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
收藏
页码：1808 / 1809
页数：2
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