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- Title
SCA2 may present as levodopa-responsive parkinsonism.
- Authors
Payami, Haydeh; Nutt, John; Gancher, Steven; Bird, Thomas; McNeal, Melissa Gonzales; Seltzer, William K.; Hussey, Jennifer; Lockhart, Paul; Gwinn-Hardy, Katrina; Singleton, Amanda A.; Singleton, Andrew B.; Hardy, John; Farrer, Matthew
- 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. © 2002 Movement Disorder Society
- Publication
Movement Disorders, 2003, Vol 18, Issue 4, p425
- ISSN
0885-3185
- Publication type
Article
- DOI
10.1002/mds.10375