A case of dysferlinopathy presenting choreic movements
Identifieur interne : 003653 ( Istex/Corpus ); précédent : 003652; suivant : 003654A case of dysferlinopathy presenting choreic movements
Auteurs : Toshiaki Takahashi ; Masashi Aoki ; Takashi Imai ; Masaru Yoshioka ; Hidehiko Konno ; Shuichi Higano ; Yoshiaki Onodera ; Hiroshi Saito ; Itaru Kimura ; Yasuto ItoyamaSource :
- Movement Disorders [ 0885-3185 ] ; 2006-09.
English descriptors
Abstract
Mutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21027
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ISTEX:0FBB58D583A2CCF9CC421E988AC85991334D7815Le document en format XML
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uniqKey="Konno H" first="Hidehiko" last="Konno">Hidehiko Konno</name><affiliation><mods:affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</mods:affiliation></affiliation></author><author><name sortKey="Higano, Shuichi" sort="Higano, Shuichi" uniqKey="Higano S" first="Shuichi" last="Higano">Shuichi Higano</name><affiliation><mods:affiliation>Department of Radiology, Tohoku University School of Medicine, Sendai, Japan</mods:affiliation></affiliation></author><author><name sortKey="Onodera, Yoshiaki" sort="Onodera, Yoshiaki" uniqKey="Onodera Y" first="Yoshiaki" last="Onodera">Yoshiaki Onodera</name><affiliation><mods:affiliation>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</mods:affiliation></affiliation></author><author><name sortKey="Saito, Hiroshi" sort="Saito, Hiroshi" uniqKey="Saito H" first="Hiroshi" last="Saito">Hiroshi Saito</name><affiliation><mods:affiliation>Department of Neurology 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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="2006-09">2006-09</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1513">1513</biblScope><biblScope unit="page" to="1515">1515</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0FBB58D583A2CCF9CC421E988AC85991334D7815</idno><idno type="DOI">10.1002/mds.21027</idno><idno type="ArticleID">MDS21027</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>chorea</term><term>dysferlin</term><term>limb–girdle muscular dystrophy type 2B</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Toshiaki Takahashi MD</name><affiliations><json:string>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Masashi Aoki MD</name><affiliations><json:string>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Takashi Imai MD</name><affiliations><json:string>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Masaru Yoshioka MD</name><affiliations><json:string>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Hidehiko Konno MD</name><affiliations><json:string>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Shuichi Higano MD</name><affiliations><json:string>Department of Radiology, Tohoku University School of Medicine, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Yoshiaki Onodera PhD</name><affiliations><json:string>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Hiroshi Saito MD</name><affiliations><json:string>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Itaru Kimura MD</name><affiliations><json:string>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</json:string></affiliations></json:item><json:item><name>Yasuto Itoyama MD</name><affiliations><json:string>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>dysferlin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>limb–girdle muscular dystrophy type 2B</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>chorea</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Mutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 2006 Movement Disorder Society</abstract><qualityIndicators><score>2.95</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>536</abstractCharCount><pdfWordCount>1990</pdfWordCount><pdfCharCount>12981</pdfCharCount><pdfPageCount>3</pdfPageCount><abstractWordCount>80</abstractWordCount></qualityIndicators><title>A case of dysferlinopathy presenting choreic movements</title><genre><json:string>Serial article</json:string></genre><host><volume>21</volume><pages><total>2</total><last>1515</last><first>1513</first></pages><issn><json:string>0885-3185</json:string></issn><issue>9</issue><subject><json:item><value>Brief Report</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>2006</publicationDate><copyrightDate>2006</copyrightDate><doi><json:string>10.1002/mds.21027</json:string></doi><id>0FBB58D583A2CCF9CC421E988AC85991334D7815</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/0FBB58D583A2CCF9CC421E988AC85991334D7815/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/0FBB58D583A2CCF9CC421E988AC85991334D7815/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/0FBB58D583A2CCF9CC421E988AC85991334D7815/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">A case of dysferlinopathy presenting choreic movements</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>2006</date></publicationStmt><notesStmt><note>Ministry of Health, Labour and Welfare</note><note>Japan Society for the Promotion of Science - No. C: 15590876; No. C: 17590857;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">A case of dysferlinopathy presenting choreic movements</title><author><persName><forename type="first">Toshiaki</forename><surname>Takahashi</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation></author><author><persName><forename type="first">Masashi</forename><surname>Aoki</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology, Tohoku University School of Medicine, 1‐1 Seiryo‐machi, Sendai 980‐8574, Japan</p></note><affiliation>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</affiliation></author><author><persName><forename type="first">Takashi</forename><surname>Imai</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation></author><author><persName><forename type="first">Masaru</forename><surname>Yoshioka</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation></author><author><persName><forename type="first">Hidehiko</forename><surname>Konno</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation></author><author><persName><forename type="first">Shuichi</forename><surname>Higano</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Radiology, Tohoku University School of Medicine, Sendai, Japan</affiliation></author><author><persName><forename