ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
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.
Lee
Jee-Young
JY
Department of Neurology, Seoul National University Hospital, Chongno-Gu, Seoul, Korea.
Gollamudi
Seema
S
Ozelius
Laurie J
LJ
Kim
Ji-Young
JY
Jeon
Beom S
BS
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
D013912:Threonine; D008715:Methionine; D000254:Sodium-Potassium-Exchanging ATPase