The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm
Identifieur interne : 001A85 ( Main/Corpus ); précédent : 001A84; suivant : 001A86The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm
Auteurs : Giovanni Defazio ; Mar Matarin ; Elizabeth L. Peckham ; Davide Martino ; Enza M. Valente ; Andrew Singleton ; Anthony Crawley ; Maria Stella Aniello ; Francesco Brancati ; Giovanni Abbruzzese ; Paolo Girlanda ; Paolo Livrea ; Mark Hallett ; Alfredo BerardelliSource :
- Movement Disorders [ 0885-3185 ] ; 2009-03-15.
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Abstract
We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22471
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Valente</name><affiliation><mods:affiliation>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</mods:affiliation></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation><mods:affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Crawley, Anthony" sort="Crawley, Anthony" uniqKey="Crawley A" first="Anthony" last="Crawley">Anthony Crawley</name><affiliation><mods:affiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Aniello, Maria Stella" sort="Aniello, Maria Stella" uniqKey="Aniello M" first="Maria Stella" last="Aniello">Maria Stella Aniello</name><affiliation><mods:affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</mods:affiliation></affiliation></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><affiliation><mods:affiliation>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</mods:affiliation></affiliation></author><author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name><affiliation><mods:affiliation>Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Italy</mods:affiliation></affiliation></author><author><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name><affiliation><mods:affiliation>Department of Neurosciences, Psychiatry, and Anesthesiology, University of Messina, Italy</mods:affiliation></affiliation></author><author><name sortKey="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name><affiliation><mods:affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</mods:affiliation></affiliation></author><author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><affiliation><mods:affiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</mods:affiliation></affiliation></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><affiliation><mods:affiliation>Department of Neurological Sciences and NEUROMED Institute, “Sapienza” University, Rome, Italy</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. 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="2009-03-15">2009-03-15</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="613">613</biblScope><biblScope unit="page" to="616">616</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252</idno><idno type="DOI">10.1002/mds.22471</idno><idno type="ArticleID">MDS22471</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>TOR1A</term><term>blepharospasm</term><term>dystonia</term><term>primary adult‐onset</term><term>single‐nucleotide polymorphisms</term><term>spread</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Giovanni Defazio MD</name><affiliations><json:string>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</json:string></affiliations></json:item><json:item><name>Mar Matarin PhD</name><affiliations><json:string>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Elizabeth L. Peckham DO</name><affiliations><json:string>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Davide Martino PhD</name><affiliations><json:string>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</json:string></affiliations></json:item><json:item><name>Enza M. Valente PhD</name><affiliations><json:string>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</json:string></affiliations></json:item><json:item><name>Andrew Singleton PhD</name><affiliations><json:string>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Anthony Crawley BS</name><affiliations><json:string>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Maria Stella Aniello MD</name><affiliations><json:string>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</json:string></affiliations></json:item><json:item><name>Francesco Brancati PhD</name><affiliations><json:string>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</json:string></affiliations></json:item><json:item><name>Giovanni Abbruzzese MD</name><affiliations><json:string>Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Italy</json:string></affiliations></json:item><json:item><name>Paolo Girlanda MD</name><affiliations><json:string>Department of Neurosciences, Psychiatry, and Anesthesiology, University of Messina, Italy</json:string></affiliations></json:item><json:item><name>Paolo Livrea MD</name><affiliations><json:string>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</json:string></affiliations></json:item><json:item><name>Mark Hallett MD</name><affiliations><json:string>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</json:string></affiliations></json:item><json:item><name>Alfredo Berardelli MD</name><affiliations><json:string>Department of Neurological Sciences and NEUROMED Institute, “Sapienza” University, Rome, Italy</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>TOR1A</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>single‐nucleotide polymorphisms</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>blepharospasm</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>primary adult‐onset</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>spread</value></json:item></subject><articleId><json:string>MDS22471</json:string></articleId><language><json:string>eng</json:string></language><abstract>We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society</abstract><qualityIndicators><score>6.464</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>774</abstractCharCount><pdfWordCount>7577</pdfWordCount><pdfCharCount>47609</pdfCharCount><pdfPageCount>12</pdfPageCount><abstractWordCount>122</abstractWordCount></qualityIndicators><title>The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm</title><genre><json:string>article</json:string></genre><host><volume>24</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>5</total><last>616</last><first>613</first></pages><issn><json:string>0885-3185</json:string></issn><issue>4</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><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.22471</json:string></doi><id>C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2009</date></publicationStmt><notesStmt><note type="content">*Potential conflict of interest: None reported.