggregation. There are some special indications for anticoagulation. Thrombolysis should be evaluated. Two-thirds of children and neonates face lifelong neurological and neuropsychological problems. Spinal artery ischemia presents with acute spinal symptoms, mostly paraplegia. Risk factors and prognosis are similar to cerebral insults. Sinus venous thromboses are significantly less common. Provoking factors in newborns are mainly neonatal problems, and in children infections, especially in the ENT region. For diagnosis the delta sign in CT is less sensitive than MR/MR venography. In the absence of any evidence, LMWH or heparinization for 3-6 months are recommended. Prognosis is better in children than in neonates. Deep vein thrombosis and/or young age worsen the outcome. PMID:23622311

Steinlin, Maja

2013-01-01

372

Radiotherapy of Bone Metastasis in Breast Cancer Patients - Current Approaches.  

PubMed

Bone metastases (BM) represent the most frequent indication for palliative radiotherapy in patients with breast cancer. BM increase the risk of skeletal-related events defined as pathological fractures, spinal cord compression, and, most frequently, bone pain. The therapeutic goals of palliative radiotherapy for BM are pain relief, recalcification, and stabilization, reducing spinal cord compression and minimizing the risk of paraplegia. In advanced tumor stages radiotherapy may also be used to alleviate symptoms of generalized bone metastasis. This requires an individual approach including factors, such as life expectancy and tumor progression at different sites. Side effects of radiation therapy of the middle and lower spine may include nausea and emesis requiring adequate antiemetic prophylaxis. Irradiation of large bone marrow areas may cause myelotoxicity making monitoring of blood cell counts mandatory. Radiotherapy is an effective tool in palliation treatment of BM and is part of an interdisciplinary approach. Preferred technique, targeting, and different dose schedules are described in the guidelines of the German Society for Radiooncology (DEGRO) which are also integrated in 2012 recommendations of the Working Group Gynecologic Oncology (AGO). PMID:22740796

Feyer, Petra C; Steingraeber, Maria

2012-04-01

373

Radiotherapy of Bone Metastasis in Breast Cancer Patients - Current Approaches  

PubMed Central

Bone metastases (BM) represent the most frequent indication for palliative radiotherapy in patients with breast cancer. BM increase the risk of skeletal-related events defined as pathological fractures, spinal cord compression, and, most frequently, bone pain. The therapeutic goals of palliative radiotherapy for BM are pain relief, recalcification, and stabilization, reducing spinal cord compression and minimizing the risk of paraplegia. In advanced tumor stages radiotherapy may also be used to alleviate symptoms of generalized bone metastasis. This requires an individual approach including factors, such as life expectancy and tumor progression at different sites. Side effects of radiation therapy of the middle and lower spine may include nausea and emesis requiring adequate antiemetic prophylaxis. Irradiation of large bone marrow areas may cause myelotoxicity making monitoring of blood cell counts mandatory. Radiotherapy is an effective tool in palliation treatment of BM and is part of an interdisciplinary approach. Preferred technique, targeting, and different dose schedules are described in the guidelines of the German Society for Radiooncology (DEGRO) which are also integrated in 2012 recommendations of the Working Group Gynecologic Oncology (AGO).

Feyer, Petra C.; Steingraeber, Maria

2012-01-01

374

A rare presentation of subacute progressive ascending myelopathy secondary to cement leakage in percutaneous vertebroplasty.  

PubMed

Percutaneous vertebroplasty is used to manage osteoporotic vertebral body compression fractures. Although it is relatively safe, complications after vertebroplasty ranging from minor to devastatingly major ones have been described. Cement leakage into the spinal canal is one such complication. Subacute progressive ascending myelopathy is an infrequent neurologic complication after spinal cord injury, typically presenting as ascending neurologic deficit within weeks after the initial insult. The precise cause of subacute progressive ascending myelopathy still remains an enigma, considering the rarity of this disorder. The authors present the case of a 62-yr-old woman with osteoporotic vertebral fracture who underwent percutaneous vertebroplasty and developed T6 complete paraplegia because of cement leakage. A few weeks later, the neurologic level ascended to higher cervical level (C3). To date, no case of subacute progressive ascending myelopathy secondary to cement leakage after percutaneous vertebroplasty has been reported. Literature is reviewed regarding subacute progressive ascending myelopathy, and the rehabilitation challenges in the management of this patient are discussed. PMID:24322431

Bhide, Rohit Prakash; Barman, Apurba; Varghese, Shiela Mary; Chatterjee, Ahana; Mammen, Suraj; George, Jacob; Thomas, Raji

2014-05-01

375

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.

2012-01-01

376

Non-traumatic anterior spinal cord infarction in a novice surfer: a case report.  

PubMed

We present a case involving a 24-year-old woman who developed anterior spinal cord infarction with paraplegia but preserved posterior column sensation shortly after her first surfing lesson. The clinical presentation and magnetic resonance imaging findings were compatible with anterior cord infarction from T11 to conus medullaris. However, a thorough diagnostic workup revealed no predisposing factors of ischemia. Like previously reported cases of surfer's myelopathy, our patient was inexperienced and lacked trained back muscles, though none of the previously related cases were reported to have anterior cord infarction. In this case report, we discuss the probable relationship between surfing and ischemic myelopathy. Non-traumatic myelopathy in surfing is a relatively new entity thought to occur in surfers while paddling their boards in a hyperextended position and perform the Valsalva maneuver while attempting to stand up on the boards, which may increase intra-spinal pressure. Increased awareness of this injury may make it possible to recognize its early symptoms and prevent further injury. PMID:21196015

Chung, Hsin-Yeh; Sun, Shu-Fen; Wang, Jue-Long; Lai, Ping-Hong; Hwang, Chiao-Wen

2011-03-15

377

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

2013-01-01

378

Neuroprotective effect of curcumin on spinal cord in rabbit model with ischemia/reperfusion  

PubMed Central

Background Ischemic/reperfusion (I/R) injury of the spinal cord is a serious complication that can result from thoracoabdominal aortic surgery. Objective To investigate the neuroprotective effect of curcumin against I/R injury in a rabbit model. Methods A total of 36 rabbits were randomly divided into three groups: sham, I/R, and curcumin-treated group. Rabbits were subject to 30-min aortic occlusion to induce transient spinal cord ischemia. Neurological function was observed after reperfusion and spinal cord segment (L3–L5) was collected for histopathological evaluation. Malondialdehyde (MDA) and total superoxide dismutase (SOD) activity were also assayed. Results Rabbits in I/R group were induced to paraplegia. While after 48-hour treatment, compared with I/R group, curcumin significantly improved neurological function, reduced cell apoptosis and MDA levels as well as increased SOD activity (P < 0.05). Conclusions The results suggest that curcumin, at least in an animal model, can attenuate transient spinal cord ischemic injury potentially via reducing oxidative damage, which may provide a novel approach in the treatment of spinal cord ischemic injury.

Liu, Zhi-Qiang; Xing, Shan-Shan; Zhang, Wei

2013-01-01

379

High incidence of morbidity following resection of metastatic pheochromocytoma in the spine.  

