ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism
Identifieur interne : 001B57 ( Istex/Checkpoint ); précédent : 001B56; suivant : 001B58ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism
Auteurs : Jee-Young Lee [Corée du Sud] ; Seema Gollamudi [États-Unis] ; Laurie J. Ozelius [États-Unis] ; Ji-Young Kim [Corée du Sud] ; Beom S. Jeon [Corée du Sud]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-09-15.
English descriptors
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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DOI: 10.1002/mds.21638
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<front><div type="abstract" xml:lang="en">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</div>
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