[The phenotype variation correlates with the size of CAG repeat in SCA2].

Abstract excerpt

Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant ataxia caused by abnormal expansion of unstable CAG repeat in a novel gene on chromosome 12q24.1. Size of the CAG repeat correlates inversely with age at onset. The clinical feature of SCA2 is affected with age at onset and duration of the disorder. In addition, not only rate of progression but also frequencies of slow saccade, hyporefiexia, dementia,...

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