PubMed

Pheochromocytomas of the spine are uncommon and require careful preoperative planning. The authors retrospectively reviewed the charts of 5 patients with metastatic spinal pheochromocytoma who had undergone surgical treatment over the past 10 years at their medical center. They reviewed patient age, history of pheochromocytoma resection, extent and location of metastases, history of alpha blockage, surgical level, surgical procedure, postoperative complications, tumor recurrence, and survival. Metastases involved the cervical (1 patient), thoracic (3 patients), and lumbar (2 patients) levels. Preoperative treatment included primary pheochromocytoma resection, chemotherapy, alpha blockade, embolization, and radiation. Three patients had tumor recurrence, and 2 underwent 2-stage reoperations for tumor extension. Hemodynamic complications were common: 2 patients developed pulseless electrical activity arrest within 4 months after surgery, 1 patient had profound postoperative tachycardia with fever and an elevated creatine kinase level, and 1 patient experienced transient postoperative hypotension and paraplegia. One patient died of complications related to disseminated cerebral and spinal disease. With careful preoperative and surgical management, patients with symptomatic metastatic spinal pheochromocytoma can benefit from aggressive surgical treatment. Postoperative cardiovascular complications are common even months after surgery, and patients should be closely monitored long term. PMID:24725182

Kaloostian, Paul E; Zadnik, Patricia L; Kim, Jennifer E; Groves, Mari L; Wolinsky, Jean-Paul; Gokaslan, Ziya L; Witham, Timothy F; Bydon, Ali; Sciubba, Daniel M

2014-06-01

380

[The features of cardio-respiratory system and autonomic regulation in parasportsmen with spinal injury].  

PubMed

A comprehensive study of the functional state of basketball athletes in wheelchairs with spinal cord injuries in the T6-T10 and paraplegia (n = 9, mean age 26.6 +/- 1.7 years) was held. As a control, we used disability groups with a similar injury, leading an active life (n = 13, mean age 44.5 +/- 2.6 years), athletes ( = 14, mean age 24.6 +/- 1.3 years) and healthy physically active men (n = 15, the average age of 24.9 +/- 0.6 years). In the athletes in wheelchairs it was revealed an increase in the length of the body in a sitting position, the increase in tidal volume and increasing in the effectiveness of the functional respiratory tests. These changes in the state of the musculoskeletal system and autonomic systems to ensure physical activity classified as adaptive and due to sports training. In the state of the cardiovascular system and its autonomic regulation parasportsmen showed a reduction in trauma-induced increase in diastolic blood pressure and increase in the magnitude of arterial baroreflex sensitivity, decreased due to spinal injury. These data indicate availability of compensatory processes aimed at optimizing the cardiovascular system through the mechanisms of baroreflex regulation. PMID:23101369

Ternovo?, K S; Romanchuk, A P; Sorokin, M Iu; Pankova, N B

2012-01-01

381

An ESCRT-spastin interaction promotes fission of recycling tubules from the endosome  

PubMed Central

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.

Allison, Rachel; Lumb, Jennifer H.; Fassier, Coralie; Connell, James W.; Ten Martin, Daniel; Seaman, Matthew N.J.; Hazan, Jamile

2013-01-01

382

Structural basis for the nucleotide-dependent dimerization of the large G protein atlastin-1/SPG3A  

PubMed Central

The large GTPase atlastin belongs to the dynamin superfamily that has been widely implicated in facilitating membrane tubulation, fission, and in select cases, fusion. Mutations spread across atlastin isoform 1 (atlastin-1) have been identified in patients suffering from hereditary spastic paraplegia (HSP), a neurodegenerative disorder affecting motor neuron function in the lower extremities. On a molecular level, atlastin-1 associates with high membrane curvature and fusion events at the endoplasmic reticulum and cis-Golgi. Here we report crystal structures of atlastin-1 comprising the G and middle domains in two different conformations. Although the orientation of the middle domain relative to the G domain is different in the two structures, both reveal dimeric assemblies with a common, GDP-bound G domain dimer. In contrast, dimer formation in solution is observed only in the presence of GTP and transition state analogs, similar to other G proteins that are activated by nucleotide-dependent dimerization. Analyses of solution scattering data suggest that upon nucleotide binding, the protein adopts a somewhat extended, dimeric conformation that is reminiscent of one of the two crystal structures. These structural studies suggest a model for nucleotide-dependent regulation of atlastin with implications for membrane fusion. This mechanism is affected in several mutants associated with HSP, providing insights into disease pathogenesis.

Byrnes, Laura J.; Sondermann, Holger

2011-01-01

383

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.

2012-01-01

384

Acute pyogenic necrotizing encephalomyelitis: a fulminant and fatal infection.  

PubMed

In this report the authors describe a rare case of a fulminant, pyogenic, necrotizing infection of the spinal cord and brain. Necrotizing lesions of the brain and spinal cord are usually infectious in origin and are associated with high rates of morbidity and death. Although the pathogens responsible have been identified in a few instances, the causal factors remain unknown in many cases. An 11-year-old girl developed acute, rapidly progressive paraplegia with bladder involvement and sensory loss below T-10. She had been treated recently for a Staphylococcus aureus infection of the knee joint precipitated by a penetrating injury with organic matter in the aftermath of a cyclone. Although appropriate antibiotic therapy was instituted, the spinal cord infection progressed to involve the entire spinal cord, brainstem, and brain. This fulminant course was marked by a rapid deterioration in the patient's clinical condition, ultimately leading to her death. Magnetic resonance imaging demonstrated a previously undescribed pattern of longitudinal enhancement along the spinal cord, as well as the white matter tracts in the brainstem and brain. The possible route of spread of infection along the neuraxis is postulated to be the potential space along the white matter tracts. Treatment is not standardized due to the rarity of the condition. PMID:23495810

Madhugiri, Venkatesh Shankar; Gundamaneni, Sudheer Kumar; Santosh, Vani; Jagadisan, Barath; Sasidharan, Gopalakrishnan Madhavan; Roopesh-Kumar, Rathakrishnan V; Yadav, Awdhesh Kumar; Singh, Manish; Ananthakrishnan, Ramesh; Pariarath, Nisha; Biswal, Niranjan

2013-05-01

385

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.

2012-01-01

386

The AIDS dementia complex: I. Clinical features.  

PubMed

Of 70 autopsied patients with the acquired immune deficiency syndrome (AIDS), 46 suffered progressive dementia that was frequently accompanied by motor and behavioral dysfunction. Impaired memory and concentration with psychomotor slowing represented the most common early presentation of this disorder, but in nearly one half of the patients either motor or behavioral changes predominated. Early motor deficits commonly included ataxia, leg weakness, tremor, and loss of fine-motor coordination, while behavioral disturbances were manifested most commonly as apathy or withdrawal, but occasionally as a frank organic psychosis. The course of the disease was steadily progressive in most patients, and at times was punctuated by an abrupt acceleration. However, in 20% of patients a more protracted indolent course was observed. In the most advanced stage of this disease, patients exhibited a stereotyped picture of severe dementia, mutism, incontinence, paraplegia, and in some cases, myoclonus. The high incidence and unique clinical presentation of this AIDS dementia complex is consistent with the emerging concept that this complication is due to direct brain infection by the retrovirus that causes AIDS. PMID:3729308

Navia, B A; Jordan, B D; Price, R W

1986-06-01

387

Spinal cord injuries in children and adolescents.  

