Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause
Identifieur interne : 002E02 ( Istex/Corpus ); précédent : 002E01; suivant : 002E03Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause
Auteurs : Peter Bauer ; Friedmar R. Kreuz ; Katrin Bürk ; Carsten Saft ; Jürgen Andrich ; Hubert Heilemann ; Olaf Riess ; Ludger SchölsSource :
- Movement Disorders [ 0885-3185 ] ; 2006-10.
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Abstract
Benign hereditary chorea (BHC; OMIM 118700) is an autosomal dominant movement disorder. Mutations in the thyroid transcription factor 1 (TITF1) gene have been linked with BHC. The phenotype for BHC is highly variable and may include atypical features such as dystonia, slow saccades, and even cognitive deficits. Although BHC is commonly transmitted in a dominant manner, assessment of TITF1 mutations in familial or sporadic patients with late‐onset nonprogressive or early‐onset progressive chorea is of practical relevance in order to evaluate diagnostic strategies in single patients. In this study, 18 patients with chorea of unknown cause including index patients of three families with autosomal dominantly inherited nonprogressive chorea have been screened for TITF1 mutations by means of denaturating high‐pressure liquid chromatography (dHPLC). No sequence variations were detected for the complete open reading frame, suggesting that TITF1 mutations are not a common cause of sporadic or familial chorea of unknown cause. Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.21031
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ISTEX:AF305F23561A731699E5076276F38D1AE62ADBD3Le document en format XML
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Mutations in the thyroid transcription factor 1 (TITF1) gene have been linked with BHC. The phenotype for BHC is highly variable and may include atypical features such as dystonia, slow saccades, and even cognitive deficits. Although BHC is commonly transmitted in a dominant manner, assessment of TITF1 mutations in familial or sporadic patients with late‐onset nonprogressive or early‐onset progressive chorea is of practical relevance in order to evaluate diagnostic strategies in single patients. In this study, 18 patients with chorea of unknown cause including index patients of three families with autosomal dominantly inherited nonprogressive chorea have been screened for TITF1 mutations by means of denaturating high‐pressure liquid chromatography (dHPLC). No sequence variations were detected for the complete open reading frame, suggesting that TITF1 mutations are not a common cause of sporadic or familial chorea of unknown cause. Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Peter Bauer MD</name><affiliations><json:string>Medical Genetics, University of Tübingen, Tübingen, Germany</json:string></affiliations></json:item><json:item><name>Friedmar R. Kreuz MD</name><affiliations><json:string>Institute of Human Genetics, University of Dresden, Dresden, Germany</json:string></affiliations></json:item><json:item><name>Katrin Bürk MD</name><affiliations><json:string>Department of Neurology, University of Ulm, Ulm, Germany</json:string></affiliations></json:item><json:item><name>Carsten Saft MD</name><affiliations><json:string>Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany</json:string></affiliations></json:item><json:item><name>Jürgen Andrich MD</name><affiliations><json:string>Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany</json:string></affiliations></json:item><json:item><name>Hubert Heilemann MD</name><affiliations><json:string>Saxonian Hospital Arnsdorf, Arnsdorf, Germany</json:string></affiliations></json:item><json:item><name>Olaf Riess MD</name><affiliations><json:string>Medical Genetics, University of Tübingen, Tübingen, Germany</json:string></affiliations></json:item><json:item><name>Ludger Schöls MD</name><affiliations><json:string>Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>benign chorea</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>TITF1</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mutation screening</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Benign hereditary chorea (BHC; OMIM 118700) is an autosomal dominant movement disorder. Mutations in the thyroid transcription factor 1 (TITF1) gene have been linked with BHC. The phenotype for BHC is highly variable and may include atypical features such as dystonia, slow saccades, and even cognitive deficits. Although BHC is commonly transmitted in a dominant manner, assessment of TITF1 mutations in familial or sporadic patients with late‐onset nonprogressive or early‐onset progressive chorea is of practical relevance in order to evaluate diagnostic strategies in single patients. In this study, 18 patients with chorea of unknown cause including index patients of three families with autosomal dominantly inherited nonprogressive chorea have been screened for TITF1 mutations by means of denaturating high‐pressure liquid chromatography (dHPLC). No sequence variations were detected for the complete open reading frame, suggesting that TITF1 mutations are not a common cause of sporadic or familial chorea of unknown cause. 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Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea. © 2006 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>benign chorea</term></item><item><term>TITF1</term></item><item><term>mutation screening</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="2004-07-05">Received</change><change when="2005-12-05">Registration</change><change when="2006-10">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/AF305F23561A731699E5076276F38D1AE62ADBD3/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. 