GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
Identifieur interne : 000B27 ( Istex/Corpus ); précédent : 000B26; suivant : 000B28GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias
Auteurs : Susanne A. Schneider ; Coro Paisan-Ruiz ; Ines Garcia-Gorostiaga ; Niall P. Quinn ; Yvonne G. Weber ; Holger Lerche ; John Hardy ; Kailash P. BhatiaSource :
- Movement Disorders [ 0885-3185 ] ; 2009-08-15.
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Abstract
Paroxysmal exercise‐induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22507
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Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Susanne A. Schneider MD</name><affiliations><json:string>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Coro Paisan‐Ruiz PhD</name><affiliations><json:string>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Ines Garcia‐Gorostiaga MD</name><affiliations><json:string>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</json:string><json:string>Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), “Marqués de Valdecilla” University Hospital (University of Cantabria), Santander, Spain</json:string></affiliations></json:item><json:item><name>Niall P. Quinn MD</name><affiliations><json:string>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Yvonne G. Weber MD</name><affiliations><json:string>Neurologische Klinik</json:string></affiliations></json:item><json:item><name>Holger Lerche MD</name><affiliations><json:string>Neurologische Klinik</json:string><json:string>Institut für Angewandte Physiologie, Universität Ulm, Zentrum Klinische Forschung, Ulm, Germany</json:string></affiliations></json:item><json:item><name>John Hardy PhD</name><affiliations><json:string>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Kailash P. Bhatia MD</name><affiliations><json:string>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>paroxysmal dyskinesias</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genotype phenotype</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>GLUT1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PED</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Paroxysmal exercise‐induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. 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dyskinesias</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2009</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: The authors have no conflict of interest.</note><note>Brain Research Trust</note><note>Bachmann Strauss Foundation</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias</title><author><persName><forename type="first">Susanne A.</forename><surname>Schneider</surname><roleName type="degree">MD</roleName></persName><note type="biography">The first two authors have equally contributed to this study.</note><affiliation>The first two authors have equally contributed to this study.</affiliation><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation></author><author><persName><forename type="first">Coro</forename><surname>Paisan‐Ruiz</surname><roleName type="degree">PhD</roleName></persName><note type="biography">The first two authors have equally contributed to this study.</note><affiliation>The first two authors have equally contributed to this study.</affiliation><affiliation>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation></author><author><persName><forename type="first">Ines</forename><surname>Garcia‐Gorostiaga</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation><affiliation>Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), “Marqués de Valdecilla” University Hospital (University of Cantabria), Santander, Spain</affiliation></author><author><persName><forename type="first">Niall P.</forename><surname>Quinn</surname><roleName type="degree">MD</roleName></persName><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation></author><author><persName><forename type="first">Yvonne G.</forename><surname>Weber</surname><roleName type="degree">MD</roleName></persName><affiliation>Neurologische Klinik</affiliation></author><author><persName><forename type="first">Holger</forename><surname>Lerche</surname><roleName type="degree">MD</roleName></persName><affiliation>Neurologische Klinik</affiliation><affiliation>Institut für Angewandte Physiologie, Universität Ulm, Zentrum Klinische Forschung, Ulm, Germany</affiliation></author><author><persName><forename 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Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. 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href="file:MDS.MDS22507.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="0"></count><count type="referenceTotal" number="31"></count><count type="wordTotal" number="2842"></count></countGroup><titleGroup><title type="main" xml:lang="en">GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias<link href="#fn2"></link></title><title type="short" xml:lang="en">GLUT1 Mutations Cause Sporadic PED</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" noteRef="#fn3"><personName><givenNames>Susanne A.</givenNames><familyName>Schneider</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2" noteRef="#fn3"><personName><givenNames>Coro</givenNames><familyName>Paisan‐Ruiz</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2 #af3"><personName><givenNames>Ines</givenNames><familyName>Garcia‐Gorostiaga</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Niall P.</givenNames><familyName>Quinn</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Yvonne G.</givenNames><familyName>Weber</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4 #af5"><personName><givenNames>Holger</givenNames><familyName>Lerche</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>John</givenNames><familyName>Hardy</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Kailash P.