4.0 Article

SPINOCEREBELLAR ATAXIA TYPE 6 IN BRAZIL

Journal

ARQUIVOS DE NEURO-PSIQUIATRIA
Volume 66, Issue 3B, Pages 691-694

Publisher

ASSOC ARQUIVOS NEURO- PSIQUIATRIA
DOI: 10.1590/S0004-282X2008000500015

Keywords

spinocerebelar ataxia type 6; autosomal dominant cerebellar ataxia; pure cerebellar ataxia; CACNA1A gene

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Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.

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