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

✍ Scribed by Jee-Young Lee; Seema Gollamudi; Laurie J. Ozelius; Ji-Young Kim; Beom S. Jeon

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
50 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

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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