Article
Phenotype variation correlates with CAG repeat length in SCA2--a study of 28 Japanese patients.
Journal of the neurological sciences - 14 Aug 1998
Sasaki H, Wakisaka A, Sanpei K, Takano H, Igarashi S, Ikeuchi T, Iwabuchi K, Fukazawa T, Hamada T, Yuasa T, Tsuji S, Tashiro K
Abstract excerpt
Spinocerebellar ataxia-2 (SCA2) is an autosomal dominant ataxia caused by an abnormal CAG repeat expansion in a novel gene on chromosome 12q24.1. The size of the mutant allele is unstable during transmission, and correlates inversely with age at onset. We studied eight Japanese SCA2 families, including 28 patients, to assess the effect of repeat length on the phenotype features of SCA2. Frequencies of slow eye...
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