Channelpedia

PubMed 18949263


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1 , Slo1



Title: Spinocerebellar ataxia type 6 in Brazil.

Authors: Helio A G Teive, Renato Puppi Munhoz, Salmo Raskin, Lineu César Werneck

Journal, date & volume: Arq Neuropsiquiatr, 2008 Sep , 66, 691-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18949263


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.