Abstract | OBJECTIVE: To describe the clinical and molecular genetic analysis of a large family of northern Chinese descent with a mutation at the SCA2 locus causing carbidopa-levodopa-responsive parkinsonism. BACKGROUND: Most causes of parkinsonism remain unknown. However, molecular genetic analysis of families with parkinsonism has recently identified five distinct loci and pathogenic mutations in four of those. Additionally, some of the spinocerebellar ataxia syndromes (SCA), particularly Machado-Joseph syndrome (SCA3), are known to cause parkinsonism. Spinocerebellar ataxia type 2 (SCA2) has not previously been described as causing a typical dopamine-responsive asymmetric PD phenotype. METHODS: RESULTS: CONCLUSIONS:
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Authors | K Gwinn-Hardy, J Y Chen, H C Liu, T Y Liu, M Boss, W Seltzer, A Adam, A Singleton, W Koroshetz, C Waters, J Hardy, M Farrer |
Journal | Neurology
(Neurology)
Vol. 55
Issue 6
Pg. 800-5
(Sep 26 2000)
ISSN: 0028-3878 [Print] United States |
PMID | 10993999
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Topics |
- Adult
- Asian
- Female
- Humans
- Male
- Middle Aged
- Parkinson Disease
(complications)
- Pedigree
- Spinocerebellar Ataxias
(complications, genetics)
- Taiwan
(ethnology)
- Trinucleotide Repeats
(genetics)
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