Article
Sporadic SCA8 mutation resembling corticobasal degeneration.
Parkinsonism & related disorders - 1 May 2005
Baba Yasuhiko, Uitti Ryan J, Farrer Matthew J, Wszolek Zbigniew K
Abstract excerpt
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...
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