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We report the clinical,neuropathologic,and genetic studies of a large kindred(family M-ADCA1)with autosomal dominant spinocerebellar ataxia type 1(SCA1)ascertained in 41 members,with clinical data available in twenty- two.There was expansion in 19 subjects(10 clinically affected,seven with early signs and symptoms,and two asymptomatic individuals),and all showed heterozygosity,with one allele between 41 and 59 repeats(SAC1 mutation)and the other in the range of 6 to 39 repeats(normal range).The clinical analysis of"at risk"patients with the SCA1 mutation showed that minor signs and symptoms begin before full clinical diagnosis,and these premonitory manifestations can herald full development of SCA1 by users. |
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