ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
Identifieur interne : 002598 ( PubMed/Curation ); précédent : 002597; suivant : 002599ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
Auteurs : Jee-Young Lee [Corée du Sud] ; Seema Gollamudi ; Laurie J. Ozelius ; Ji-Young Kim ; Beom S. JeonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Methionine, Sodium-Potassium-Exchanging ATPase, Threonine.
- geographic , ethnology : Korea.
- complications : Dystonic Disorders, Parkinsonian Disorders.
- genetics : Dystonic Disorders, Parkinsonian Disorders.
- Adult, Humans, Male, Mutation.
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 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.
DOI: 10.1002/mds.21638
PubMed: 17595045
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pubmed:17595045Le document en format XML
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<affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Seoul National University Hospital, Chongno-Gu, Seoul, Korea.</nlm:affiliation>
<country xml:lang="fr">Corée du Sud</country>
<wicri:regionArea>Department of Neurology, Seoul National University Hospital, Chongno-Gu, Seoul</wicri:regionArea>
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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 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.</div>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>(c) 2007 Movement Disorder Society.</CopyrightInformation>
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