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Recently, mild CAG repeat expansion in the \u03b1<jats:sub>1A<\/jats:sub> voltage\u2010dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 Japanese families with autosomal dominant SCAs, for whom CAG repeat expansions of the SCA1, SCA2, Machado\u2010Joseph disease\/SCA3, and dentatorubral\u2010pallidoluysian atrophy genes were excluded, and 5 apparently sporadic cases of cortical cerebellar atrophy. The diagnosis of SCA6 was confirmed in 30 families (31%) comprising 47 affected individuals and 1 sporadic case. The size of expanded CAG repeats ranged from 21 to 26 repeat units and was found to be correlated inversely with age at onset. We identified 2 SCA6 patients homozygous for expanded CAG repeats, whose ages at onset were earlier than the 95% lower confidence level, suggesting the presence of a gene dosage effect of expanded CAG repeat. Ataxia is the most common initial symptom found in 45 of the 48 patients. Patients with a prolonged disease course showed other accompanying clinical features including dystonic postures, involuntary movements, and abnormalities in tendon reflexes.<\/jats:p>","DOI":"10.1002\/ana.410420609","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:10:08Z","timestamp":1104592208000},"page":"879-884","source":"Crossref","is-referenced-by-count":108,"title":["Spinocerebellar ataxia type 6: CAG repeat expansion in \u03b1<sub>1a<\/sub> voltage\u2010dependent calcium channel gene and clinical variations in japanese 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