Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate
Identifieur interne : 001740 ( Istex/Corpus ); précédent : 001739; suivant : 001741Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate
Auteurs : Florian D. Vogl ; Irene Pichler ; Susanna Adel ; Gerd K. Pinggera ; Stefano Bracco ; Alessandro De Grandi ; Claudia Beu Volpato ; Paolo Aridon ; Thomas Mayer ; Thomas Meitinger ; Christine Klein ; Giorgio Casari ; Peter P. PramstallerSource :
- Movement Disorders [ 0885-3185 ] ; 2006-08.
English descriptors
Abstract
Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two‐step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty‐eight patients (59.6%) had at least one affected first‐degree relative and were classified as hereditary cases. In a single extended pedigree, linkage to known RLS loci was investigated specifying autosomal dominant and recessive models; parametric and nonparametric multipoint linkage scores were computed. None of the calculated linkage scores was suggestive of linkage between RLS and any of the three investigated loci. This study was conducted in a population isolate providing for a homogeneous genetic and environmental background. The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS. © 2006 Movement Disorder Society
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DOI: 10.1002/mds.20922
Links to Exploration step
ISTEX:AF282C22CF4DE3F9C86D40200EC03416BBFCBBDELe document en format XML
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Vogl</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name><affiliation><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Pinggera, Gerd K" sort="Pinggera, Gerd K" uniqKey="Pinggera G" first="Gerd K." last="Pinggera">Gerd K. 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Vogl</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name><affiliation><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Pinggera, Gerd K" sort="Pinggera, Gerd K" uniqKey="Pinggera G" first="Gerd K." last="Pinggera">Gerd K. Pinggera</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="Bracco, Stefano" sort="Bracco, Stefano" uniqKey="Bracco S" first="Stefano" last="Bracco">Stefano Bracco</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="De Grandi, Alessandro" sort="De Grandi, Alessandro" uniqKey="De Grandi A" first="Alessandro" last="De Grandi">Alessandro De Grandi</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="Volpato, Claudia Beu" sort="Volpato, Claudia Beu" uniqKey="Volpato C" first="Claudia Beu" last="Volpato">Claudia Beu Volpato</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation></author><author><name sortKey="Aridon, Paolo" sort="Aridon, Paolo" uniqKey="Aridon P" first="Paolo" last="Aridon">Paolo Aridon</name><affiliation><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Mayer, Thomas" sort="Mayer, Thomas" uniqKey="Mayer T" first="Thomas" last="Mayer">Thomas Mayer</name><affiliation><mods:affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</mods:affiliation></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation><mods:affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name><affiliation><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, General Regional Hospital, Bolzano, Italy</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><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. 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="2006-08">2006-08</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1189">1189</biblScope><biblScope unit="page" to="1195">1195</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE</idno><idno type="DOI">10.1002/mds.20922</idno><idno type="ArticleID">MDS20922</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>genetics</term><term>population isolate</term><term>prevalence</term><term>restless legs syndrome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two‐step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty‐eight patients (59.6%) had at least one affected first‐degree relative and were classified as hereditary cases. In a single extended pedigree, linkage to known RLS loci was investigated specifying autosomal dominant and recessive models; parametric and nonparametric multipoint linkage scores were computed. None of the calculated linkage scores was suggestive of linkage between RLS and any of the three investigated loci. This study was conducted in a population isolate providing for a homogeneous genetic and environmental background. The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Florian D. Vogl MSc, MD</name><affiliations><json:string>Institute of Genetic Medicine, European Academy, Bolzano, Italy</json:string></affiliations></json:item><json:item><name>Irene Pichler MSc</name><affiliations><json:string>Institute of Genetic Medicine, European Academy, Bolzano, Italy</json:string></affiliations></json:item><json:item><name>Susanna Adel MD</name><affiliations><json:string>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Gerd K. Pinggera PhD</name><affiliations><json:string>Institute of Genetic Medicine, European Academy, Bolzano, Italy</json:string></affiliations></json:item><json:item><name>Stefano Bracco BSc</name><affiliations><json:string>Institute of Genetic Medicine, European Academy, Bolzano, Italy</json:string></affiliations></json:item><json:item><name>Alessandro De Grandi MSc</name><affiliations><json:string>Institute of Genetic Medicine, European Academy, Bolzano, Italy</json:string></affiliations></json:item><json:item><name>Claudia Beu Volpato