PubMed

This chapter provides an overview of spinal cord injuries (SCI) in children and adolescents, including epidemiology, medical and musculoskeletal complications, rehabilitation and psychosocial aspects. Males are more commonly affected than females during adolescence; however, as the age at injury decreases, the preponderance of males becomes less marked, and by 3 years of age the number of females with SCIs equals that of males. The neurologic level and degree of completeness varies with age; among children injured prior to 12 years of age approximately two-thirds are paraplegic and approximately two-thirds have complete lesions. Among adolescents, approximately 50% have paraplegia and 55% have complete lesions. Management of pediatric-onset SCI should be family centered and developmentally based, responsive to the dynamic changes that occur during growth and development. Distinctive anatomical and physiological features of children and adolescents, along with growth and development, are responsible for unique manifestations and complications of pediatric SCI. SCI without radiological abnormalities (SCIWORA), birth injuries, lap-belt injuries, upper cervical injuries, and the delayed onset of neurological deficits are relatively unique to pediatric SCI. Children who sustain their SCI before puberty experience a higher incidence of musculoskeletal complications, such as scoliosis and hip dislocation. PMID:23098710

Vogel, Lawrence C; Betz, Randall R; Mulcahey, M J

2012-01-01

388

Metabolic changes in the thalamus after spinal cord injury followed by proton MR spectroscopy.  

PubMed

Our study followed the changes in thalamic nuclei metabolism, hindlimb sensitivity to thermal stimulation, and locomotor function after spinal cord injury (SCI). MR spectroscopy (MRS) was used to examine the thalamic nuclei of rats 1 day before and 1, 3, 6, and 15 days after SCI or sham surgery. All animals were tested before MRS measurements for motor performance and thermal sensitivity. SCI induced by balloon compression caused complete paraplegia from the first to third day, followed by partial functional recovery during the second week. MRS revealed an increase in N-acetylaspartate (NAA) concentration in the thalamic nuclei on the first day after SCI, which decreased by the third day. The data also showed an increase in inositol (Ins), glutamate, and creatine (Cr) concentrations on the third day postinjury; the Ins concentration remained elevated on the sixth day. In sham-operated animals an increase in NAA concentration was observed on the sixth and fifteenth days after surgery and an increase in Cr concentration on the third day. A positive correlation between Ins concentration and hindlimb sensitivity in both SCI and sham-operated animals suggests changes in glial activity, while changes in NAA levels may indicate the response of thalamic neuronal cells to injury. PMID:18219631

Likavcanová, Katarína; Urdzíková, Lucia; Hájek, Milan; Syková, Eva

2008-03-01

389

Fishing for causes and cures of motor neuron disorders  

PubMed Central

Motor neuron disorders (MNDs) are a clinically heterogeneous group of neurological diseases characterized by progressive degeneration of motor neurons, and share some common pathological pathways. Despite remarkable advances in our understanding of these diseases, no curative treatment for MNDs exists. To better understand the pathogenesis of MNDs and to help develop new treatments, the establishment of animal models that can be studied efficiently and thoroughly is paramount. The zebrafish (Danio rerio) is increasingly becoming a valuable model for studying human diseases and in screening for potential therapeutics. In this Review, we highlight recent progress in using zebrafish to study the pathology of the most common MNDs: spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP). These studies indicate the power of zebrafish as a model to study the consequences of disease-related genes, because zebrafish homologues of human genes have conserved functions with respect to the aetiology of MNDs. Zebrafish also complement other animal models for the study of pathological mechanisms of MNDs and are particularly advantageous for the screening of compounds with therapeutic potential. We present an overview of their potential usefulness in MND drug discovery, which is just beginning and holds much promise for future therapeutic development.

Patten, Shunmoogum A.; Armstrong, Gary A. B.; Lissouba, Alexandra; Kabashi, Edor; Parker, J. Alex; Drapeau, Pierre

2014-01-01

390

Experimental myelitis caused by herpes simplex virus type 2 in C57BL/6N and BALB/cN mice  

PubMed Central

Intraperitoneal and intracranial inoculation of herpes simplex virus type 2 (HSV 2) into BALB/cN and C57BL/6N mice was carried out to induce experimental myelitis. The myelitis was clearly observed in C57BL/6N mice following intraperitoneal inoculation. Within 24 hours before death, the mice showed urinary and rectal incontinence and paraplegia of the hind legs. Randomly distributed, severe necrosis was demonstrated in the spinal cord, mainly at the lower cord. In BALB/cN mice the clinical symptoms were not clearly observed, as the mice died shortly after their onset. Although spinal cord necrosis was more prominent in C57BL/6N mice than BALB/cN mice, brain necrosis was only found in the latter, and not in the former. Both strains of mouse showed marked nuclear pyknosis of the nerve cells and slight nuclear pyknosis of the astrocytes in the brain where HSV 2 antigen was demonstrated immunohistochemically. The antigen was also detected in the necrotic spinal cord. In contrast, intracranial inoculation of the virus into both strains did not cause myelitis. Spinal cord necrosis was not demonstrated and virus DNA was not detected, by PCR, in spinal cord samples. In the brain, however, the virus was demonstrated by both PCR and immunohistochemistry.

KINJO, TAKAO; TSUHAKO, KYOKO; SIRIRUNGSI, WASNA; SUNAGAWA, KAZUYA; NAKAZATO, IWAO; IWAMASA, TERUO

1997-01-01

391

[Long-term survival in patients with metastatic renal cell carcinoma managed with conservative therapy: a report of two cases].  

PubMed

Case 1. A 58-year-old man underwent radical nephrectomy due to a tumor in the left kidney (renal cell carcinoma, clear cell subtype, G3, pT1bpN0) in 1988. Thirteen years later, he underwent surgical resection of metastases to lung and cerebrum and gamma ray knife resection of two other sites of metastases to cerebrum in 2001. He had no evidence of disease in April, 2003. Case 2. A 53-year-old man underwent radical nephrectomy due to a tumor in the right kidney (renal cell carcinoma, clear cell type, pT1apN0) in 1987. From 1996 to 2001, irradiation therapy to multiple metastases to thoracic vertebrae (50 Gy), rib (50 Gy), para-aorta lymph nodes (40 Gy), sacrum (44 Gy) and sternum (44 Gy), and surgical resection of dermal metastasis were performed. Paraplegia occurred due to regrowth of thoracic bone metastasis in December, 2001. In February, 2002, he died of septic shock caused by infection of decubitus. Surgical resection and palliative therapy of recurrent metastatic foci was useful to improve the quality of life and probably prognosis. PMID:15518127

Ozeki, Zen; Kobayashi, Shuichiro; Machida, Tatuya; Ishizaka, Kazuhiro; Kihara, Kazunori

2004-09-01

392

Proteolipid Protein Is Required for Transport of Sirtuin 2 into CNS Myelin  

PubMed Central

Mice lacking the expression of proteolipid protein (PLP)/DM20 in oligodendrocytes provide a genuine model for spastic paraplegia (SPG-2). Their axons are well myelinated but exhibit impaired axonal transport and progressive degeneration, which is difficult to attribute to the absence of a single myelin protein. We hypothesized that secondary molecular changes in PLPnull myelin contribute to the loss of PLP/DM20-dependent neuroprotection and provide more insight into glia-axonal interactions in this disease model. By gel-based proteome analysis, we identified >160 proteins in purified myelin membranes, which allowed us to systematically monitor the CNS myelin proteome of adult PLPnull mice, before the onset of disease. We identified three proteins of the septin family to be reduced in abundance, but the nicotinamide adenine dinucleotide (NAD+)-dependent deacetylase sirtuin 2 (SIRT2) was virtually absent. SIRT2 is expressed throughout the oligodendrocyte lineage, and immunoelectron microscopy revealed its association with myelin. Loss of SIRT2 in PLPnull was posttranscriptional, suggesting that PLP/DM20 is required for its transport into the myelin compartment. Because normal SIRT2 activity is controlled by the NAD+/NADH ratio, its function may be coupled to the axo-glial metabolism and the long-term support of axons by oligodendrocytes.