</note><note>Comitato Promotore Telethon, Italy - No. GGP05165;</note><note>Benign Essential Blepharospasm Research Foundation, Beaumont, TX, USA</note><note>Intramural Research Programs of the National Institute on Aging</note><note>National Institute of Neurological Disorders and Stroke</note><note>National Institutes of Health: Department of Health and Human Service, Bethesda, MD, USA - No. project number Z01 AG000957‐05;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm</title><author><persName><forename type="first">Giovanni</forename><surname>Defazio</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Department of Neurological and Psychiatric Sciences, University of Bari, Policlinico, Piazza Giulio Cesare 1 70124 Bari, Italy</p></note><affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</affiliation></author><author><persName><forename type="first">Mar</forename><surname>Matarin</surname></persName><roleName type="degree">PhD</roleName><affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Elizabeth L.</forename><surname>Peckham</surname></persName><roleName type="degree">DO</roleName><affiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Davide</forename><surname>Martino</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</affiliation></author><author><persName><forename type="first">Enza M.</forename><surname>Valente</surname></persName><roleName type="degree">PhD</roleName><affiliation>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation></author><author><persName><forename type="first">Andrew</forename><surname>Singleton</surname></persName><roleName type="degree">PhD</roleName><affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Anthony</forename><surname>Crawley</surname></persName><roleName type="degree">BS</roleName><affiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Maria Stella</forename><surname>Aniello</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</affiliation></author><author><persName><forename type="first">Francesco</forename><surname>Brancati</surname></persName><roleName type="degree">PhD</roleName><affiliation>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation></author><author><persName><forename type="first">Giovanni</forename><surname>Abbruzzese</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Italy</affiliation></author><author><persName><forename type="first">Paolo</forename><surname>Girlanda</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurosciences, Psychiatry, and Anesthesiology, University of Messina, Italy</affiliation></author><author><persName><forename type="first">Paolo</forename><surname>Livrea</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</affiliation></author><author><persName><forename type="first">Mark</forename><surname>Hallett</surname></persName><roleName type="degree">MD</roleName><affiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</affiliation></author><author><persName><forename type="first">Alfredo</forename><surname>Berardelli</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological Sciences and NEUROMED Institute, “Sapienza” University, Rome, Italy</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-03-15"></date><biblScope unit="volume">24</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="613">613</biblScope><biblScope unit="page" to="616">616</biblScope></imprint></monogr><idno type="istex">C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252</idno><idno type="DOI">10.1002/mds.22471</idno><idno type="ArticleID">MDS22471</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2009</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>TOR1A</term></item><item><term>single‐nucleotide polymorphisms</term></item><item><term>blepharospasm</term></item><item><term>primary adult‐onset</term></item><item><term>dystonia</term></item><item><term>spread</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="2008-10-07">Received</change><change when="2009-01-04">Registration</change><change when="2009-03-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252/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. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="40"><doi origin="wiley" registered="yes">10.1002/mds.v24:4</doi><numberingGroup><numbering type="journalVolume" number="24">24</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="2009-03-15">15 March 2009</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="200" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.22471</doi><idGroup><id type="unit" value="MDS22471"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2009 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2008-10-07"></event><event type="manuscriptRevised" date="2008-12-08"></event><event type="manuscriptAccepted" date="2009-01-04"></event><event type="firstOnline" date="2009-02-06"></event><event type="publishedOnlineFinalForm" date="2009-03-24"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2009-02-06"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText" date="2011-02-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">613</numbering><numbering type="pageLast">616</numbering></numberingGroup><correspondenceTo>Department of Neurological and Psychiatric Sciences, University of Bari, Policlinico, Piazza Giulio Cesare 1 70124 Bari, Italy</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS22471.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="16"></count><count type="wordTotal" number="3164"></count></countGroup><titleGroup><title type="main" xml:lang="en">The <i>TOR1A</i> polymorphism rs1182 and the risk of spread in primary blepharospasm<link href="#fn3"></link></title><title type="short" xml:lang="en">TOR1A Polymorphism rs1182 and Spread of Blepharospasm</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Giovanni</givenNames><familyName>Defazio</familyName><degrees>MD</degrees></personName><contactDetails><email>gdefazio@neurol.uniba.it</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Mar</givenNames><familyName>Matarin</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Elizabeth L.</givenNames><familyName>Peckham</familyName><degrees>DO</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Davide</givenNames><familyName>Martino</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Enza M.