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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