Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp
Identifieur interne : 001707 ( Istex/Corpus ); précédent : 001706; suivant : 001708Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp
Auteurs : Katja Ritz ; Justus L. Groen ; Jose J. M. Kruisdijk ; Frank Baas ; Johannes H. T. M. Koelman ; Marina A. J. TijssenSource :
- Movement Disorders [ 0885-3185 ] ; 2009-07-15.
English descriptors
- KwdEn :
- DYT1, DYT11, DYT16, writer's cramp.
Abstract
Task‐specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society
Url:
DOI: 10.1002/mds.22632
Links to Exploration step
ISTEX:4FB5099F9D4B632F59D9FEE8677FFE29D2542D09Le document en format XML
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Groen</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Kruisdijk, Jose J M" sort="Kruisdijk, Jose J M" uniqKey="Kruisdijk J" first="Jose J. M." last="Kruisdijk">Jose J. M. Kruisdijk</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Centre, 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>Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Koelman, Johannes H T M" sort="Koelman, Johannes H T M" uniqKey="Koelman J" first="Johannes H. T. M." last="Koelman">Johannes H. T. M. 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Koelman</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</mods:affiliation></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. 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We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Katja Ritz MSc</name><affiliations><json:string>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</json:string><json:string>Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Justus L. Groen MD</name><affiliations><json:string>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Jose J.M. Kruisdijk MD</name><affiliations><json:string>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Frank Baas MD, PhD</name><affiliations><json:string>Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Johannes H.T.M. Koelman MD, PhD</name><affiliations><json:string>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item><json:item><name>Marina A.J. Tijssen MD, PhD</name><affiliations><json:string>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>writer's cramp</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>DYT1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>DYT11</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>DYT16</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Task‐specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. 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We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>writer's cramp</term></item><item><term>DYT1</term></item><item><term>DYT11</term></item><item><term>DYT16</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2008-12-20">Received</change><change when="2009-03-27">Registration</change><change when="2009-07-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/4FB5099F9D4B632F59D9FEE8677FFE29D2542D09/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="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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We investigated whether writer's cramp as presenting symptom is associated with mutations in <i>DYT11</i>, <i>DYT16</i>, or with the <i>DYT1</i> GAG deletion in 43 patients. No <i>DYT11</i> and <i>DYT16</i> mutations were identified. One patient carried the GAG deletion in the <i>DYT1</i> gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in <i>DYT11</i>, <i>DYT16</i>, but it can be the sole manifestation of <i>DYT1</i> GAG deletion mutation carriers. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: Nothing to report.</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>Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Writer's Cramp—An Association Study</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Screening for dystonia genes</title></titleInfo><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Ritz</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</affiliation><affiliation>Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><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 Centre, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jose J.M.</namePart><namePart type="family">Kruisdijk</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Academic Medical Centre, 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>Neurogenetic Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johannes H.T.M.</namePart><namePart type="family">Koelman</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marina A.J.</namePart><namePart type="family">Tijssen</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Academic Medical Centre, 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">2009-07-15</dateIssued><dateCaptured encoding="w3cdtf">2008-12-20</dateCaptured><dateValid encoding="w3cdtf">2009-03-27</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="tables">1</extent><extent unit="references">7</extent><extent unit="words">1684</extent></physicalDescription><abstract lang="en">Task‐specific focal upper limb dystonia can be part of the phenotypic spectrum of different types of hereditary dystonia. We investigated whether writer's cramp as presenting symptom is associated with mutations in DYT11, DYT16, or with the DYT1 GAG deletion in 43 patients. No DYT11 and DYT16 mutations were identified. One patient carried the GAG deletion in the DYT1 gene. In our cohort, writer's cramp as presenting symptom is not associated with mutations in DYT11, DYT16, but it can be the sole manifestation of DYT1 GAG deletion mutation carriers. © 2009 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: Nothing to report.</note><note type="funding">Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO)</note><note type="funding">VIDI - No. 016.056.333; </note><subject lang="en"><genre>Keywords</genre><topic>writer's cramp</topic><topic>DYT1</topic><topic>DYT11</topic><topic>DYT16</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>9</number></detail><extent unit="pages"><start>1390</start><end>1392</end><total>3</total></extent></part></relatedItem><identifier type="istex">4FB5099F9D4B632F59D9FEE8677FFE29D2542D09</identifier><identifier type="DOI">10.1002/mds.22632</identifier><identifier type="ArticleID">MDS22632</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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