PhD</name><affiliations><json:string>Institute of Genetic Medicine, European Academy, Bolzano, Italy</json:string></affiliations></json:item><json:item><name>Paolo Aridon MD</name><affiliations><json:string>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Thomas Mayer MD</name><affiliations><json:string>Institute of Human Genetics, Technical University of Munich, Munich, Germany</json:string></affiliations></json:item><json:item><name>Thomas Meitinger MD</name><affiliations><json:string>Institute of Human Genetics, Technical University of Munich, Munich, Germany</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Giorgio Casari PhD</name><affiliations><json:string>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Peter P. Pramstaller MD</name><affiliations><json:string>Institute of Genetic Medicine, European Academy, Bolzano, Italy</json:string><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, General Regional Hospital, Bolzano, Italy</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>restless legs syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>population isolate</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>prevalence</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two‐step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty‐eight patients (59.6%) had at least one affected first‐degree relative and were classified as hereditary cases. In a single extended pedigree, linkage to known RLS loci was investigated specifying autosomal dominant and recessive models; parametric and nonparametric multipoint linkage scores were computed. None of the calculated linkage scores was suggestive of linkage between RLS and any of the three investigated loci. This study was conducted in a population isolate providing for a homogeneous genetic and environmental background. The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS. © 2006 Movement Disorder Society</abstract><qualityIndicators><score>6.033</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1349</abstractCharCount><pdfWordCount>3669</pdfWordCount><pdfCharCount>24911</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>197</abstractWordCount></qualityIndicators><title>Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate</title><genre><json:string>Serial article</json:string></genre><host><volume>21</volume><pages><total>7</total><last>1195</last><first>1189</first></pages><issn><json:string>0885-3185</json:string></issn><issue>8</issue><subject><json:item><value>Research Article</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.20922</json:string></doi><id>AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate</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 of the Autonomous Province of Bolzano</note><note>South Tyrolean PD Association</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate</title><author><persName><forename type="first">Florian D.</forename><surname>Vogl</surname><roleName type="degree">MSc, MD</roleName></persName><note type="biography">Drs. Vogl and Pichler contributed equally to this study.</note><affiliation>Drs. Vogl and Pichler contributed equally to this study.</affiliation><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation></author><author><persName><forename type="first">Irene</forename><surname>Pichler</surname><roleName type="degree">MSc</roleName></persName><note type="biography">Drs. Vogl and Pichler contributed equally to this study.</note><affiliation>Drs. Vogl and Pichler contributed equally to this study.</affiliation><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation></author><author><persName><forename type="first">Susanna</forename><surname>Adel</surname><roleName type="degree">MD</roleName></persName><affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</affiliation></author><author><persName><forename type="first">Gerd K.</forename><surname>Pinggera</surname><roleName type="degree">PhD</roleName></persName><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation></author><author><persName><forename type="first">Stefano</forename><surname>Bracco</surname><roleName type="degree">BSc</roleName></persName><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation></author><author><persName><forename type="first">Alessandro</forename><surname>De Grandi</surname><roleName type="degree">MSc</roleName></persName><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation></author><author><persName><forename type="first">Claudia Beu</forename><surname>Volpato</surname><roleName type="degree">PhD</roleName></persName><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation></author><author><persName><forename type="first">Paolo</forename><surname>Aridon</surname><roleName type="degree">MD</roleName></persName><affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</affiliation></author><author><persName><forename type="first">Thomas</forename><surname>Mayer</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</affiliation></author><author><persName><forename type="first">Thomas</forename><surname>Meitinger</surname><roleName type="degree">MD</roleName></persName><affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Klein</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Giorgio</forename><surname>Casari</surname><roleName type="degree">PhD</roleName></persName><affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</affiliation></author><author><persName><forename type="first">Peter P.