نتایج جستجو برای: idiopathic ataxia
تعداد نتایج: 80629 فیلتر نتایج به سال:
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder mapped on chromosome 12. Different results have been reported in spinocerebellar ataxias following transcranial magnetic stimulation (TMS). TMS-induced cortical silent period (CSP) was prolonged in different cerebellar disorders. Here we evaluate the duration of the TMS-induced CSP following a single magnet...
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation is so far unknown which impairs both genetic diagnosis and appropriate family counseling. We report detailed clinical, electrophysiological, neuroi...
Purpose. Evaluate the diagnostic significance of quantitative determination T- and B-cell receptor DNA ring fragments in peripheral blood patients for diagnosis ataxia-teleangiectasia. Materials methods. The subjects study were samples from 14 diagnosed with ataxia-teleangiectasia aged 4.9 (1.6; 14.4) years mutations ATM gene 40 healthy children 11.0 (6.7; 14.8) years. Results discussion. Patie...
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Introduction. Friedreich?s ataxia (FA) is an autosomal recessive neurodegenerative disease. Ataxia, as the cardinal symptom, affects trunk, with swaying, imbalance, and falls, well limbs, increasing difficulty in activities of daily living. Physical therapy has been recognized a means managing physical symptoms maximizing function affected persons. To our knowledge, there are no studies that ha...
Introduction: Purkinje Cell (PC) output displays a complex firing pattern consisting of high frequency sodium spikes and low frequency calcium spikes, and disruption in this firing behavior may contribute to cerebellar ataxia. Riluzole, neuroprotective agent, has been demonstrated to have neuroprotective effects in cerebellar ataxia. Here, the spectral analysis of PCs firing in control, 3-acety...
Background: Multiple Sclerosis (MS) is a demyelinating disorder of the central nervous system. Tremors are a common problem in the patients suffering from MS which is mostly observed in the arms but can also affect the other body parts. There have been few studies on tremors among the MS patients. Objectives: This study is the first to report the prevalence of tremor in a group of MS pat...
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features patients resemble those telangiectasia (AT), slower progression milder presentation. Main symptom...
Hereditary haemochromatosis (HH) is a genetic disorder in which abnormal iron handling leads to excessive iron accumulation in systemic tissues. Magnetic resonance imaging studies suggest excess iron deposition in the basal ganglia of patients with HH. The symptoms of neurological complications of HH include cognitive decline, gait difficulties, cerebellar ataxia, and extrapyramidal dysfunction...
BACKGROUND The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, an...
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