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Translated (CAG)n repeat expansions are responsible for five autosomal dominant cerebellar ataxias1 (ADCA). Recently Koob et al.2 described an untranslated (CTG)n repeat expansion in the spinocerebellar ataxia 8 (SCA8) gene in patients with ADCA or recessive cerebellar ataxia.

Are (CTG)n expansions at the SCA8 locus rare polymorphisms?