ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism
Identifieur interne : 003049 ( Main/Exploration ); précédent : 003048; suivant : 003050ATP1A3 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.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- ATP1A3, Adult, Asian, Dystonia, Dystonic Disorders (complications), Dystonic Disorders (genetics), Humans, Korea (ethnology), Male, Methionine (genetics), Mutation, Nervous system diseases, Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Parkinsonism, Point mutation, Sodium-Potassium-Exchanging ATPase (genetics), Threonine (genetics), point mutation, rapid‐onset dystonia‐parkinsonism.
- 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 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
Url:
DOI: 10.1002/mds.21638
Affiliations:
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Ozelius</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular Genetics, Albert Einstein College of Medicine, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Kim, Ji Oung" sort="Kim, Ji Oung" uniqKey="Kim J" first="Ji-Young" last="Kim">Ji-Young Kim</name><affiliation wicri:level="3"><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Seoul National University Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>MRC, College of Medicine, Seoul National University, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName><orgName type="university">Université nationale de Séoul</orgName></affiliation></author><author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S." last="Jeon">Beom S. Jeon</name><affiliation wicri:level="3"><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>Department of Neurology, Seoul National University Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Corée du Sud</country><wicri:regionArea>MRC, College of Medicine, Seoul National University, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement></placeName><orgName type="university">Université nationale de Séoul</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-09-15">2007-09-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1808">1808</biblScope><biblScope unit="page" to="1809">1809</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5E056562C03181D32029C97FEF1F3B144536CB4F</idno><idno type="DOI">10.1002/mds.21638</idno><idno type="ArticleID">MDS21638</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP1A3</term><term>Adult</term><term>Asian</term><term>Dystonia</term><term>Dystonic Disorders (complications)</term><term>Dystonic Disorders (genetics)</term><term>Humans</term><term>Korea (ethnology)</term><term>Male</term><term>Methionine (genetics)</term><term>Mutation</term><term>Nervous system diseases</term><term>Parkinsonian Disorders (complications)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonism</term><term>Point mutation</term><term>Sodium-Potassium-Exchanging ATPase (genetics)</term><term>Threonine (genetics)</term><term>point mutation</term><term>rapid‐onset dystonia‐parkinsonism</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Methionine</term><term>Sodium-Potassium-Exchanging ATPase</term><term>Threonine</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>Korea</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Dystonic Disorders</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Humans</term><term>Male</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Mutation ponctuelle</term><term>Parkinsonisme</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></front></TEI><affiliations><list><country><li>Corée du Sud</li><li>États-Unis</li></country><region><li>État de New York</li></region><settlement><li>Séoul</li></settlement><orgName><li>Université nationale de Séoul</li></orgName></list><tree><country name="Corée du Sud"><noRegion><name sortKey="Lee, Jee Oung" sort="Lee, Jee Oung" uniqKey="Lee J" first="Jee-Young" last="Lee">Jee-Young Lee</name></noRegion><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S." last="Jeon">Beom S. Jeon</name><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S." last="Jeon">Beom S. Jeon</name><name sortKey="Kim, Ji Oung" sort="Kim, Ji Oung" uniqKey="Kim J" first="Ji-Young" last="Kim">Ji-Young Kim</name><name sortKey="Kim, Ji Oung" sort="Kim, Ji Oung" uniqKey="Kim J" first="Ji-Young" last="Kim">Ji-Young Kim</name><name sortKey="Lee, Jee Oung" sort="Lee, Jee Oung" uniqKey="Lee J" first="Jee-Young" last="Lee">Jee-Young Lee</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Gollamudi, Seema" sort="Gollamudi, Seema" uniqKey="Gollamudi S" first="Seema" last="Gollamudi">Seema Gollamudi</name></region><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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