DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
Identifieur interne : 001017 ( Istex/Corpus ); précédent : 001016; suivant : 001018DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
Auteurs : Justus L. Groen ; Katja Ritz ; Maria Fiorella Contarino ; Bart P. Van De Warrenburg ; Majid Aramideh ; Elisabeth M. Foncke ; Jacobus J. Van Hilten ; P. Richard Schuurman ; Johannes D. Speelman ; Johannes H. Koelman ; Rob M. A. De Bie ; Frank Baas ; Marina A. TijssenSource :
- Movement Disorders [ 0885-3185 ] ; 2010-10-30.
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Abstract
Mutations in THAP1, a gene encoding a nuclear pro‐apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio‐cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult‐onset (≥26 years) dystonia (n = 388) and early‐onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early‐onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult‐onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult‐onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech. © 2010 Movement Disorder Society
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DOI: 10.1002/mds.23285
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Groen</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><affiliation><mods:affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Contarino, Maria Fiorella" sort="Contarino, Maria Fiorella" uniqKey="Contarino M" first="Maria Fiorella" last="Contarino">Maria Fiorella Contarino</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P." last="Van De Warrenburg">Bart P. 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Koelman</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="De Bie, Rob M A" sort="De Bie, Rob M A" uniqKey="De Bie R" first="Rob M. A." last="De Bie">Rob M. A. De Bie</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name><affiliation><mods:affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Tijssen, Marina A" sort="Tijssen, Marina A" uniqKey="Tijssen M" first="Marina A." last="Tijssen">Marina A. Tijssen</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</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="2010-10-30">2010-10-30</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2420">2420</biblScope><biblScope unit="page" to="2427">2427</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A81611ACD121D9D0B4B3A97C9AEBDF90E513EF82</idno><idno type="DOI">10.1002/mds.23285</idno><idno type="ArticleID">MDS23285</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DYT6</term><term>THAP1</term><term>deep brain stimulation</term><term>genetic screening</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in THAP1, a gene encoding a nuclear pro‐apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio‐cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult‐onset (≥26 years) dystonia (n = 388) and early‐onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early‐onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult‐onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult‐onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech. © 2010 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Justus L. Groen MD</name><affiliations><json:string>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string><json:string>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Katja Ritz MSc</name><affiliations><json:string>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Maria Fiorella Contarino MD</name><affiliations><json:string>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Bart P. van de Warrenburg MD, PhD</name><affiliations><json:string>Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</json:string></affiliations></json:item><json:item><name>Majid Aramideh MD, PhD</name><affiliations><json:string>Department of Neurology, Medical Centre Alkmaar, Alkmaar, The Netherlands</json:string></affiliations></json:item><json:item><name>Elisabeth M. Foncke MD, PhD</name><affiliations><json:string>Department of Neurology, VU University Medical Centre, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Jacobus J. van Hilten MD, PhD</name><affiliations><json:string>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</json:string></affiliations></json:item><json:item><name>P. Richard Schuurman MD, PhD</name><affiliations><json:string>Department of Neurosurgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Johannes D. Speelman MD, PhD</name><affiliations><json:string>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Johannes H. Koelman MD, PhD</name><affiliations><json:string>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Rob M.A. de Bie MD, PhD</name><affiliations><json:string>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Frank Baas MD, PhD</name><affiliations><json:string>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Marina A. Tijssen MD, PhD</name><affiliations><json:string>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>DYT6</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>THAP1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic screening</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>deep brain stimulation</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Mutations in THAP1, a gene encoding a nuclear pro‐apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio‐cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult‐onset (≥26 years) dystonia (n = 388) and early‐onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early‐onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult‐onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult‐onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech. © 2010 Movement Disorder Society</abstract><qualityIndicators><score>6.644</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1203</abstractCharCount><pdfWordCount>4520</pdfWordCount><pdfCharCount>29476</pdfCharCount><pdfPageCount>8</pdfPageCount><abstractWordCount>177</abstractWordCount></qualityIndicators><title>DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation</title><genre><json:string>Serial article</json:string></genre><host><volume>25</volume><pages><total>8</total><last>2427</last><first>2420</first></pages><issn><json:string>0885-3185</json:string></issn><issue>14</issue><subject><json:item><value>Research Article</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/mds.23285</json:string></doi><id>A81611ACD121D9D0B4B3A97C9AEBDF90E513EF82</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/A81611ACD121D9D0B4B3A97C9AEBDF90E513EF82/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/A81611ACD121D9D0B4B3A97C9AEBDF90E513EF82/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/A81611ACD121D9D0B4B3A97C9AEBDF90E513EF82/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation</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>2010</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: Nothing to report.