Lee Jee-Young, Gollamudi Seema, Ozelius Laurie J, Kim Ji-Young, Jeon Beom S
Department of Neurology, Seoul National University Hospital, Chongno-Gu, Seoul, Korea.
Mov Disord. 2007 Sep 15;22(12):1808-9. doi: 10.1002/mds.21638.
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.
我们报告了一名38岁的韩国男性，患有散发性快速起病的肌张力障碍-帕金森综合征（RDP），其钠钾ATP酶α3亚基基因（ATP1A3）存在Thr 618 Met突变。21岁时，他急性出现严重的肌张力障碍和帕金森综合征，在4天内迅速恶化为需轮椅辅助行动的状态。他是首例经基因检测确诊的亚洲RDP患者，证实亚洲人也存在RDP基因突变。本文简要讨论了其病理生理学相关问题。
