Spinocerebellar ataxia type 6 in Brazil

Ataxia espinocerebelar tipo 6 no Brasil

Hélio A.G. Teive Renato Puppi Munhoz Salmo Raskin Lineu César Werneck About the authors

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.

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


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