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

被引：20

作者：

Lee, Jee-Young

Gollamudi, Seema

Ozelius, Laurie J.

Kim, Ji-Young

Jeon, Beom S.

机构：

[1] Seoul Natl Univ, Coll Med, Seoul Natl Univ Hosp, Dept Neurol, Seoul 110744, South Korea

[2] Seoul Natl Univ, Coll Med, MRC, Seoul, South Korea

[3] Albert Einstein Coll Med, Dept Mol Genet, New York, NY USA

来源：

MOVEMENT DISORDERS | 2007年 / 22卷 / 12期

关键词：

rapid-onset dystonia-parkinsonism; ATP1A3; point mutation; Asian;

D O I：

10.1002/mds.21638

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 alpha 3 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. (C) 2007 Movement Disorder Society.

引用

页码：1808 / 1809

页数：2