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ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism
Cited 23 time in
Web of Science
Cited 28 time in Scopus
- Authors
- Issue Date
- 2007-06-28
- Publisher
- Wiley-Blackwell
- Citation
- Mov Disord. 2007 Sep 15;22(12):1808-9.
- Keywords
- Adult ; Dystonic Disorders/complications/*genetics ; Humans ; Korea/ethnology ; Male ; Methionine/genetics ; Sodium-Potassium-Exchanging ATPase/*genetics ; Parkinsonian Disorders/complications/*genetics ; Threonine/genetics ; Mutation
- Abstract
- We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na(+)/K(+)-ATPase alpha3 subunit gene (ATP1A3). At the age of 21, he acutely developed severe dystonia and parkinsonism, which rapidly deteriorated into a wheelchair-bound state within 4 days. He is the first Asian RDP patient confirmed by genetic testing, ascertaining that RDP gene mutation is present in Asians. Pathophysiological considerations are briefly discussed.
- ISSN
- 0885-3185 (Print)
- Language
- English
- URI
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17595045
https://hdl.handle.net/10371/22339
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