MovDisordV3, PubMed, Corpus, bibRecord, 002598

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

Identifieur interne : 002598 ( PubMed/Corpus ); précédent : 002597; suivant : 002599

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

Auteurs : Jee-Young Lee ; Seema Gollamudi ; Laurie J. Ozelius ; Ji-Young Kim ; Beom S. Jeon

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.

RBID : pubmed:17595045

English descriptors

KwdEn :
- Adult, Dystonic Disorders (complications), Dystonic Disorders (genetics), Humans, Korea (ethnology), Male, Methionine (genetics), Mutation, Parkinsonian Disorders (complications), Parkinsonian Disorders (genetics), Sodium-Potassium-Exchanging ATPase (genetics), Threonine (genetics).
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

Links to Exploration step

pubmed:17595045

Le document en format XML

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<author><name sortKey="Lee, Jee Young" sort="Lee, Jee Young" uniqKey="Lee J" first="Jee-Young" last="Lee">Jee-Young Lee</name>
<affiliation><nlm:affiliation>Department of Neurology, Seoul National University Hospital, Chongno-Gu, Seoul, Korea.</nlm:affiliation>
</affiliation>
</author>
<author><name sortKey="Gollamudi, Seema" sort="Gollamudi, Seema" uniqKey="Gollamudi S" first="Seema" last="Gollamudi">Seema Gollamudi</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</author>
<author><name sortKey="Kim, Ji Young" sort="Kim, Ji Young" uniqKey="Kim J" first="Ji-Young" last="Kim">Ji-Young Kim</name>
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<author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name>
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<author><name sortKey="Lee, Jee Young" sort="Lee, Jee Young" uniqKey="Lee J" first="Jee-Young" last="Lee">Jee-Young Lee</name>
<affiliation><nlm:affiliation>Department of Neurology, Seoul National University Hospital, Chongno-Gu, Seoul, Korea.</nlm:affiliation>
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<author><name sortKey="Gollamudi, Seema" sort="Gollamudi, Seema" uniqKey="Gollamudi S" first="Seema" last="Gollamudi">Seema Gollamudi</name>
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<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
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<author><name sortKey="Kim, Ji Young" sort="Kim, Ji Young" uniqKey="Kim J" first="Ji-Young" last="Kim">Ji-Young Kim</name>
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<author><name sortKey="Jeon, Beom S" sort="Jeon, Beom S" uniqKey="Jeon B" first="Beom S" last="Jeon">Beom S. Jeon</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</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>Parkinsonian Disorders (complications)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Sodium-Potassium-Exchanging ATPase (genetics)</term>
<term>Threonine (genetics)</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>
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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>
</front>
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<DateCreated><Year>2007</Year>
<Month>10</Month>
<Day>01</Day>
</DateCreated>
<DateCompleted><Year>2008</Year>
<Month>01</Month>
<Day>09</Day>
</DateCompleted>
<DateRevised><Year>2013</Year>
<Month>11</Month>
<Day>21</Day>
</DateRevised>
<Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN>
<JournalIssue CitedMedium="Print"><Volume>22</Volume>
<Issue>12</Issue>
<PubDate><Year>2007</Year>
<Month>Sep</Month>
<Day>15</Day>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.</ArticleTitle>
<Pagination><MedlinePgn>1808-9</MedlinePgn>
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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>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Lee</LastName>
<ForeName>Jee-Young</ForeName>
<Initials>JY</Initials>
<AffiliationInfo><Affiliation>Department of Neurology, Seoul National University Hospital, Chongno-Gu, Seoul, Korea.</Affiliation>
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<Author ValidYN="Y"><LastName>Gollamudi</LastName>
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<Author ValidYN="Y"><LastName>Jeon</LastName>
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<ChemicalList><Chemical><RegistryNumber>2ZD004190S</RegistryNumber>
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<MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="Y" UI="D009154">Mutation</DescriptorName>
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<MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D000254">Sodium-Potassium-Exchanging ATPase</DescriptorName>
<QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName MajorTopicYN="N" UI="D013912">Threonine</DescriptorName>
<QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year>
<Month>6</Month>
<Day>28</Day>
<Hour>9</Hour>
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	Movement Disorders (revue)
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Movement Disorders (revue)

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

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

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki