Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

Tohru Matsuura; Madhureeta Achari; Mehrdad Khajavi; Linda L. Bachinski; Huda Y. Zoghbi; Tetsuo Ashizawa

doi:10.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

Tohru Matsuura, Madhureeta Achari, Mehrdad Khajavi, Linda L. Bachinski, Huda Y. Zoghbi, Tetsuo Ashizawa

Research output: Contribution to journal › Article

78 Scopus citations

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 Θ = 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 D22Sl177 and D22S1160.

Original language	English (US)
Pages (from-to)	407-411
Number of pages	5
Journal	Annals of Neurology
Volume	45
Issue number	3
DOIs	https://doi.org/10.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D
State	Published - Mar 18 1999

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1002/1531-8249(199903)45:3<407::AID-ANA21>3.0.CO;2-D

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title = "Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy",

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 Θ = 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 D22Sl177 and D22S1160.",

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AU - Matsuura, Tohru

AU - Achari, Madhureeta

AU - Khajavi, Mehrdad

AU - Bachinski, Linda L.

AU - Zoghbi, Huda Y.

AU - Ashizawa, Tetsuo

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