S-Space College of Medicine/School of Medicine (의과대학/대학원) Neuroscience (뇌신경과학전공) Journal Papers (저널논문_뇌신경과학전공)
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism
- Lee, J. Y.; Gollamudi, S.; Ozelius, L. J.; Kim, J. Y.; Jeon, B. S.
- Issue Date
- Mov Disord. 2007 Sep 15;22(12):1808-9.
- Adult; Dystonic Disorders/complications/*genetics; Humans; Korea/ethnology; Male; Methionine/genetics; *Mutation; Sodium-Potassium-Exchanging ATPase/*genetics; Parkinsonian Disorders/complications/*genetics; Threonine/genetics
- 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.
- 0885-3185 (Print)
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