Journal of the neurological sciences
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The hereditary spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. The genes causing 11 of these diseases have been identified. To date, there is no report of SCA type 6 (SCA6) in Mainland Chinese. ⋯ Among the 60 patients with sporadic ataxias in the present series, 3 (5.0%) were found to harbor SCA3 mutations, whereas none were found to harbor SCA6 mutations. In the 4 families with SCA6, we found significant anticipation in the absence of genetic instability on transmission. This is the first report of geographic cluster of families with SCA6 subtype in Mainland China.