Article
Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.
Annals of neurology - 1 Mar 1999
Matsuura T, Achari M, Khajavi M, Bachinski L L, Zoghbi H Y, Ashizawa T
Abstract excerpt
We investigated a family with a new type of autosomal dominant cerebellar ataxia (ADCA) in which pure cerebellar ataxia is often accompanied with epilepsy. No CAG repeat expansions were detected at the spinocerebellar ataxia (SCA) type 1, 2, 3, 6, or 7 locus, and SCAs 4 and 5 were excluded by linkage analysis. We found linkage between the disease locus and D22S274 (Zmax = 3.86 at theta = 0.00) and two other...
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