A large family with spinocerebellar ataxia type 6 in Iran: a clinical and genetic study.
نویسندگان
چکیده
The authors describe a large Iranian family with autosomal dominant cerebellar ataxia, which included 14 patients in four generations. We examined seven patients who had expanded CAG repeats in the CACNA1A gene with repeat instability (24 and 25 repeats). Although all patients showed cerebellar ataxia, each patient exhibited peripheral neuropathy or spasticity indicating intrafamilial phenotypic variability.
منابع مشابه
Spinocerebellar ataxia type 6.
We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...
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عنوان ژورنال:
- Archives of Iranian medicine
دوره 11 4 شماره
صفحات -
تاریخ انتشار 2008