Thiamine status in inherited degenerative ataxias.
نویسندگان
چکیده
منابع مشابه
Thiamine status in inherited degenerative ataxias.
Blood thiamine levels in ataxia patients were studied. No significant differences were found between 30 patients with Friedreich's ataxia and 29 patients with olivopontocerebellar atrophy (OPCA) compared with control subjects. Both OPCA and Friedreich's ataxia patients presented significantly lower cerebrospinal fluid thiamine levels than their controls (p less than 0.001 and p less than 0.04 r...
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We analysed the clinical features of 82 patients with dominantly inherited ataxia in a cohort survey. All patients fulfilled the diagnostic criteria for Machado-Joseph disease. The mean age of onset of symptoms was 39.8 (+/- 12.5) years and the duration of the disease was 9.2 (+/- 6.7) years. Ataxia, peripheral neuropathy, and fasciculation scores correlated with age of onset and duration of di...
متن کاملExtrapyramidal motor signs in degenerative ataxias.
BACKGROUND Extrapyramidal motor signs (EPS) are well-known symptoms of degenerative ataxia. However, little is known about frequency and appearance of EPS in subtypes of ataxia. METHODS We characterized 311 patients with ataxia clinically and genetically. Course of the disease and EPS were investigated according to a standardized protocol. Diagnostic and prognostic impact of EPS in subtypes o...
متن کاملDegenerative Ataxias: challenges in clinical research
The degenerative ataxias are a very heterogeneous group of disorders that include numerous genetic diseases as well as apparently "sporadic" entities. There has been an explosion of discoveries related to genetic defects and related pathomechanisms that has brought us to the threshold of meaningful therapies in some but not all of these diseases. There also continues to be lack of knowledge of ...
متن کاملInherited polyglutamine spinocerebellar ataxias in South Africa.
OBJECTIVE To determine the frequency and distribution of polyglutamine spinocerebellar ataxias (SCAs) from referrals over a 24-year period to the National Health Laboratory Service (NHLS) in South Africa (SA). METHODS Paper-based clinical reports in the University of Cape Town laboratory and the NHLS electronic patient record database spanning a 24-year period were mined for information regar...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1992
ISSN: 0022-3050
DOI: 10.1136/jnnp.55.2.136