Werner, Hauke B.; Kuhlmann, Katja; Shen, Siming; Uecker, Marina; Schardt, Anke; Dimova, Kalina; Orfaniotou, Foteini; Dhaunchak, Ajit; Brinkmann, Bastian G.; Mobius, Wiebke; Guarente, Lenny; Casaccia-Bonnefil, Patrizia; Jahn, Olaf; Nave, Klaus-Armin

2009-01-01

393

Aortic Replacement with Sutureless Intraluminal Grafts  

PubMed Central

To avoid the anastomotic complications and long cross-clamp times associated with standard suture repair of aortic lesions, we have implanted sutureless intraluminal grafts in 122 patients since 1976. Forty-nine patients had disorders of the ascending aorta, aortic arch, or both: their operative mortality was 14% (7 patients), and the group's 5-year actuarial survival rate has been 64%. There have been no instances of graft dislodgment, graft infection, aortic bleeding, or pseudoaneurysm formation. Forty-two patients had disorders of the descending aorta and thoracoabdominal aorta: their early mortality was 10% (4 patients), and the group's 5-year actuarial survival rate has been 56%. There was 1 early instance of graft dislodgment, but no pseudoaneurysm formation, graft erosion, aortic bleeding, intravascular hemolysis, or permanent deficits in neurologic, renal, or vascular function. Thirty-one patients had the sutureless intraluminal graft implanted in the abdominal aortic position: their early mortality was 6% (2 patients), and the 5-year actuarial survival rate for this group has been 79%. There were no instances of renal failure, ischemic complication, postoperative paraplegia, pseudoaneurysm, or anastomotic true aneurysm. Our recent efforts have been directed toward developing an adjustable spool that can adapt to the widest aorta or the narrowest aortic arch vessel; but in the meanwhile, the present sutureless graft yields shorter cross-clamp times, fewer intraoperative complications, and both early and late results as satisfactory as those afforded by traditional methods of aortic repair. (Texas Heart Institute Journal 1990; 17:302-9) Images

Lemole, Gerald M.

1990-01-01

394

[Infections due to herpes-varicella viruses in Hodgkin's disease (author's transl)].  

PubMed

The infections due to herpes-varicella viruses occurring in 191 patients with Hodgkin's disease form the basis of this report. There were overall 41 episodes (26.7%) in 40 patients, distributed as follows: varicella in three cases, atypical herpes-varicella in two cases, and herpes zoster in 36 cases, the latter showing systemic spread in seven instances, one to the central nervous system (myelitis) and six to the skin. The mortality was 2.5% of all infections, and 33% of the varicella cases. Morbidity was apparent as postherpetic neuralgia in seven patients (19.4%), postherpetic paraplegia in one case (2.5%), and severe thrombocytopenia in another case (2.5%). The statistical study of the factors contributing to the development of reactivation episodes demonstrated that neither age, sex, or previous splenectomy were influential. The results obtained in relation to the stage and histologic type of Hodgkin's disease can not be fully evaluated because of the artifact introduced by other variables such as type of therapy and observation time. There was a clear relationship with the aggressiveness of therapy, because 81.7% of the viral episodes occurred in patients submitted to total radiotherapy with or without chemotherapy, or with partial radiotherapy plus chemotherapy. In the patients with systemic spread there was a clear relationship with prior splenectomy (p less than 0.005). The clinical features of these patients are commented upon. PMID:6264237

Redón, J; Herranz, C; Montalar, J; Navarro, J R; Blanes, A; Munarriz, B; Reynés, G; Caballero, M

1981-05-10

395

Periodically Relieving Ischial Sitting Load to Decrease the Risk of Pressure Ulcers  

PubMed Central

Objective To investigate the relieving effect on interface pressure of an alternate sitting protocol involving a sitting posture that reduces ischial support. Design Repeated measures in 2 protocols on 3 groups of subjects. Setting Laboratory. Participants Twenty able-bodied persons, 20 persons with paraplegia, and 20 persons with tetraplegia. Interventions Two 1-hour protocols were used: alternate and normal plus pushup. In the alternate protocol, sitting posture was alternated every 10 minutes between normal (sitting upright with ischial support) and with partially removed ischial support (WO-BPS) postures; in the normal plus pushup protocol, sitting was in normal posture with pushups (lifting the subject off the seat) performed every 20 minutes. Main Outcome Measure Interface pressure on seat and backrest. Results In WO-BPS posture, the concentrated interface pressure observed around the ischia in normal posture was significantly repositioned to the thighs. By cyclically repositioning the interface pressure, the alternate protocol was superior to the normal plus pushup protocol in terms of a significantly lower average interface pressure over the buttocks. Conclusions A sitting protocol periodically reducing the ischial support helps lower the sitting load on the buttocks, especially the area close to ischial tuberosities.

Makhsous, Mohsen; Rowles, Diane M.; Rymer, William Z.; Bankard, James; Nam, Ellis K.; Chen, David; Lin, Fang

2010-01-01

396

Rare causes of dystonia parkinsonism.  

PubMed

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

2010-11-01

397

Improvisations in classic and modified techniques of flap surgery to improve the success rate for pressure ulcer healing in patients with spinal cord injury.  

PubMed

The recurrence of pressure ulcers (PrUs) and dehiscence of reconstructive flap have always been a problem. The present study aimed to evaluate the results of reconstructive flap surgeries in patients with spinal cord injury (SCI) having PrUs, using classic and modified flaps with improvisations to decrease wound dehiscence, flap necrosis and tension in flap. This is a prospective clinical study. The setting was a tertiary care centre in northern India. Thirty-five patients with SCI having 37 stage III and IV PrUs. PrUs were treated using classic and modified flaps with improvisations. The outcome was evaluated using criteria of wound dehiscence, flap necrosis and recurrence. The results of flap surgery were excellent in 32 (86·48%) patients, good in 4 (10·81%) patients and poor in 1 (2·7%) patient. Partial flap necrosis (2·7%), low incidence of PrU recurrence rate at flap site (5·4%) and overall PrU recurrence (11·4%) were the complications observed. Improvisation of classic and modified techniques of flap surgeries along with reinforcement of general care principles of paraplegia can be effective in minimising complications often associated with PrU reconstructive surgery thus improving the ultimate outcome. PMID:22697785

Singh, Roop; Singh, Raghubir; Rohilla, Rajesh K; Magu, Narender K; Goel, Rakesh; Kaur, Kiranpreet

2013-08-01

398

The risks of celiac artery coverage during endoluminal repair of thoracic and thoracoabdominal aortic aneurysms.  

