Responsiveness to levodopa in epsilon‐sarcoglycan deletions
Identifieur interne : 002005 ( Istex/Corpus ); précédent : 002004; suivant : 002006Responsiveness to levodopa in epsilon‐sarcoglycan deletions
Auteurs : Marta San Luciano ; Laurie Ozelius ; Katherine Sims ; Deborah Raymond ; Liu Liu ; Rachel Saunders-PullmanSource :
- Movement Disorders [ 0885-3185 ] ; 2009-02-15.
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Abstract
Myoclonus‐dystonia (M‐D) is characterized by early‐onset myoclonus and dystonia, and is often due to mutations in the epsilon‐sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M‐D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M‐D due to SCGE deletions who displayed a robust and sustained response to levodopa (L‐dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L‐dopa may be considered in patients with myoclonus‐dystonia. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.22375
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ISTEX:B5C64913C29788338EFC4518FE53230B02A7AD8CLe document en format XML
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first="Laurie" last="Ozelius">Laurie Ozelius</name><affiliation><mods:affiliation>Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Sims, Katherine" sort="Sims, Katherine" uniqKey="Sims K" first="Katherine" last="Sims">Katherine Sims</name><affiliation><mods:affiliation>Department of Pediatric Neurology and Neurogenetics, Massachusetts General Hospital, Boston, Massachusetts, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah 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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="2009-02-15">2009-02-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="425">425</biblScope><biblScope unit="page" to="428">428</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B5C64913C29788338EFC4518FE53230B02A7AD8C</idno><idno type="DOI">10.1002/mds.22375</idno><idno type="ArticleID">MDS22375</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Epsilon‐Sarcoglycan</term><term>Levodopa</term><term>dystonia</term><term>myoclonus</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Myoclonus‐dystonia (M‐D) is characterized by early‐onset myoclonus and dystonia, and is often due to mutations in the epsilon‐sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M‐D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M‐D due to SCGE deletions who displayed a robust and sustained response to levodopa (L‐dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L‐dopa may be considered in patients with myoclonus‐dystonia. © 2008 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Marta San Luciano MD</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Laurie Ozelius PhD</name><affiliations><json:string>Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Katherine Sims MD</name><affiliations><json:string>Department of Pediatric Neurology and Neurogenetics, Massachusetts General Hospital, Boston, Massachusetts, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Deborah Raymond MS</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Liu Liu PhD</name><affiliations><json:string>Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Rachel Saunders‐Pullman MD</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string><json:string>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>myoclonus</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Epsilon‐Sarcoglycan</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Levodopa</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Myoclonus‐dystonia (M‐D) is characterized by early‐onset myoclonus and dystonia, and is often due to mutations in the epsilon‐sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M‐D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M‐D due to SCGE deletions who displayed a robust and sustained response to levodopa (L‐dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L‐dopa may be considered in patients with myoclonus‐dystonia. © 2008 Movement Disorder Society</abstract><qualityIndicators><score>5.234</score><pdfVersion>1.6</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>670</abstractCharCount><pdfWordCount>2558</pdfWordCount><pdfCharCount>16892</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>98</abstractWordCount></qualityIndicators><title>Responsiveness to levodopa in epsilon‐sarcoglycan deletions</title><genre><json:string>Serial article</json:string></genre><host><volume>24</volume><pages><total>4</total><last>428</last><first>425</first></pages><issn><json:string>0885-3185</json:string></issn><issue>3</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>2009</publicationDate><copyrightDate>2009</copyrightDate><doi><json:string>10.1002/mds.22375</json:string></doi><id>B5C64913C29788338EFC4518FE53230B02A7AD8C</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/B5C64913C29788338EFC4518FE53230B02A7AD8C/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/B5C64913C29788338EFC4518FE53230B02A7AD8C/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/B5C64913C29788338EFC4518FE53230B02A7AD8C/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Responsiveness to levodopa in epsilon‐sarcoglycan deletions</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>2009</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: None reported.</note><note>National Institute of Neurological Disorders and Stroke - 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The pathogenesis of M‐D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M‐D due to SCGE deletions who displayed a robust and sustained response to levodopa (L‐dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L‐dopa may be considered in patients with myoclonus‐dystonia. © 2008 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>myoclonus</term></item><item><term>dystonia</term></item><item><term>Epsilon‐Sarcoglycan</term></item><item><term>Levodopa</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="2008-05-22">Received</change><change when="2008-10-08">Registration</change><change when="2009-02-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/B5C64913C29788338EFC4518FE53230B02A7AD8C/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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Neurological Disorders and Stroke</fundingAgency><fundingNumber>K23NS047256</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Institutes of Health</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Foundation for Parkinson's Research</fundingAgency></fundingInfo><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Myoclonus‐dystonia (M‐D) is characterized by early‐onset myoclonus and dystonia, and is often due to mutations in the epsilon‐sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M‐D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M‐D due to SCGE deletions who displayed a robust and sustained response to levodopa (<sc>L</sc>‐dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of <sc>L</sc>‐dopa may be considered in patients with myoclonus‐dystonia. © 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>Responsiveness to levodopa in epsilon‐sarcoglycan deletions</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Levodopa in Epsilon‐Sarcoglycan Deletions</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Responsiveness to levodopa in epsilon‐sarcoglycan deletions</title></titleInfo><name type="personal"><namePart type="given">Marta San</namePart><namePart type="family">Luciano</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurie</namePart><namePart type="family">Ozelius</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katherine</namePart><namePart type="family">Sims</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Pediatric Neurology and Neurogenetics, Massachusetts General Hospital, Boston, Massachusetts, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Deborah</namePart><namePart type="family">Raymond</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Liu</namePart><namePart type="family">Liu</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Genetics and Genomic Science, Mount Sinai School of Medicine, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Rachel</namePart><namePart type="family">Saunders‐Pullman</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><affiliation>Department of Neurology, Albert Einstein College of Medicine, New York, New York, USA</affiliation><description>Correspondence: Department of Neurology, Albert Einstein College of Medicine, Beth Israel Medical Center, 10 Union Sq East, Suite 2Q, New York, NY 10003</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">2009-02-15</dateIssued><dateCaptured encoding="w3cdtf">2008-05-22</dateCaptured><dateValid encoding="w3cdtf">2008-10-08</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="references">24</extent><extent unit="words">2438</extent></physicalDescription><abstract lang="en">Myoclonus‐dystonia (M‐D) is characterized by early‐onset myoclonus and dystonia, and is often due to mutations in the epsilon‐sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M‐D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M‐D due to SCGE deletions who displayed a robust and sustained response to levodopa (L‐dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial of L‐dopa may be considered in patients with myoclonus‐dystonia. © 2008 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: None reported.</note><note type="funding">National Institute of Neurological Disorders and Stroke - No. K23NS047256; </note><note type="funding">National Institutes of Health</note><note type="funding">Foundation for Parkinson's Research</note><subject lang="en"><genre>Keywords</genre><topic>myoclonus</topic><topic>dystonia</topic><topic>Epsilon‐Sarcoglycan</topic><topic>Levodopa</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.</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>2009</date><detail type="volume"><caption>vol.</caption><number>24</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>425</start><end>428</end><total>4</total></extent></part></relatedItem><identifier type="istex">B5C64913C29788338EFC4518FE53230B02A7AD8C</identifier><identifier type="DOI">10.1002/mds.22375</identifier><identifier type="ArticleID">MDS22375</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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