type="first">Yoshiaki</forename><surname>Onodera</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</affiliation></author><author><persName><forename type="first">Hiroshi</forename><surname>Saito</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation></author><author><persName><forename type="first">Itaru</forename><surname>Kimura</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation></author><author><persName><forename type="first">Yasuto</forename><surname>Itoyama</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</affiliation></author></analytic><monogr><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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It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 2006 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>dysferlin</term></item><item><term>limb–girdle muscular dystrophy type 2B</term></item><item><term>chorea</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="2005-06-17">Received</change><change when="2005-10-24">Registration</change><change when="2006-09">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/0FBB58D583A2CCF9CC421E988AC85991334D7815/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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type="organization"><unparsedAffiliation>Department of Radiology, Tohoku University School of Medicine, Sendai, Japan</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">dysferlin</keyword><keyword xml:id="kwd2">limb–girdle muscular dystrophy type 2B</keyword><keyword xml:id="kwd3">chorea</keyword></keywordGroup><fundingInfo><fundingAgency>Ministry of Health, Labour and Welfare</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Japan Society for the Promotion of Science</fundingAgency><fundingNumber>C: 15590876</fundingNumber><fundingNumber>C: 17590857</fundingNumber></fundingInfo><supportingInformation><p> This article includes Supplementary Video, available online at <url href="http://www.interscience.wiley.com/jpages/0885-3185/suppmat"> http://www.interscience.wiley.com/jpages/0885‐3185/suppmat </url></p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds21027:jws-mds"></mediaResource><caption> The patient is calculating and reporting the answer. There are choreiform movements of the limb, which are more marked in the left foot than in the right. </caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Mutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 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>A case of dysferlinopathy presenting choreic movements</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Dysferlinopathy And Choreic Movements</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>A case of dysferlinopathy presenting choreic movements</title></titleInfo><name type="personal"><namePart type="given">Toshiaki</namePart><namePart type="family">Takahashi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Masashi</namePart><namePart type="family">Aoki</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</affiliation><description>Correspondence: Department of Neurology, Tohoku University School of Medicine, 1‐1 Seiryo‐machi, Sendai 980‐8574, Japan</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Takashi</namePart><namePart type="family">Imai</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Masaru</namePart><namePart type="family">Yoshioka</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hidehiko</namePart><namePart type="family">Konno</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shuichi</namePart><namePart type="family">Higano</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Radiology, Tohoku University School of Medicine, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yoshiaki</namePart><namePart type="family">Onodera</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hiroshi</namePart><namePart type="family">Saito</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Itaru</namePart><namePart type="family">Kimura</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology and Division of Clinical Research, Nishitaga National Hospital, Sendai, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yasuto</namePart><namePart type="family">Itoyama</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Tohoku University School of Medicine, Sendai, Japan</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">2006-09</dateIssued><dateCaptured encoding="w3cdtf">2005-06-17</dateCaptured><dateValid encoding="w3cdtf">2005-10-24</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="figures">1</extent><extent unit="references">10</extent><extent unit="words">1375</extent></physicalDescription><abstract lang="en">Mutations in the dysferlin gene cause limb–girdle muscular dystrophy type 2B (LGMD2B). The involvement of the central nervous system in dysferlinopathy has not been described. We describe the clinical features of a patient with LGMD2B associated with dysferlin mutations (homozygous G3370T) who presented progressive choreic movements. The patient had no evidence of other causes of chorea. It is suggested that the chorea may be associated with the altered expression of the brain isoform of dysferlin. © 2006 Movement Disorder Society</abstract><note type="funding">Ministry of Health, Labour and Welfare</note><note type="funding">Japan Society for the Promotion of Science - No. C: 15590876; No. C: 17590857; </note><subject lang="en"><genre>Keywords</genre><topic>dysferlin</topic><topic>limb–girdle muscular dystrophy type 2B</topic><topic>chorea</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"> This article includes Supplementary Video, available online at http://www.interscience.wiley.com/jpages/0885‐3185/suppmatSupporting Info Item: The patient is calculating and reporting the answer. There are choreiform movements of the limb, which are more marked in the left foot than in the right. - </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>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>1513</start><end>1515</end><total>2</total></extent></part></relatedItem><identifier type="istex">0FBB58D583A2CCF9CC421E988AC85991334D7815</identifier><identifier type="DOI">10.1002/mds.21027</identifier><identifier type="ArticleID">MDS21027</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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