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type="main">Abstract</title><p>Benign hereditary chorea (BHC; OMIM 118700) is an autosomal dominant movement disorder. Mutations in the thyroid transcription factor 1 (TITF1) gene have been linked with BHC. The phenotype for BHC is highly variable and may include atypical features such as dystonia, slow saccades, and even cognitive deficits. Although BHC is commonly transmitted in a dominant manner, assessment of <i>TITF1</i> mutations in familial or sporadic patients with late‐onset nonprogressive or early‐onset progressive chorea is of practical relevance in order to evaluate diagnostic strategies in single patients. In this study, 18 patients with chorea of unknown cause including index patients of three families with autosomal dominantly inherited nonprogressive chorea have been screened for <i>TITF1</i> mutations by means of denaturating high‐pressure liquid chromatography (dHPLC). No sequence variations were detected for the complete open reading frame, suggesting that <i>TITF1</i> mutations are not a common cause of sporadic or familial chorea of unknown cause. Additionally, linkage analysis excluded <i>TITF1</i> mutations in a large family with benign hereditary chorea. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>TITF1 Mutations</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Mutations in</title></titleInfo><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Bauer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Medical Genetics, University of Tübingen, Tübingen, Germany</affiliation><description>Correspondence: Department of Medical Genetics, University of Tübingen, Calwerstrasse 7, D 72076 Tübingen, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Friedmar R.</namePart><namePart type="family">Kreuz</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, University of Dresden, Dresden, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katrin</namePart><namePart type="family">Bürk</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Ulm, Ulm, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carsten</namePart><namePart type="family">Saft</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jürgen</namePart><namePart type="family">Andrich</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hubert</namePart><namePart type="family">Heilemann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Saxonian Hospital Arnsdorf, Arnsdorf, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Olaf</namePart><namePart type="family">Riess</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Medical Genetics, University of Tübingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ludger</namePart><namePart type="family">Schöls</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation><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">2006-10</dateIssued><dateCaptured encoding="w3cdtf">2004-07-05</dateCaptured><dateValid encoding="w3cdtf">2005-12-05</dateValid><copyrightDate encoding="w3cdtf">2006</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">2</extent><extent unit="references">6</extent><extent unit="words">2281</extent></physicalDescription><abstract lang="en">Benign hereditary chorea (BHC; OMIM 118700) is an autosomal dominant movement disorder. Mutations in the thyroid transcription factor 1 (TITF1) gene have been linked with BHC. The phenotype for BHC is highly variable and may include atypical features such as dystonia, slow saccades, and even cognitive deficits. Although BHC is commonly transmitted in a dominant manner, assessment of TITF1 mutations in familial or sporadic patients with late‐onset nonprogressive or early‐onset progressive chorea is of practical relevance in order to evaluate diagnostic strategies in single patients. In this study, 18 patients with chorea of unknown cause including index patients of three families with autosomal dominantly inherited nonprogressive chorea have been screened for TITF1 mutations by means of denaturating high‐pressure liquid chromatography (dHPLC). No sequence variations were detected for the complete open reading frame, suggesting that TITF1 mutations are not a common cause of sporadic or familial chorea of unknown cause. Additionally, linkage analysis excluded TITF1 mutations in a large family with benign hereditary chorea. © 2006 Movement Disorder Society</abstract><note type="funding">German Network of Hereditary Movement Disorders (GeNeMove)</note><note type="funding">German Federal Ministry of Education and Research (BMBF)</note><subject lang="en"><genre>Keywords</genre><topic>benign chorea</topic><topic>TITF1</topic><topic>mutation screening</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></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>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>1734</start><end>1737</end><total>4</total></extent></part></relatedItem><identifier type="istex">AF305F23561A731699E5076276F38D1AE62ADBD3</identifier><identifier type="DOI">10.1002/mds.21031</identifier><identifier type="ArticleID">MDS21031</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 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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