PubMed

The risks of purposeful celiac artery coverage during endovascular thoracic aortic aneurysm repair (TEVAR) to obtain an adequate distal landing zone have received scant scientific attention. Patients undergoing TEVAR at 6 tertiary centers from January 2000 to June 2007 were identified (n = 434); cases requiring celiac artery exclusion (n = 19; 4.4% of the total) were analyzed. The mean follow-up was 8.7 months (range, 0.2-21.2). The mean patients' age was 73.6 years (range, 56-86); 57.9% were men. The mean aneurysm diameter was 6.7 cm (range, 5-8.6). In 2 patients, the celiac artery balloon occlusion test was performed prior to TEVAR. In both, intact collateral foregut circulation was seen. Both underwent TEVAR without celiac artery revascularization; 1 did well, whereas the other developed foregut ischemia. In 16 cases (84.2%), the celiac artery was not revascularized prior to TEVAR. In those patients, 19 complications were reported (3 deaths; 2 paraplegia). No similar events occurred in those who underwent celiac artery revascularization (n = 3). Celiac artery coverage during TEVAR is required in 4.4% of cases. TEVAR correlated with a nonnegligible number of major complications. Complications were more frequent and severe in patients who did not have celiac artery revascularization prior to TEVAR. Specific celiac artery coverage complications are rare and not readily predictable based on preprocedure arteriography. PMID:18996912

Leon, Luis R; Mills, Joseph L; Jordan, William; Morasch, Mark M; Kovacs, Margaret; Becker, Gary J; Arslan, Bulent

2009-01-01

399

[Variations in the origin of the artery of Adamkiewicz].  

PubMed

Variations of the origin of the medullary artery. The purpose of this study was to define the origin of the medullary artery through medullary angiography in order to prevent paraplegia during surgery of the thoraco-abdominal aorta. Twenty-eight patients, candidate to thoracoabdominal aorta operations, have been studied for the study of the origin of the medullary artery and its eventual reimplantation during surgery. The artery has been localized in 24 of the 28 patients. In 22 cases (78.6%) it originated from an intercostal artery between D8 and D12, while in 6 cases (21.4%) it originated from a lumbar artery between L1 and L2. In 23 (82.1%) cases it originated from the left side, while only in 5 (17.9) from the right side. Although medullary artery originates more frequently at the thoracic level, particularly from the left D9 and D10, its variability is important, and its localization before thoraco-abdominal aortic surgery is often desirable. PMID:9213844

Illuminati, G; Koskas, F; Bertagni, A; Caliò, F G; Bahnini, A; Vietri, F; Kieffer, E

1996-01-01

400

Protrudin serves as an adaptor molecule that connects KIF5 and its cargoes in vesicular transport during process formation  

PubMed Central

Neurons are highly polarized cells with long neurites. Vesicular transport is required for neurite extension. We recently identified protrudin as a key regulator of vesicular transport during neurite extension. Expression of protrudin in nonneuronal cells thus induces formation of neurite-like membrane protrusions. We adopted a proteomics approach to identify proteins that associate with protrudin. Among the protrudin-associated proteins, including many with a function related to intracellular trafficking, we focused on KIF5, a motor protein that mediates anterograde vesicular transport in neurons. A coimmunoprecipitation assay confirmed that endogenous protrudin and KIF5 interact in mouse brain. Overexpression of KIF5 induced the formation of membrane protrusions in HeLa cells, reminiscent of the effect of protrudin overexpression. Forced expression of both protrudin and KIF5 promoted protrusion extension in a synergistic manner, whereas depletion of either protein attenuated protrusion formation. Protrudin facilitated the interaction of KIF5 with Rab11, VAP-A and -B, Surf4, and RTN3, suggesting that protrudin serves as an adaptor protein and that the protrudin–KIF5 complex contributes to the transport of these proteins in neurons. Given that mutation of protrudin or KIF5 is a cause of human hereditary spastic paraplegia, the protrudin–KIF5 axis appears to be integral to neuronal function.

Matsuzaki, Fumiko; Shirane, Michiko; Matsumoto, Masaki; Nakayama, Keiichi I.

2011-01-01

401

Clinical mitochondrial genetics  

PubMed Central

The last decade has been an age of enlightenment as far as mitochondrial pathology is concerned. Well established nuclear genetic diseases, such as Friedreich's ataxia,12 Wilson disease,3 and autosomal recessive hereditary spastic paraplegia,4 have been shown to have a mitochondrial basis, and we are just starting to unravel the complex nuclear genetic disorders which directly cause mitochondrial dysfunction (table 1). However, in addition to the 3 billion base pair nuclear genome, each human cell typically contains thousands of copies of a small, 16.5 kb circular molecule of double stranded DNA (fig 1). Mitochondrial DNA (mtDNA) accounts for only 1% of the total cellular nucleic acid content. It encodes for 13 polypeptides which are essential for aerobic metabolism and defects of the mitochondrial genome are an important cause of human disease.9293 Since the characterisation of the first pathogenic mtDNA defects in 1988,513 over 50 point mutations and well over 100 rearrangements of the mitochondrial genome have been associated with human disease9495 (http://www.gen.emory.edu/mitomap.html). These disorders form the focus of this article.???Keywords: mitochondrial DNA; mitochondrial disease; heteroplasmy; genetic counselling

Chinnery, P.; Howell, N.; Andrews, R.; Turnbull, D.

1999-01-01

402

AAV2 mediated retrograde transduction of corticospinal motor neurons reveals initial and selective apical dendrite degeneration in ALS  

PubMed Central

Corticospinal motor neurons (CSMN) are the cortical component of motor neuron circuitry, which controls voluntary movement and degenerates in diseases such as amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. By using dual labeling combined with molecular marker analysis, we identified AAV2-2 mediated retrograde transduction as an effective approach to selectively target CSMN without affecting other neuron populations both in wild-type and hSOD1G93A transgenic ALS mice. This approach reveals very precise details of cytoarchitectural defects within vulnerable neurons in vivo. We report that CSMN vulnerability is marked by selective degeneration of apical dendrites especially in layer II/III of the hSOD1G93A mouse motor cortex, where cortical input to CSMN function is vastly modulated. While our findings confirm the presence of astrogliosis and microglia activation, they do not lend support to their direct role for the initiation of CSMN vulnerability. This study enables development of targeted gene replacement strategies to CSMN in the cerebral cortex, and reveals CSMN cortical modulation defects as a potential cause of neuronal vulnerability in ALS.

Jara, Javier H.; Villa, Stephanie R.; Khan, Nabil A.; Bohn, Martha C.; Ozdinler, P. Hande

2014-01-01

403

[Extension injury of th-L spine (case history).].  