</givenNames><familyName>Valente</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Andrew</givenNames><familyName>Singleton</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Anthony</givenNames><familyName>Crawley</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Maria Stella</givenNames><familyName>Aniello</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Francesco</givenNames><familyName>Brancati</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Giovanni</givenNames><familyName>Abbruzzese</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Paolo</givenNames><familyName>Girlanda</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Paolo</givenNames><familyName>Livrea</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Mark</givenNames><familyName>Hallett</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au14" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Alfredo</givenNames><familyName>Berardelli</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="IT" type="organization"><unparsedAffiliation>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurosciences, Psychiatry, and Anesthesiology, University of Messina, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurological Sciences and NEUROMED Institute, “Sapienza” University, Rome, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1"><i>TOR1A</i></keyword><keyword xml:id="kwd2">single‐nucleotide polymorphisms</keyword><keyword xml:id="kwd3">blepharospasm</keyword><keyword xml:id="kwd4">primary adult‐onset</keyword><keyword xml:id="kwd5">dystonia</keyword><keyword xml:id="kwd6">spread</keyword></keywordGroup><fundingInfo><fundingAgency>Comitato Promotore Telethon, Italy</fundingAgency><fundingNumber>GGP05165</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Benign Essential Blepharospasm Research Foundation, Beaumont, TX, USA</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Intramural Research Programs of the National Institute on Aging</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institute of Neurological Disorders and Stroke</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institutes of Health: Department of Health and Human Service, Bethesda, MD, USA</fundingAgency><fundingNumber>project number Z01 AG000957‐05</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We studied the influence of the rs1182 polymorphism of the <i>TOR1A</i> gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn3"><p>Potential conflict of interest: None reported.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>TOR1A Polymorphism rs1182 and Spread of Blepharospasm</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>The</title></titleInfo><name type="personal"><namePart type="given">Giovanni</namePart><namePart type="family">Defazio</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</affiliation><description>Correspondence: Department of Neurological and Psychiatric Sciences, University of Bari, Policlinico, Piazza Giulio Cesare 1 70124 Bari, Italy</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mar</namePart><namePart type="family">Matarin</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elizabeth L.</namePart><namePart type="family">Peckham</namePart><namePart type="termsOfAddress">DO</namePart><affiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Davide</namePart><namePart type="family">Martino</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Enza M.</namePart><namePart type="family">Valente</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew</namePart><namePart type="family">Singleton</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anthony</namePart><namePart type="family">Crawley</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria Stella</namePart><namePart type="family">Aniello</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Francesco</namePart><namePart type="family">Brancati</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giovanni</namePart><namePart type="family">Abbruzzese</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paolo</namePart><namePart type="family">Girlanda</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurosciences, Psychiatry, and Anesthesiology, University of Messina, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paolo</namePart><namePart type="family">Livrea</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological and Psychiatric Sciences, University of Bari, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Mark</namePart><namePart type="family">Hallett</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alfredo</namePart><namePart type="family">Berardelli</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological Sciences and NEUROMED Institute, “Sapienza” University, Rome, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2009-03-15</dateIssued><dateCaptured encoding="w3cdtf">2008-10-07</dateCaptured><dateValid encoding="w3cdtf">2009-01-04</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="figures">1</extent><extent unit="tables">1</extent><extent unit="references">16</extent><extent unit="words">3164</extent></physicalDescription><abstract lang="en">We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society</abstract><note type="content">*Potential conflict of interest: None reported.</note><note type="funding">Comitato Promotore Telethon, Italy - No. GGP05165; </note><note type="funding">Benign Essential Blepharospasm Research Foundation, Beaumont, TX, USA</note><note type="funding">Intramural Research Programs of the National Institute on Aging</note><note type="funding">National Institute of Neurological Disorders and Stroke</note><note type="funding">National Institutes of Health: Department of Health and Human Service, Bethesda, MD, USA - No. project number Z01 AG000957‐05; </note><subject lang="en"><genre>Keywords</genre><topic>TOR1A</topic><topic>single‐nucleotide polymorphisms</topic><topic>blepharospasm</topic><topic>primary adult‐onset</topic><topic>dystonia</topic><topic>spread</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><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>4</number></detail><extent unit="pages"><start>613</start><end>616</end><total>5</total></extent></part></relatedItem><identifier type="istex">C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252</identifier><identifier type="DOI">10.1002/mds.22471</identifier><identifier type="ArticleID">MDS22471</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2009 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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