</givenNames><familyName>Bhatia</familyName><degrees>MD</degrees></personName><contactDetails><email>k.bhatia@ion.ucl.ac.uk</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="GB" type="organization"><unparsedAffiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="ES" type="organization"><unparsedAffiliation>Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), “Marqués de Valdecilla” University Hospital (University of Cantabria), Santander, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="BE" type="organization"><unparsedAffiliation>Neurologische Klinik</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="GB" type="organization"><unparsedAffiliation>Institut für Angewandte Physiologie, Universität Ulm, Zentrum Klinische Forschung, Ulm, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">paroxysmal dyskinesias</keyword><keyword xml:id="kwd2">genotype phenotype</keyword><keyword xml:id="kwd3">GLUT1</keyword><keyword xml:id="kwd4">PED</keyword></keywordGroup><fundingInfo><fundingAgency>Brain Research Trust</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Bachmann Strauss Foundation</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Paroxysmal exercise‐induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (<i>GLUT1</i>) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel <i>GLUT1</i> mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in <i>GLUT1</i> are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn2"><p>Potential conflict of interest: The authors have no conflict of interest.</p></note><note xml:id="fn3"><p>The first two authors have equally contributed to this study.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>GLUT1 Mutations Cause Sporadic PED</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>GLUT1 gene mutations cause sporadic paroxysmal exercise‐induced dyskinesias</title></titleInfo><name type="personal"><namePart type="given">Susanne A.</namePart><namePart type="family">Schneider</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation><description>The first two authors have equally contributed to this study.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Coro</namePart><namePart type="family">Paisan‐Ruiz</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation><description>The first two authors have equally contributed to this study.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ines</namePart><namePart type="family">Garcia‐Gorostiaga</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation><affiliation>Neurology Service and Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), “Marqués de Valdecilla” University Hospital (University of Cantabria), Santander, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Niall P.</namePart><namePart type="family">Quinn</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yvonne G.</namePart><namePart type="family">Weber</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurologische Klinik</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Holger</namePart><namePart type="family">Lerche</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurologische Klinik</affiliation><affiliation>Institut für Angewandte Physiologie, Universität Ulm, Zentrum Klinische Forschung, Ulm, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John</namePart><namePart type="family">Hardy</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Neuroscience, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kailash P.</namePart><namePart type="family">Bhatia</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom</affiliation><description>Correspondence: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, 7 Queen Square, London WC1N 3BG, United Kingdom</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">2009-08-15</dateIssued><dateCaptured encoding="w3cdtf">2008-09-17</dateCaptured><dateValid encoding="w3cdtf">2009-01-26</dateValid><copyrightDate encoding="w3cdtf">2009</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="figures">2</extent><extent unit="references">31</extent><extent unit="words">2842</extent></physicalDescription><abstract lang="en">Paroxysmal exercise‐induced dyskinesias (PED) are involuntary intermittent movements triggered by prolonged physical exertion. Autosomal dominant inheritance may occur. Recently, mutations in the glucose transporter 1 (GLUT1) gene (chr. 1p35–p31.3) have been identified as a cause in some patients with autosomal dominant PED. Mutations in this gene have previously been associated with the GLUT1 deficiency syndrome. We performed mutational analysis in 10 patients with apparently sporadic PED. We identified two novel GLUT1 mutations, at least one likely to be de‐novo, in two of our patients. Onset was in early childhood. One of our patients had a predating history of childhood absence epilepsy and a current history of hemiplegic migraine as well as a family history of migraine. The other patient had no other symptoms apart from PED. Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial. © 2009 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: The authors have no conflict of interest.</note><note type="funding">Brain Research Trust</note><note type="funding">Bachmann Strauss Foundation</note><subject lang="en"><genre>Keywords</genre><topic>paroxysmal dyskinesias</topic><topic>genotype phenotype</topic><topic>GLUT1</topic><topic>PED</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><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>2009</date><detail type="volume"><caption>vol.</caption><number>24</number></detail><detail type="issue"><caption>no.</caption><number>11</number></detail><extent unit="pages"><start>1684</start><end>1688</end><total>5</total></extent></part></relatedItem><identifier type="istex">AE04B8F29FE19AFF00CDA4CCA459917C1C5B4FC7</identifier><identifier type="DOI">10.1002/mds.22507</identifier><identifier type="ArticleID">MDS22507</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2009 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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