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Mov Disord. 2003 Apr;18(4):425-9.

SCA2 may present as levodopa-responsive parkinsonism.

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  • 1Department of Neurology, Oregon Health and Science University, Portland, Oregon, USA. hpayami@wadsorth.org

Abstract

Some kindreds with familial parkinsonism exhibit genetic anticipation, suggesting possible involvement of trinucleotide repeat expansion. Recent reports have shown trinucleotide repeat expansions in the spinocerebellar ataxia 2 (SCA2) gene in patients with levodopa-responsive parkinsonism. We tested 136 unrelated patients with familial parkinsonism for SCA2 mutations. Two probands had borderline mutations; the rest were normal. (<or=31 repeats is normal, 32-35 is borderline, >or=36 is pathogenic). The expanded allele segregated with neurological signs in one kindred. The absence of borderline mutations in the normal population, and the co-segregation of the expanded allele with neurological signs in one kindred suggest that SCA2 mutations may be responsible for a subset of familial parkinsonism.

Copyright 2002 Movement Disorder Society

PMID:
12671950
[PubMed - indexed for MEDLINE]
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