Reply to Drug Insight: antioxidant therapy in inherited ataxias
نویسندگان
چکیده
منابع مشابه
Dominantly inherited ataxias in Portugal.
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 کاملThiamine 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...
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...
متن کاملThe inherited ataxias and the new genetics.
The powerful new tools of genetic investigation are steadily expanding our understanding of the molecular basis of inherited neurological disease. This is particularly so in the context of the inherited ataxias, in which nosological difficulties are beginning to be resolved by a genetically based classification. Harnessing the new knowledge will bring further rewards, including molecular geneti...
متن کاملExome sequencing in undiagnosed inherited and sporadic ataxias
Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic, inherited and metabolic causes, we used an unbiased whole exome sequencing approach in 35 affected individuals, from 22 randomly selected families of white European descent. We defined the likely molecular diagnosis in 14 of 22 families (64...
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ژورنال
عنوان ژورنال: Nature Clinical Practice Neurology
سال: 2008
ISSN: 1745-834X,1745-8358
DOI: 10.1038/ncpneuro0833