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ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

Cited 20 time in Web of Science Cited 25 time in Scopus
Authors
Lee, J. Y.; Gollamudi, S.; Ozelius, L. J.; Kim, J. Y.; Jeon, B. S.
Issue Date
2007-06-28
Publisher
Wiley-Blackwell
Citation
Mov Disord. 2007 Sep 15;22(12):1808-9.
Keywords
AdultDystonic Disorders/complications/*geneticsHumansKorea/ethnologyMaleMethionine/genetics*MutationSodium-Potassium-Exchanging ATPase/*geneticsParkinsonian Disorders/complications/*geneticsThreonine/genetics
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

http://hdl.handle.net/10371/22339
DOI
https://doi.org/10.1002/mds.21638
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College of Medicine/School of Medicine (의과대학/대학원)Neuroscience (뇌신경과학전공)Journal Papers (저널논문_뇌신경과학전공)
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