PubMed

Out of 160 injuries of Th-L spine operated on only two were of extension type. In the first case it was a pure posterior displacement of L 1-2into extension with the angle of lordotization 20 degrees and complete paraplegia. From the viewpoint of classification this injury may be included in group B 3.3 according to AO/ASIF classification. With regard to an extreme post-injury displacement which at first glance is similar to the "seatbelt fracture" after Denis classification we would suggest to call this injury "reverse seat-belt fracture". The treatment consisted in the reduction and monosegmental instrumentation. The neurological deficit is permanent. The second case was a fracture of extension type in a patient with ankylosing spondylitis (morbus Bechterev). The patient was treated by monosegmental instrumentation. The initial incomplete neurological deficit improved in the course of several weeks (Frankel D). With regard to the fact that the fracture line was passing anteriorly through the vertebral body, this injury cannot be clasified according to AO/ASIF classification. Extension injuries are rare injuries and with regard to their low frequency of incidence the classification schemes more or less neglect them. Key words: Th-L spine, injuries, extension injury, classification. PMID:20492806

Krbec, M; Stulík, J

1998-01-01

404

The thoracic anterior spinal cord adhesion syndrome  

PubMed Central

Objectives This study included a series of middle-aged male and female patients who presented with chronic anterior hemicord dysfunction progressing to paraplegia. Imaging of anterior thoracic cord displacement by either a dural adhesion or a dural defect with associated cord herniation is presented. Methods This is a retrospective review of cases referred to a tertiary neuroscience centre over a 19-year period. Imaging series were classified by two experienced neuroradiologists against several criteria and correlated with clinical examination and/or findings at surgery. Results 16 cases were available for full review. Nine were considered to represent adhesions (four confirmed surgically) and four to represent true herniation (three confirmed surgically). In the three remaining cases the diagnosis was radiologically uncertain. Conclusion The authors propose “thoracic anterior spinal cord adhesion syndrome” as a novel term to describe this patient cohort and suggest appropriate clinicoradiological features for diagnosis. Several possible aetiologies are also suggested, with disc rupture and inflammation followed by disc resorption and dural pocket formation being a possible mechanism predisposing to herniation at the extreme end of a clinicopathological spectrum.

Taylor, T R; Dineen, R; White, B; Jaspan, T

2012-01-01

405

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

2011-01-01

406

Percutaneous tracheostomy in patients with cervical spine fractures--feasible and safe.  

PubMed

The aim of this study is to evaluate the short and long-term results of percutaneous tracheostomy in patients with documented cervical spine fracture. Between June 2000 and September 2005, 38 consecutive percutaneous tracheostomy procedures were performed on multi-trauma patients with cervical spine fracture. Modified Griggs technique was employed at the bedside in the general intensive care department. Staff thoracic surgeons and anesthesiologists performed all procedures. Demographics, anatomical conditions, presence of co-morbidities and complication rates were recorded. The average operative time was 10 min (6-15). Two patients had minor complications. One patients had minor bleeding (50 cc) and one had mild cellulitis. Nine patients had severe paraparesis or paraplegia prior to the PCT procedure and 29 were without neurological damage. There was no PCT related neurological deterioration. Twenty-eight patients were discharged from the hospital, 21 were decannulated. The average follow-up period was 18 months (1-48). There was no delayed, procedure related, complication. These results demonstrate that percutaneous tracheostomy is feasible and safe in patients with cervical spine fracture with minimal short and long-term morbidity. We believe that percutaneous tracheostomy is the procedure of choice for patients with cervical spine fracture who need prolonged ventilatory support. PMID:17670607

Ben Nun, Alon; Orlovsky, Michael; Best, Lael Anson

2006-08-01

407

Musculoskeletal Deterioration and Hemicorporectomy After Spinal Cord Injury  

PubMed Central

Background and Purpose The long-term management following an hemicorporectomy (HCP) is not well documented in the scientific literature. The purpose of this case report is to describe the 25-year history of a man with a spinal cord injury who experienced severe musculoskeletal deterioration and hemicorporectomy. Case Description The client sustained T10 complete paraplegia at age 18 years, developed severe decubitus ulcers, and required an HCP as a lifesaving measure 13 years later. The authors describe the chronology of several rehabilitation and prosthetic strategies and speculate on factors that may have contributed to their successes and failures. Outcomes The client survived 12 years after the HCP and returned to independent mobility, self-care, and schooling despite complications with continued skin breakdown. Over the 12 years following discharge from the hospital after the spinal cord injury, he spent 749 days in the hospital. During the 12 years he lived after discharge from the hospital following the HCP, he was hospitalized 190 days. Discussion The authors discuss factors contributing to the client’s musculoskeletal deterioration including chronic wounds, postural deviations, and incomplete adherence to pressure-relief recommendations and raise considerations for physical therapists who treat patients after HCP.

Dudley-Javoroski, Shauna

2014-01-01

408

The role of spartin and its novel ubiquitin binding region in DALIS occurrence  

PubMed Central

Troyer syndrome is an autosomal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene that results in a lack of expression of the truncated protein. Spartin is a multifunctional protein, yet only two conserved domains—a microtubule-interacting and trafficking domain and a plant-related senescence domain involved in cytokinesis and mitochondrial physiology, respectively—have been defined. We have shown that overexpressed spartin binds to the Ile44 hydrophobic pocket of ubiquitin, suggesting spartin might contain a ubiquitin-binding domain. In the present study, we demonstrate that spartin contributes to the formation of dendritic aggresome-like induced structures (DALIS) through a unique ubiquitin-binding region (UBR). Using short hairpin RNA, we knocked down spartin in RAW264.7 cells and found that DALIS frequency decreased; conversely, overexpression of spartin increased the percentage of cells containing DALIS. Using nuclear magnetic resonance spectroscopy, we characterized spartin's UBR and defined the UBR's amino acids that are key for ubiquitin binding. We also found that spartin, via the UBR, binds Lys-63–linked ubiquitin chains but does not bind Lys-48–linked ubiquitin chains. Finally, we demonstrate that spartin's role in DALIS formation depends on key residues within its UBR.

Karlsson, Amelia B.; Washington, Jacqueline; Dimitrova, Valentina; Hooper, Christopher; Shekhtman, Alexander; Bakowska, Joanna C.

2014-01-01

409

Apoptosis and expression of Bcl-2 after compression trauma to rat spinal cord.  

PubMed

We have evaluated by in situ nick-end labeling the presence of apoptotic cells in the spinal cord of rats with compression injury at the level of Th8-9 of mild, moderate, and severe degrees resulting in no neurologic deficit, reversible paraparesis, and paraplegia, respectively. Rats with compression injury surviving 4 or 9 days showed apoptotic glial cells in the longitudinal tracts of the Th8-9, the cranial Th7, and the caudal Th10 segments. The apoptotic cells were most frequently observed in Th7. They did not express glial fibrillar acidic protein (GFAP) and their morphology was compatible with that of oligodendrocytes. Neurons of the gray matter did not present signs of apoptosis. In addition, we studied the immunohistochemical expression of Bcl-2, an endogenous inhibitor of apoptosis. Compression induced Bcl-2 immunoreactivity in axons of the long tracts, particularly after moderate and severe compression and 1-day survival. Neurons of dorsal root ganglia were immunoreactive but the neurons of the spinal cord were unstained. The accumulation, presumably caused by arrested axonal transport in sensory pathways, was absent in rats surviving 9 days. In conclusion, compression trauma to rat spinal cord induces signs of apoptosis in glial cells, presumably oligodendrocytes of the long tracts. This may induce delayed myelin degeneration after trauma to the spinal cord. Bcl-2 does not seem to be upregulated in oligodendrocytes. PMID:8786386

Li, G L; Brodin, G; Farooque, M; Funa, K; Holtz, A; Wang, W L; Olsson, Y

1996-03-01

410

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

2012-01-01

411

Intermittent self catheterization for patients with urinary incontinence or difficulty emptying the bladder.  

