The molecular genetics of the spinocerebellar ataxias

Abstract

The spinocerebellar ataxias (SCA) are a group of autosomal dominantly inherited ataxias that are clinically characterised by progressive ataxia. Until now, 13 genetically distinct SCA subtypes have been identified. In 5 of these disorders (SCA1, SCA2, SCA3, SCA6, SCA7), the mutation is a translated, expanded CAG repeat. SCA8 is caused by a CTG expansion in… (More)

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