</note><note>The Prinses Beatrix Fund</note><note>The Prinses Beatrix Fund</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation</title><author><persName><forename type="first">Justus L.</forename><surname>Groen</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Katja</forename><surname>Ritz</surname><roleName type="degree">MSc</roleName></persName><affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Maria Fiorella</forename><surname>Contarino</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Bart P.</forename><surname>van de Warrenburg</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</affiliation></author><author><persName><forename type="first">Majid</forename><surname>Aramideh</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Medical Centre Alkmaar, Alkmaar, The Netherlands</affiliation></author><author><persName><forename type="first">Elisabeth M.</forename><surname>Foncke</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, VU University Medical Centre, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Jacobus J.</forename><surname>van Hilten</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</affiliation></author><author><persName><forename type="first">P. Richard</forename><surname>Schuurman</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurosurgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Johannes D.</forename><surname>Speelman</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Johannes H.</forename><surname>Koelman</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Rob M.A.</forename><surname>de Bie</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Frank</forename><surname>Baas</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author><author><persName><forename type="first">Marina A.</forename><surname>Tijssen</surname><roleName type="degree">MD, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology H2‐237, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands</p></note><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-10-30"></date><biblScope unit="vol">25</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2420">2420</biblScope><biblScope unit="page" to="2427">2427</biblScope></imprint></monogr><idno type="istex">A81611ACD121D9D0B4B3A97C9AEBDF90E513EF82</idno><idno type="DOI">10.1002/mds.23285</idno><idno type="ArticleID">MDS23285</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Mutations in THAP1, a gene encoding a nuclear pro‐apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio‐cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult‐onset (≥26 years) dystonia (n = 388) and early‐onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early‐onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult‐onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult‐onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech. © 2010 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>DYT6</term></item><item><term>THAP1</term></item><item><term>genetic screening</term></item><item><term>deep brain stimulation</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2010-02-10">Received</change><change when="2010-05-10">Registration</change><change when="2010-10-30">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/A81611ACD121D9D0B4B3A97C9AEBDF90E513EF82/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="140"><doi origin="wiley" registered="yes">10.1002/mds.v25:14</doi><numberingGroup><numbering type="journalVolume" number="25">25</numbering><numbering type="journalIssue">14</numbering></numberingGroup><coverDate startDate="2010-10-30">30 October 2010</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="220" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23285</doi><idGroup><id type="unit" value="MDS23285"></id></idGroup><countGroup><count type="pageTotal" number="8"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2010 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2010-02-10"></event><event type="manuscriptRevised" date="2010-04-02"></event><event type="manuscriptAccepted" date="2010-05-10"></event><event type="firstOnline" date="2010-08-04"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2010-08-04"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.5.2 mode:FullText source:FullText result:FullText" date="2011-07-06"></event><event type="publishedOnlineFinalForm" date="2010-10-25"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">2420</numbering><numbering type="pageLast">2427</numbering></numberingGroup><correspondenceTo>Department of Neurology H2‐237, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23285.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="29"></count><count type="wordTotal" number="6045"></count></countGroup><titleGroup><title type="main" xml:lang="en">DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation<link href="#fn5"></link></title><title type="short" xml:lang="en">DYT6 Genetic Screening and DBS</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Justus L.</givenNames><familyName>Groen</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Katja</givenNames><familyName>Ritz</familyName><degrees>MSc</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Maria Fiorella</givenNames><familyName>Contarino</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Bart P.</givenNames><familyName>van de Warrenburg</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Majid</givenNames><familyName>Aramideh</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Elisabeth M.</givenNames><familyName>Foncke</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Jacobus J.</givenNames><familyName>van Hilten</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af7"><personName><givenNames>P. Richard</givenNames><familyName>Schuurman</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Johannes D.</givenNames><familyName>Speelman</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Johannes H.</givenNames><familyName>Koelman</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Rob M.A.</givenNames><familyName>de Bie</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Frank</givenNames><familyName>Baas</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Marina A.