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. (≤31 repeats is normal, 32-35 is borderline, ≥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.
Original language | English (US) |
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Pages (from-to) | 425-429 |
Number of pages | 5 |
Journal | Movement Disorders |
Volume | 18 |
Issue number | 4 |
DOIs | |
State | Published - Apr 1 2003 |
Keywords
- Levodopa
- Parkinsonism
- SCA2 mutation
ASJC Scopus subject areas
- Neurology
- Clinical Neurology