</forename><surname>Pramstaller</surname><roleName type="degree">MD</roleName></persName><note type="correspondence"><p>Correspondence: Institute of Genetic Medicine, European Academy, Viale Druso 1, 39100 Bolzano, Italy</p></note><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, General Regional Hospital, Bolzano, Italy</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. 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="2006-08"></date><biblScope unit="vol">21</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1189">1189</biblScope><biblScope unit="page" to="1195">1195</biblScope></imprint></monogr><idno type="istex">AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE</idno><idno type="DOI">10.1002/mds.20922</idno><idno type="ArticleID">MDS20922</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two‐step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty‐eight patients (59.6%) had at least one affected first‐degree relative and were classified as hereditary cases. In a single extended pedigree, linkage to known RLS loci was investigated specifying autosomal dominant and recessive models; parametric and nonparametric multipoint linkage scores were computed. None of the calculated linkage scores was suggestive of linkage between RLS and any of the three investigated loci. This study was conducted in a population isolate providing for a homogeneous genetic and environmental background. The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS. © 2006 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>restless legs syndrome</term></item><item><term>population isolate</term></item><item><term>prevalence</term></item><item><term>genetics</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2005-09-02">Received</change><change when="2005-12-23">Registration</change><change when="2006-08">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE/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. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="80"><doi origin="wiley" registered="yes">10.1002/mds.v21:8</doi><numberingGroup><numbering type="journalVolume" number="21">21</numbering><numbering type="journalIssue">8</numbering></numberingGroup><coverDate startDate="2006-08">August 2006</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="220" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.20922</doi><idGroup><id type="unit" value="MDS20922"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2006 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2005-09-02"></event><event type="manuscriptRevised" date="2005-12-13"></event><event type="manuscriptAccepted" date="2005-12-23"></event><event type="publishedOnlineEarlyUnpaginated" date="2006-05-09"></event><event type="firstOnline" date="2006-05-09"></event><event type="publishedOnlineFinalForm" date="2006-08-22"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></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">1189</numbering><numbering type="pageLast">1195</numbering></numberingGroup><correspondenceTo>Institute of Genetic Medicine, European Academy, Viale Druso 1, 39100 Bolzano, Italy</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS20922.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="3"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="35"></count><count type="wordTotal" number="4472"></count></countGroup><titleGroup><title type="main" xml:lang="en">Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate</title><title type="short" xml:lang="en">RLS in a Population Isolate</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" noteRef="#fn1"><personName><givenNames>Florian D.</givenNames><familyName>Vogl</familyName><degrees>MSc, MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1" noteRef="#fn1"><personName><givenNames>Irene</givenNames><familyName>Pichler</familyName><degrees>MSc</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Susanna</givenNames><familyName>Adel</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Gerd K.</givenNames><familyName>Pinggera</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Stefano</givenNames><familyName>Bracco</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Alessandro</givenNames><familyName>De Grandi</familyName><degrees>MSc</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Claudia Beu</givenNames><familyName>Volpato</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Paolo</givenNames><familyName>Aridon</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Thomas</givenNames><familyName>Mayer</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Thomas</givenNames><familyName>Meitinger</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af4 #af5"><personName><givenNames>Christine</givenNames><familyName>Klein</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Giorgio</givenNames><familyName>Casari</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af1 #af4 #af6" corresponding="yes"><personName><givenNames>Peter P.