</givenNames><familyName>Tijssen</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>m.a.tijssen@amc.uva.nl</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, Medical Centre Alkmaar, Alkmaar, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, VU University Medical Centre, Amsterdam, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="NL" type="organization"><unparsedAffiliation>Department of Neurosurgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">DYT6</keyword><keyword xml:id="kwd2">THAP1</keyword><keyword xml:id="kwd3">genetic screening</keyword><keyword xml:id="kwd4">deep brain stimulation</keyword></keywordGroup><fundingInfo><fundingAgency>The Prinses Beatrix Fund</fundingAgency></fundingInfo><fundingInfo><fundingAgency>The Prinses Beatrix Fund</fundingAgency></fundingInfo><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23285:MDS_23285_sm_supptables"></mediaResource><caption>Supporting Table 1 and 2</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23285:MDS_23285_sm_suppmov1"></mediaResource><caption>Supporting Information Video 1</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23285:MDS_23285_sm_suppmov2"></mediaResource><caption>Supporting Information Video 2</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23285:MDS_23285_sm_suppmov3"></mediaResource><caption>Supporting Information Video 3</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Mutations in <i>THAP1</i>, a gene encoding a nuclear pro‐apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio‐cervical and laryngeal involvement. Here we assessed the frequency and phenotype of <i>THAP1</i> mutation carriers in a large Dutch cohort of adult‐onset (≥26 years) dystonia (n = 388) and early‐onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early‐onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult‐onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult‐onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech. © 2010 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn5"><p>Potential conflict of interest: Nothing to report.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>DYT6 Genetic Screening and DBS</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation</title></titleInfo><name type="personal"><namePart type="given">Justus L.</namePart><namePart type="family">Groen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Ritz</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria Fiorella</namePart><namePart type="family">Contarino</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Bart P.</namePart><namePart type="family">van de Warrenburg</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Donders Centre for Brain, Cognition and Behavior, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Majid</namePart><namePart type="family">Aramideh</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Medical Centre Alkmaar, Alkmaar, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elisabeth M.</namePart><namePart type="family">Foncke</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, VU University Medical Centre, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jacobus J.</namePart><namePart type="family">van Hilten</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Leiden University Medical Centre, Leiden, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P. Richard</namePart><namePart type="family">Schuurman</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurosurgery, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johannes D.</namePart><namePart type="family">Speelman</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johannes H.</namePart><namePart type="family">Koelman</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rob M.A.</namePart><namePart type="family">de Bie</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Frank</namePart><namePart type="family">Baas</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurogenetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marina A.</namePart><namePart type="family">Tijssen</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands</affiliation><description>Correspondence: Department of Neurology H2‐237, Academic Medical Centre, University of Amsterdam, PO Box 22660, 1100 DD Amsterdam, The Netherlands</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">2010-10-30</dateIssued><dateCaptured encoding="w3cdtf">2010-02-10</dateCaptured><dateValid encoding="w3cdtf">2010-05-10</dateValid><copyrightDate encoding="w3cdtf">2010</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">1</extent><extent unit="tables">3</extent><extent unit="references">29</extent><extent unit="words">6045</extent></physicalDescription><abstract lang="en">Mutations in THAP1, a gene encoding a nuclear pro‐apoptotic protein, have been associated with DYT6 dystonia. First reports on the phenotype of DYT6 dystonia show an early onset dystonia with predominant cranio‐cervical and laryngeal involvement. Here we assessed the frequency and phenotype of THAP1 mutation carriers in a large Dutch cohort of adult‐onset (≥26 years) dystonia (n = 388) and early‐onset dystonia (n = 67) patients. We describe the phenotype of DYT6 dystonia patients and their response on GPi DBS. Overall, 3 nonsynonymous heterozygous mutations were detected in the early‐onset group (4.5%). Two DYT6 families were identified, showing a heterozygous phenotype. All patients had segmental or generalized dystonia, often associated with profound oromandibular and laryngeal involvement. No nonsynonymous mutations were found in patients with adult‐onset focal dystonia. Rare synonymous variants were identified in conserved regions of THAP1, two in the adult‐onset cervical dystonia group and one in the control group. Four DYT6 dystonia patients were treated with GPi DBS with moderate to good response on motor function but marginal benefit on speech. © 2010 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><note type="funding">The Prinses Beatrix Fund</note><note type="funding">The Prinses Beatrix Fund</note><subject lang="en"><genre>Keywords</genre><topic>DYT6</topic><topic>THAP1</topic><topic>genetic screening</topic><topic>deep brain stimulation</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Table 1 and 2 - Supporting Information Video 1 - Supporting Information Video 2 - Supporting Information Video 3 - </note><subject><genre>article category</genre><topic>Research Article</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>2010</date><detail type="volume"><caption>vol.</caption><number>25</number></detail><detail type="issue"><caption>no.</caption><number>14</number></detail><extent unit="pages"><start>2420</start><end>2427</end><total>8</total></extent></part></relatedItem><identifier type="istex">A81611ACD121D9D0B4B3A97C9AEBDF90E513EF82</identifier><identifier type="DOI">10.1002/mds.23285</identifier><identifier type="ArticleID">MDS23285</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2010 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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