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  • Title: Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.
    Author: Matsuura T, Achari M, Khajavi M, Bachinski LL, Zoghbi HY, Ashizawa T.
    Journal: Ann Neurol; 1999 Mar; 45(3):407-11. PubMed ID: 10072060.
    Abstract:
    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 makers in 22q13-qter. Haplotype analysis of the crossover events and the multipoint linkage mapping localized the disease locus to an 8.8-cM region between D22S1177 and D22S1160.
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