</givenNames><familyName>Pramstaller</familyName><degrees>MD</degrees></personName><contactDetails><email>peter.pramstaller@eurac.edu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="IT" type="organization"><unparsedAffiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="IT" type="organization"><unparsedAffiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="DE" type="organization"><unparsedAffiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="DE" type="organization"><unparsedAffiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="DE" type="organization"><unparsedAffiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="IT" type="organization"><unparsedAffiliation>Department of Neurology, General Regional Hospital, Bolzano, Italy</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">restless legs syndrome</keyword><keyword xml:id="kwd2">population isolate</keyword><keyword xml:id="kwd3">prevalence</keyword><keyword xml:id="kwd4">genetics</keyword></keywordGroup><fundingInfo><fundingAgency>Ministry of Health of the Autonomous Province of Bolzano</fundingAgency></fundingInfo><fundingInfo><fundingAgency>South Tyrolean PD Association</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two‐step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty‐eight patients (59.6%) had at least one affected first‐degree relative and were classified as hereditary cases. In a single extended pedigree, linkage to known RLS loci was investigated specifying autosomal dominant and recessive models; parametric and nonparametric multipoint linkage scores were computed. None of the calculated linkage scores was suggestive of linkage between RLS and any of the three investigated loci. This study was conducted in a population isolate providing for a homogeneous genetic and environmental background. The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>Drs. Vogl and Pichler contributed equally to this study.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 4-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>RLS in a Population Isolate</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate</title></titleInfo><name type="personal"><namePart type="given">Florian D.</namePart><namePart type="family">Vogl</namePart><namePart type="termsOfAddress">MSc, MD</namePart><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation><description>Drs. Vogl and Pichler contributed equally to this study.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Irene</namePart><namePart type="family">Pichler</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation><description>Drs. Vogl and Pichler contributed equally to this study.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susanna</namePart><namePart type="family">Adel</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gerd K.</namePart><namePart type="family">Pinggera</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stefano</namePart><namePart type="family">Bracco</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alessandro</namePart><namePart type="family">De Grandi</namePart><namePart type="termsOfAddress">MSc</namePart><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Claudia Beu</namePart><namePart type="family">Volpato</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paolo</namePart><namePart type="family">Aridon</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Thomas</namePart><namePart type="family">Mayer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Thomas</namePart><namePart type="family">Meitinger</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giorgio</namePart><namePart type="family">Casari</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter P.</namePart><namePart type="family">Pramstaller</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</affiliation><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, General Regional Hospital, Bolzano, Italy</affiliation><description>Correspondence: Institute of Genetic Medicine, European Academy, Viale Druso 1, 39100 Bolzano, Italy</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">2006-08</dateIssued><dateCaptured encoding="w3cdtf">2005-09-02</dateCaptured><dateValid encoding="w3cdtf">2005-12-23</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">3</extent><extent unit="tables">3</extent><extent unit="references">35</extent><extent unit="words">4472</extent></physicalDescription><abstract lang="en">Genetic contributions to restless legs syndrome (RLS) have been consistently recognized from population and family studies. To determine the clinical and genetic features of RLS in a population isolate and explore linkage to three previously described susceptibility loci on chromosomes 12q, 14q, and 9p, respectively, an isolated population in the South Tyrolean Alps was identified and 530 adults participated in the study. Using a two‐step strategy, 47 patients with idiopathic RLS were ascertained. The prevalence in the population was 8.9%. Twenty‐eight patients (59.6%) had at least one affected first‐degree relative and were classified as hereditary cases. In a single extended pedigree, linkage to known RLS loci was investigated specifying autosomal dominant and recessive models; parametric and nonparametric multipoint linkage scores were computed. None of the calculated linkage scores was suggestive of linkage between RLS and any of the three investigated loci. This study was conducted in a population isolate providing for a homogeneous genetic and environmental background. The absence of a suggestive linkage signal at the three known RLS susceptibility loci is indicative of further locus heterogeneity of this frequent disorder and encourages further studies to unveil the genetic causes of RLS. © 2006 Movement Disorder Society</abstract><note type="funding">Ministry of Health of the Autonomous Province of Bolzano</note><note type="funding">South Tyrolean PD Association</note><subject lang="en"><genre>Keywords</genre><topic>restless legs syndrome</topic><topic>population isolate</topic><topic>prevalence</topic><topic>genetics</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. 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