2008
DOI: 10.1590/s0004-282x2008000500015 View full text |Buy / Rent full text
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Abstract: -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.Key WordS: spinoc… Show more

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“…Many patients have intense episodes of vertigo before the onset of ataxia, while in others there are intermittent episodes of ataxia (corresponding to episodic ataxia type 2) in parallel with the signs and symptoms of slowly progressive cerebellar ataxia 3,4,47 .…”
Section: Scamentioning
“…Generally, SCA 6 evolves slowly and progressively, with the clinical picture first appearing around 50 years of age 3,4,47 .…”
Section: Scamentioning
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