Publications
Detailed Information
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lee, J. Y. | - |
dc.contributor.author | Gollamudi, S. | - |
dc.contributor.author | Ozelius, L. J. | - |
dc.contributor.author | Kim, J. Y. | - |
dc.contributor.author | Jeon, B. S. | - |
dc.date.accessioned | 2009-12-24T07:40:44Z | - |
dc.date.available | 2009-12-24T07:40:44Z | - |
dc.date.issued | 2007-06-28 | - |
dc.identifier.citation | Mov Disord. 2007 Sep 15;22(12):1808-9. | en |
dc.identifier.issn | 0885-3185 (Print) | - |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=17595045 | - |
dc.identifier.uri | https://hdl.handle.net/10371/22339 | - |
dc.description.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. | en |
dc.language.iso | en | - |
dc.publisher | Wiley-Blackwell | en |
dc.subject | Adult | en |
dc.subject | Dystonic Disorders/complications/*genetics | en |
dc.subject | Humans | en |
dc.subject | Korea/ethnology | en |
dc.subject | Male | en |
dc.subject | Methionine/genetics | en |
dc.subject | Sodium-Potassium-Exchanging ATPase/*genetics | en |
dc.subject | Parkinsonian Disorders/complications/*genetics | en |
dc.subject | Threonine/genetics | en |
dc.subject | Mutation | - |
dc.title | ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism | en |
dc.type | Article | en |
dc.contributor.AlternativeAuthor | 이지영 | - |
dc.contributor.AlternativeAuthor | 김지영 | - |
dc.contributor.AlternativeAuthor | 전범석 | - |
dc.identifier.doi | 10.1002/mds.21638 | - |
- Appears in Collections:
- Files in This Item:
- There are no files associated with this item.
Item View & Download Count
Items in S-Space are protected by copyright, with all rights reserved, unless otherwise indicated.