Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation
Identifieur interne : 001A18 ( Istex/Corpus ); précédent : 001A17; suivant : 001A19Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation
Auteurs : Mi J. Kim ; Sang R. Jeon ; Han-Wook Yoo ; Gu-Hwan Kim ; Myoung C. Lee ; Sun J. ChungSource :
- Movement Disorders [ 0885-3185 ] ; 2008-11-15.
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Abstract
We report the clinical and molecular features of a family with focal hand dystonia caused by DYT1 mutation. Four members of a family who underwent thalamotomy showed a marked and sustained therapeutic benefit that lasted for up to 12 years without recurrence of dystonia or any significant surgical complication. The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22337
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Four members of a family who underwent thalamotomy showed a marked and sustained therapeutic benefit that lasted for up to 12 years without recurrence of dystonia or any significant surgical complication. The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy. © 2008 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Mi J. Kim MD</name><affiliations><json:string>Center for Parkinsonism and Other Movement Disorders, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</json:string></affiliations></json:item><json:item><name>Sang R. Jeon MD</name><affiliations><json:string>Center for Parkinsonism and Other Movement Disorders, Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</json:string></affiliations></json:item><json:item><name>Han‐Wook Yoo MD</name><affiliations><json:string>Genome Research Center for Birth Defects & Genetic Disorders, Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</json:string></affiliations></json:item><json:item><name>Gu‐Hwan Kim PhD</name><affiliations><json:string>Genome Research Center for Birth Defects & Genetic Disorders, Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</json:string></affiliations></json:item><json:item><name>Myoung C. 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Four members of a family who underwent thalamotomy showed a marked and sustained therapeutic benefit that lasted for up to 12 years without recurrence of dystonia or any significant surgical complication. 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The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy. © 2008 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>dystonia</term></item><item><term>thalamotomy</term></item><item><term>DYT1</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="2008-04-15">Received</change><change when="2008-08-30">Registration</change><change when="2008-11-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/5815CE3979D94BAD9B3B90AD7905A1B23000350D/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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href="file:MDS.MDS22337.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="2"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="29"></count><count type="wordTotal" number="3344"></count></countGroup><titleGroup><title type="main" xml:lang="en">Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation<link href="#fn1"></link></title><title type="short" xml:lang="en">Effect of Thalamotomy on Focal Hand Dystonia</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Mi J.</givenNames><familyName>Kim</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Sang R.</givenNames><familyName>Jeon</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Han‐Wook</givenNames><familyName>Yoo</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Gu‐Hwan</givenNames><familyName>Kim</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Myoung C.</givenNames><familyName>Lee</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Sun J.</givenNames><familyName>Chung</familyName><degrees>MD</degrees></personName><contactDetails><email>sjchung@amc.seoul.kr</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="KR" type="organization"><unparsedAffiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="KR" type="organization"><unparsedAffiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="KR" type="organization"><unparsedAffiliation>Genome Research Center for Birth Defects & Genetic Disorders, Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">dystonia</keyword><keyword xml:id="kwd2">thalamotomy</keyword><keyword xml:id="kwd3">DYT1</keyword></keywordGroup><fundingInfo><fundingAgency>Korean Ministry of Health and Welfare</fundingAgency><fundingNumber>01‐PJ10‐PG6‐01GN15‐0001</fundingNumber></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:mds22337:MDS_22337_sm_SuppFigure1"></mediaResource><caption>Supporting Information Figure 1. The results of mutation analysis of DYT1 gene. Family members, II:5, III:1, and III:4, revealed the presence of the GAG deletion. (A) The electrogram of heteroduplex assay. Abnormal shift bands in mutants are indicated by arrows. Bold letter indicated the affected. (B) Sequence analysis of the patient III:4. The GAG deletion site is indicated with bold underline and arrow. Normal control is shown in upper panel. Mutant allele, which mixed sequence with normal allele, is shown in lower panel for a patient.</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We report the clinical and molecular features of a family with focal hand dystonia caused by DYT1 mutation. Four members of a family who underwent thalamotomy showed a marked and sustained therapeutic benefit that lasted for up to 12 years without recurrence of dystonia or any significant surgical complication. The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy. © 2008 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Potential conflict of interest: None reported.</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>Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Effect of Thalamotomy on Focal Hand Dystonia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation</title></titleInfo><name type="personal"><namePart type="given">Mi J.</namePart><namePart type="family">Kim</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sang R.</namePart><namePart type="family">Jeon</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurological Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Han‐Wook</namePart><namePart type="family">Yoo</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Genome Research Center for Birth Defects & Genetic Disorders, Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gu‐Hwan</namePart><namePart type="family">Kim</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Genome Research Center for Birth Defects & Genetic Disorders, Medical Genetics Clinic & Laboratory, Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Myoung C.</namePart><namePart type="family">Lee</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sun J.</namePart><namePart type="family">Chung</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Parkinsonism and Other Movement Disorders, Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea</affiliation><description>Correspondence: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, 388‐1, Poongnap‐dong, Songpa‐gu, Seoul 138‐736, South 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">2008-11-15</dateIssued><dateCaptured encoding="w3cdtf">2008-04-15</dateCaptured><dateValid encoding="w3cdtf">2008-08-30</dateValid><copyrightDate encoding="w3cdtf">2008</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="tables">1</extent><extent unit="references">29</extent><extent unit="words">3344</extent></physicalDescription><abstract lang="en">We report the clinical and molecular features of a family with focal hand dystonia caused by DYT1 mutation. Four members of a family who underwent thalamotomy showed a marked and sustained therapeutic benefit that lasted for up to 12 years without recurrence of dystonia or any significant surgical complication. The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy. © 2008 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: None reported.</note><note type="funding">Korean Ministry of Health and Welfare - No. 01‐PJ10‐PG6‐01GN15‐0001; </note><subject lang="en"><genre>Keywords</genre><topic>dystonia</topic><topic>thalamotomy</topic><topic>DYT1</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"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supporting Information Figure 1. The results of mutation analysis of DYT1 gene. Family members, II:5, III:1, and III:4, revealed the presence of the GAG deletion. (A) The electrogram of heteroduplex assay. Abnormal shift bands in mutants are indicated by arrows. Bold letter indicated the affected. (B) Sequence analysis of the patient III:4. The GAG deletion site is indicated with bold underline and arrow. Normal control is shown in upper panel. Mutant allele, which mixed sequence with normal allele, is shown in lower panel for a patient. - </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>2008</date><detail type="volume"><caption>vol.</caption><number>23</number></detail><detail type="issue"><caption>no.</caption><number>15</number></detail><extent unit="pages"><start>2251</start><end>2255</end><total>6</total></extent></part></relatedItem><identifier type="istex">5815CE3979D94BAD9B3B90AD7905A1B23000350D</identifier><identifier type="DOI">10.1002/mds.22337</identifier><identifier type="ArticleID">MDS22337</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 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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