PubMed Central

Urinary incontinence, difficulty voiding and recurrent urinary tract infections are common in general practice. In patients with multiple sclerosis, spina bifida, intervertebral disc lesions, spinal injuries or tumours, the symptoms may be associated with a high residual volume of urine owing to a neuropathic bladder. Similar complaints may occur in elderly people or in women with gynaecological problems owing to atonic urinary retention. Provided that a significant residual volume of urine is found on abdominal examination, ultrasound, x-ray or catheterization, both groups of patients may be helped by intermittent self catheterization. Intermittent self catheterization is a safe and simple technique. By catheterizing themselves between four and six times daily patients can gain control over their bladders. Abandoning indwelling catheters or bulky external appliances does much for a patient's morale and self esteem. In addition, since the bladder is being drained effectively, urinary tract infections cease to be a problem and the kidneys are safeguarded. Severe disability is not a contraindication since patients in wheelchairs have mastered the technique despite paraplegia, an anaesthetic perineum, spinal deformity, intention tremor, mental handicap, old age or blindness. Patients should be referred to urologists for a trial of intermittent self catheterization. If unsuccessful or unacceptable it can be abandoned with no long term consequences. If it is effective the benefits may be considerable.

Oakeshott, P; Hunt, G M

1992-01-01

412

Effects of disodium dichloromethylene diphosphonate on hypercalcemia produced by bone metastases.  

PubMed Central

The aim of this study was to determine the ability of disodium dichloromethylene diphosphonate (Cl2MDP) to reduce the hypercalcemia secondary to skeletal metastases and induced by stimulation of bone resorption by malignant cells. Five patients with hypercalcemia due to bone metastases of breast or renal cancer were treated orally for 4 wk with 3,200 mg of Cl2MDP and 4 wk with a placebo in a double blind, crossover study. During the Cl2MDP period of administration four patients experienced a rapid and significant decrease in serum calcium and urinary calcium excretion together with an increase in alkaline phosphatase. In the remaining patient who developed a sudden paraplegia at the onset of the therapy followed by a marked increase in serum calcium levels and urinary calcium excretion, Cl2MDP was able to reverse this worsening of hypercalcemia or to reduce serum and urinary calcium to normal values. For all patients, urinary hydroxyproline excretion was unchanged during the Cl2MDP period when compared with the prestudy or placebo periods. From these results, and because of the rapid relapse of hypercalcemia during the placebo period or after withdrawal of the treatment, we can conclude that Cl2MDP is capable of reducing excessive mobilization of calcium resulting from bone metastases.

Chapuy, M C; Meunier, P J; Alexandre, C M; Vignon, E P

1980-01-01

413

Surgical Treatment of Aortobronchial and Aortoesophageal Fistulae due to Thoracic Aortic Aneurysm  

PubMed Central

We present a review of our single-institution experience, over 19 years, with aortobronchial and aortoesophageal fistulae due to descending thoracic aortic aneurysm. We conducted a retrospective chart review of 10 cases involving surgery for aortobronchial and aortoesophageal fistulae in our clinic from February 1985 through October 2004. Pathologic or predisposing conditions associated with aortobronchial fistula were descending thoracic aortic aneurysm (n = 8), previous aortic surgery (n = 1), and concomitant aortoesophageal fistula (n = 1). Three patients presented emergently with aortobronchial fistula (n = 2) and aortoesophageal fistula (n = 1). Ages of the 10 patients ranged from 42 to 74 years (median, 63 years). The median cross-clamp time was 34 minutes (range, 27–41 min). Repairs, in 9 patients, involved an inlay of prosthetic tube graft using the clamp-and-sew technique, and in 1 patient repair involved patch aortoplasty. The operative mortality rate was 20%: 1 patient had acute concomitant aortoesophageal and aortobronchial fistulae, and another had chronic aortobronchial fistula. There was no embolic stroke or paraplegia. During follow-up (median, 2.5 years), there were no deaths or postoperative morbidity. We conclude that repair of aortobronchial and aortoesophageal fistulae using the clamp-and-sew technique can be performed with acceptable operative mortality and long-term results. However, the mortality rate continues to be highly significant in patients with acute bleeding aortobronchial fistula or with aortoesophageal fistula, despite rapid surgical intervention.

Eren, Ercan; Keles, Cuneyt; Toker, Mehmet Erdem; Ersahin, Suat; Erentug, Vedat; Guler, Mustafa; Ipek, Gokhan; Akinci, Esat; Balkanay, Mehmet; Yakut, Cevat

2005-01-01

414

Effect of Locomotor Training on Motor Recovery and Walking Ability in Patients with Incomplete Spinal Cord Injury: A Case Series  

PubMed Central

[Purpose] The aim of this study was to describe the effect of locomotor training on a treadmill for three individuals who have an incomplete spinal cord injury (SCI). [Subjects and Methods] Three indivduals (2 males, 1 female) with incomplete paraplegia participated in this prospective case series. All subjects participated in locomotor training for a maximum of 20 minutes on a motorized treadmill without elevation at a comfortable walking speed three days a week for four weeks as an adjunct to a conventional physiotherapy program. The lower extremity strength and walking capabilities were used as the outcome measures of this study. Lower extremity strength was measured by lower extremity motor score (LEMS). Walking capability was assessed using the Walking Index for Spinal Cord Injury (WISCI II). [Results] An increase in lower extremity motor score and walking capabilities at the end of training program was found. [Conclusion] Gait training on a treadmill can enhance motor recovery and walking capabilities in subjects with incomplete SCI. Further research is needed to generalize these findings and to identify which patients might benefit from locomotor training.

Anwer, Shahnawaz; Equebal, Ameed; Palekar, Tushar J; Nezamuddin, M; Neyaz, Osama; Alghadir, Ahmad

2014-01-01

415

Single-stage repair of adult aortic coarctation and concomitant cardiovascular pathologies: a new alternative surgical approach  

PubMed Central

Background Coarctation of the aorta in the adulthood is sometimes associated with additional cardiovascular pathologies that require intervention. Ideal approach in such patients is uncertain. Anatomic left-sided short aortic bypass from the arcus aorta to descending aorta via median sternotomy allows simultaneuos repair of both complex aortic coarctation and concomitant cardiac operation. Materials Four adult patients were underwent Anatomic left-sided short aortic bypass operation for complex aortic coarctation through median sternotomy using deep hypothermic circulatory arrest. Concomitant cardiac operations were Bentall procedure for annuloaortic ectasia in one patient, coronary artery bypass grafting for three vessel disease in two patient, and patch closure of ventricular septal defect in one patient. Results All patients survived the operation and were alive with patent bypass at a mean follow-up of 36 months. No graft-related complications occurred, and there were no instances of stroke or paraplegia. Conclusion We conclude that single-stage repair of adult aortic coarctation with concomitant cardiovascular lesions can be performed safely using this newest technique.

