ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism | Zendy

Lee JeeYoung | Zendy; Gollamudi Seema | Zendy; Ozelius Laurie J. | Zendy; Kim JiYoung | Zendy; Jeon Beom S. | Zendy

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ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism

Author(s) -

Lee JeeYoung,

Gollamudi Seema,

Ozelius Laurie J.,

Kim JiYoung,

Jeon Beom S.

Publication year - 2007

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.21638

Subject(s) - parkinsonism , dystonia , mutation , pathophysiology , medicine , age of onset , neuroscience , psychology , genetics , gene , biology , disease

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 α3 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. © 2007 Movement Disorder Society

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