Article
Identification of five spinocerebellar ataxia type 2 pedigrees in patients with autosomal dominant cerebellar ataxia in Taiwan.
Acta neurologica Scandinavica - 1 Sept 1999
Hsieh M, Li S Y, Tsai C J, Chen Y Y, Liu C S, Chang C Y, Ro L S, Chen D F, Chen S S, Li C
Abstract excerpt
OBJECTIVES: The autosomal dominant cerebellar ataxias (ADCAs) are a group of genetically diverse neurological conditions linked by progressive deterioration in balance and coordination. Spinocerebellar Ataxia Type 2 (SCA2) is one of the ADCAs and also belongs to a special group caused by the expansion of an unstable CAG repeat encoding a polyglutamine tract. We aimed to investigate the frequency of SCA2 mutation...
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