Yilmaz, Mert; Polat, Bulent; Saba, Davit

2006-01-01

416

Combination of the AO-Magerl and load-sharing classifications for the management of thoracolumbar burst fractures.  

PubMed

The AO-Magerl classification is widely accepted for the appropriate management of patients with thoracolumbar burst fractures; however, it fails to assess the ability of the injured spine to withstand compressive loading and cannot predict instrumentation failure after short-segment posterior fixation. The load-sharing classification depends on the degree of comminution and apposition of bony fragments.We retrospectively classified according to both classifications 100 consecutive patients with 1-level thoracolumbar burst fractures treated nonoperatively or operatively within a 7-year period. Sixty neurologically intact patients (60%) were treated nonoperatively, 15 (15%) had short posterior instrumentation, 15 (15%) had short anterior instrumentation, and 10 (10%) had combined short posterior instrumentation and anterior strut grafting. Twenty-five of the 40 (60%) surgically treated patients had neurological impairment on admission. Clinical outcome was assessed using a pain and working ability scale. Mean follow-up was 52 months (range, 24-70 months). Function was satisfactory in 55 (92%) nonoperatively treated patients and in 33 (83%) surgically treated patients. Neurological improvement by American Spinal Injury Association (ASIA) grade was observed in patients with incomplete paraplegia (70% of neurologically impaired patients) who were treated operatively.The combination of AO-Magerl and load-sharing classifications provides for accurate selection of treatment, surgical approach, and length of instrumentation, and can guide the decision for additional anterior surgery. PMID:20349867

Katonis, Pavlos; Pasku, Dritan; Alpantaki, Kalliopi; Mavrogenis, Andreas F; Korres, Demetrios S; Sapkas, George S; Papagelopoulos, Panayiotis J

2010-03-01

417

Septic shock with tension fecothorax as a delayed presentation of a gunshot diaphragmatic rupture.  

PubMed

Diaphragmatic rupture (DR) after thoracoabdominal trauma has a reported rate of 0.8% to 5% and up to 30% of diaphragmatic hernias are accompanied with delayed diagnosis. The DR occurs after high-energy blunt or penetrating (stab or gunshot wounds) trauma. The purpose of this article is to analyze the DR, its clinical presentation, complications and possible causes of the delay in diagnosis, whilst recording a rare interesting case. A 44-year old moribund male with a fifteen years history of paraplegia, came to the emergency department with a clinical presentation of extremely severe respiratory distress. Chest X-ray showed the colon present in the left hemithorax. The onset of symptoms was 48 hours before, resulting in hemodynamic instability and severe sepsis condition. Emergency left thoracotomy and laparotomy were carried out. A rupture of the left hemidiaphragm was found as well as intrathoracic presence of colon, incarcerated and perforated, feces and omentum, also incarcerated and necrotic. There were dense adhesions between the ectopic viscera and the thoracic structures. The necrotic parts of the colon and the omentum were mobilized, and then resected. The viable parts of the colon were laboriously reintroduced into the intraperitoneal cavity. We conclude that early diagnosis is crucial to the morbidity and mortality after DR. The course and the kinetic energy of bullets determine the extent of the wound and the size of the DR. The diagnosis of rupture of the diaphragm after penetrating trauma is sometimes difficult and delay can lead to life threatening complications. PMID:24255791

Chatzoulis, George; Papachristos, Ioannis C; Daliakopoulos, Stavros I; Chatzoulis, Kostas; Lampridis, Savvas; Svarnas, Grigorios; Katsiadramis, Ioannis

2013-10-01

418

An Unusually Long Survival of A Patient with Glioblastoma of Spinal Cord: A Case Report  

PubMed Central

Primary glioblastoma of spinal cord are rare and are associated with poor survival especially in adults. We report a case of glioblastoma of thoracic spinal cord (D3 to D6) in an adult treated with partial resection surgery and radiation therapy with a survival of six years with good quality of life. The patient had paraplegia at presentation but improved after surgery and radiation therapy to grade 4 in both lower limbs. After 5 years, he developed new lesion in a different location of the spine (L1, L2 & L5) along with multiple lesions over entire spine and was treated with radiation therapy and a year later developed a new lesion intracranially in the posterior fossa involving cerebellopontine angle region infiltrating brainstem. He was treated with palliative radiotherapy and is on chemotherapy with Temozolomide and is still alive with ability to do activities of daily living at the time of this report. Radiation therapy provided prolonged local control with effective palliation of symptoms and good quality of life in this patient enabling to do activities of daily living.

Varghese, Sunitha Susan; Joseph, Vivek; Chacko, Geeta; Backianathan, Selvamani

2014-01-01

419

Retrograde labeling, transduction, and genetic targeting allow cellular analysis of corticospinal motor neurons: implications in health and disease  

PubMed Central

Corticospinal motor neurons (CSMN) have a unique ability to receive, integrate, translate, and transmit the cerebral cortex's input toward spinal cord targets and therefore act as a “spokesperson” for the initiation and modulation of voluntary movements that require cortical input. CSMN degeneration has an immense impact on motor neuron circuitry and is one of the underlying causes of numerous neurodegenerative diseases, such as primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and amyotrophic lateral sclerosis (ALS). In addition, CSMN death results in long-term paralysis in spinal cord injury patients. Detailed cellular analyses are crucial to gain a better understanding of the pathologies underlying CSMN degeneration. However, visualizing and identifying these vulnerable neuron populations in the complex and heterogeneous environment of the cerebral cortex have proved challenging. Here, we will review recent developments and current applications of novel strategies that reveal the cellular and molecular basis of CSMN health and vulnerability. Such studies hold promise for building long-term effective treatment solutions in the near future.

Jara, Javier H.; Genc, Bar?s; Klessner, Jodi L.; Ozdinler, P. Hande

2014-01-01

420

CFS transferrin in various neurological diseases.  

PubMed

The introduction of isoelectrofocusing on polyacrylamide gel followed by direct immunofixation, in the analysis of CSF proteins, emphasized the interest in transferrin examination, mainly in order to find eventual abnormalities in patients with neurological diseases. Stibler (1979), using these techniques, demonstrated the presence in CSF of two subtypes of transferrin C, called C1 and C2, transmitted by autosomal codominant inheritance, according to the C1, C2 and C2-1 phenotypes. The rather frequently occurring variant of transferrin in CSF is the C2-1 subtype: a double banded pattern, which is focused at pH 5.9, consisting of two very closely spaced bands with a pI difference of less than 0.1. This transferrin pattern is peculiar to CSF and is absent in the serum of the same subjects. This subtype of transferrin has been observed in various neurological disorders, as well as in healthy populations, by several investigators. They also found a much higher incidence of double tau-transferrin in inherited degenerative neurological diseases, such as Friedreich's ataxia and hereditary spastic paraplegia, than in neurological ailments without a hereditary component. The aim of our study is to verify the incidence of the C2-1 variant of transferrin in a control group and in a mixed group of neurological patients, with particular attention to hereditary degenerative pathologies. PMID:7188234

Merelli, E; Sola, P; Faglioni, P; Pavarotti, V

1982-01-01