ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism
Identifieur interne : 003B09 ( Istex/Corpus ); précédent : 003B08; suivant : 003B10ATP1A3 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. JeonSource :
- Movement Disorders [ 0885-3185 ] ; 2007-09-15.
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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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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><istex><corpusName>wiley</corpusName><author><json:item><name>Jee‐Young Lee MD</name><affiliations><json:string>Department of Neurology, Seoul National University Hospital, Seoul, Korea</json:string><json:string>MRC, College of Medicine, Seoul National University, Seoul, Korea</json:string></affiliations></json:item><json:item><name>Seema Gollamudi PhD</name><affiliations><json:string>Department of Molecular Genetics, Albert Einstein College of Medicine, New York, USA</json:string></affiliations></json:item><json:item><name>Laurie J. 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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. 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He is on baclofen 30 mg and trihexyphenidyl 30 mg a day</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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<sup>+</sup>/K<sup>+</sup>‐ATPase α3 subunit gene (<i>ATP1A3</i>). 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</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Brief Reports</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>ATP1A3 mutation in the first asian case of rapid‐onset dystonia‐parkinsonism</title></titleInfo><name type="personal"><namePart type="given">Jee‐Young</namePart><namePart type="family">Lee</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Seoul National University Hospital, Seoul, Korea</affiliation><affiliation>MRC, College of Medicine, Seoul National University, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Seema</namePart><namePart type="family">Gollamudi</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurie J.</namePart><namePart type="family">Ozelius</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ji‐Young</namePart><namePart type="family">Kim</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Seoul National University Hospital, Seoul, Korea</affiliation><affiliation>MRC, College of Medicine, Seoul National University, Seoul, Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Beom S.</namePart><namePart type="family">Jeon</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Seoul National University Hospital, Seoul, Korea</affiliation><affiliation>MRC, College of Medicine, Seoul National University, Seoul, Korea</affiliation><description>Correspondence: Department of Neurology, Seoul National University Hospital, College of Medicine, Seoul National University, 28 Yongon‐Dong, Chongno‐Gu, 110–744 Seoul, Korea</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-09-15</dateIssued><dateCaptured encoding="w3cdtf">2007-04-02</dateCaptured><dateValid encoding="w3cdtf">2007-05-23</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="references">8</extent><extent unit="words">1288</extent></physicalDescription><abstract 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</abstract><subject lang="en"><genre>Keywords</genre><topic>rapid‐onset dystonia‐parkinsonism</topic><topic>ATP1A3</topic><topic>point mutation</topic><topic>Asian</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> This article includes supplementary video clips, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmatSupporting Info Item: The video taken at age 38 shows severe generalized dystonia and parkinsonism with marked bradykinesia and mild postural instability. He is on baclofen 30 mg and trihexyphenidyl 30 mg a day - </note><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>1808</start><end>1809</end><total>2</total></extent></part></relatedItem><identifier type="istex">5E056562C03181D32029C97FEF1F3B144536CB4F</identifier><identifier type="DOI">10.1002/mds.21638</identifier><identifier type="ArticleID">MDS21638</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2007 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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