Sporadic SCA8 mutation resembling corticobasal degeneration

Yasuhiko Baba; Ryan J. Uitti; Matthew J. Farrer; Zbigniew K. Wszolek

doi:10.1016/j.parkreldis.2004.10.008

Sporadic SCA8 mutation resembling corticobasal degeneration

Yasuhiko Baba, Ryan J. Uitti, Matthew J. Farrer, Zbigniew K. Wszolek

Neurology

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study.

Original language	English (US)
Pages (from-to)	147-150
Number of pages	4
Journal	Parkinsonism and Related Disorders
Volume	11
Issue number	3
DOIs	https://doi.org/10.1016/j.parkreldis.2004.10.008
State	Published - May 2005

Keywords

Clinical presentation
Corticobasal degeneration
Spinocerebellar ataxia type 8
Sporadic

ASJC Scopus subject areas

Neurology
Geriatrics and Gerontology
Clinical Neurology

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10.1016/j.parkreldis.2004.10.008

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abstract = "Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study.",

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AU - Baba, Yasuhiko

AU - Uitti, Ryan J.

AU - Farrer, Matthew J.

AU - Wszolek, Zbigniew K.

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N2 - Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study.

AB - Spinocerebellar ataxia type 8 (SCA8) is caused by the expansion of CTA/CTG triplet repeats on 13q21. Cases can be familial or sporadic. The clinical findings include cerebellar ataxia with upper motor neuron dysfunction, dysphagia, peripheral sensory disturbances, or cognitive and psychiatric impairments, indicating phenotypic variability in SCA8. We report on a patient with rapidly progressive parkinsonism-plus syndrome resembling corticobasal degeneration and triplet expansions in the SCA8 locus. The relationship between clinical phenotype and triplet expansions in the SCA8 locus requires further study.

KW - Clinical presentation

KW - Corticobasal degeneration

KW - Spinocerebellar ataxia type 8

KW - Sporadic

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Sporadic SCA8 mutation resembling corticobasal degeneration

Abstract

Keywords

ASJC Scopus subject areas

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