title: ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
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.
authors.affiliation: Department of Neurology, Seoul National University Hospital, Chongno-Gu, Seoul, Korea.
authors.forename: Jee-Young
authors.initials: JY
authors.lastname: Lee
authors.forename: Seema
authors.initials: S
authors.lastname: Gollamudi
authors.forename: Laurie J
authors.initials: LJ
authors.lastname: Ozelius
authors.forename: Ji-Young
authors.initials: JY
authors.lastname: Kim
authors.forename: Beom S
authors.initials: BS
authors.lastname: Jeon
mesh_terms: D000328:Adult; D020821:Dystonic Disorders / Q000150:complications / Q000235:genetics*; D006801:Humans; D007723:Korea / Q000208:ethnology; D008297:Male; D008715:Methionine / Q000235:genetics; D009154:Mutation; D020734:Parkinsonian Disorders / Q000150:complications / Q000235:genetics*; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D013912:Threonine / Q000235:genetics
chemical_list: D013912:Threonine; D008715:Methionine; D000254:Sodium-Potassium-Exchanging ATPase