Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate
Identifieur interne : 004516 ( Main/Merge ); précédent : 004515; suivant : 004517Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate
Auteurs : Florian D. Vogl [Italie] ; Irene Pichler [Italie] ; Susanna Adel [Italie] ; Gerd K. Pinggera [Italie] ; Stefano Bracco [Italie] ; Alessandro De Grandi [Italie] ; Claudia Beu Volpato [Italie] ; Paolo Aridon [Italie] ; Thomas Mayer [Allemagne] ; Thomas Meitinger [Allemagne] ; Christine Klein [Allemagne] ; Giorgio Casari [Italie] ; Peter P. Pramstaller [Italie, Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-08.
Descripteurs français
- Wicri :
- geographic : Allemagne.
English descriptors
- KwdEn :
- Adult, Chromosome Mapping, Female, Genetic Markers, Germany (epidemiology), Humans, Italy, Male, Pedigree, Polymorphism, Genetic, Questionnaires, Reproducibility of Results, Restless Legs Syndrome (epidemiology), Restless Legs Syndrome (genetics), Restless Legs Syndrome (physiopathology), genetics, population isolate, prevalence, restless legs syndrome.
- MESH :
- chemical : Genetic Markers.
- geographic , epidemiology : Germany.
- epidemiology : Restless Legs Syndrome.
- genetics : Restless Legs Syndrome.
- physiopathology : Restless Legs Syndrome.
- Adult, Chromosome Mapping, Female, Humans, Italy, Male, Pedigree, Polymorphism, Genetic, Questionnaires, Reproducibility of Results.
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
Url:
DOI: 10.1002/mds.20922
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Pramstaller</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, General Regional Hospital, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></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>Adult</term><term>Chromosome Mapping</term><term>Female</term><term>Genetic Markers</term><term>Germany (epidemiology)</term><term>Humans</term><term>Italy</term><term>Male</term><term>Pedigree</term><term>Polymorphism, Genetic</term><term>Questionnaires</term><term>Reproducibility of Results</term><term>Restless Legs Syndrome (epidemiology)</term><term>Restless Legs Syndrome (genetics)</term><term>Restless Legs Syndrome (physiopathology)</term><term>genetics</term><term>population isolate</term><term>prevalence</term><term>restless legs syndrome</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Germany</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Mapping</term><term>Female</term><term>Humans</term><term>Italy</term><term>Male</term><term>Pedigree</term><term>Polymorphism, Genetic</term><term>Questionnaires</term><term>Reproducibility of Results</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</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><double doi="10.1002/mds.20922"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate</title><author><name sortKey="Vogl, Florian D" sort="Vogl, Florian D" uniqKey="Vogl F" first="Florian D." last="Vogl">Florian D. Vogl</name></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name></author><author><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name></author><author><name sortKey="Pinggera, Gerd K" sort="Pinggera, Gerd K" uniqKey="Pinggera G" first="Gerd K." last="Pinggera">Gerd K. Pinggera</name></author><author><name sortKey="Bracco, Stefano" sort="Bracco, Stefano" uniqKey="Bracco S" first="Stefano" last="Bracco">Stefano Bracco</name></author><author><name sortKey="De Grandi, Alessandro" sort="De Grandi, Alessandro" uniqKey="De Grandi A" first="Alessandro" last="De Grandi">Alessandro De Grandi</name></author><author><name sortKey="Volpato, Claudia Beu" sort="Volpato, Claudia Beu" uniqKey="Volpato C" first="Claudia Beu" last="Volpato">Claudia Beu Volpato</name></author><author><name sortKey="Aridon, Paolo" sort="Aridon, Paolo" uniqKey="Aridon P" first="Paolo" last="Aridon">Paolo Aridon</name></author><author><name sortKey="Mayer, Thomas" sort="Mayer, Thomas" uniqKey="Mayer T" first="Thomas" last="Mayer">Thomas Mayer</name></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/mds.20922</idno><idno type="url">https://api.istex.fr/document/AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001740</idno><idno type="wicri:Area/Istex/Curation">001740</idno><idno type="wicri:Area/Istex/Checkpoint">001C62</idno><idno type="wicri:doubleKey">0885-3185:2006:Vogl F:restless:legs:syndrome</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate</title><author><name sortKey="Vogl, Florian D" sort="Vogl, Florian D" uniqKey="Vogl F" first="Florian D." last="Vogl">Florian D. Vogl</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></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 wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Bracco, Stefano" sort="Bracco, Stefano" uniqKey="Bracco S" first="Stefano" last="Bracco">Stefano Bracco</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Aridon, Paolo" sort="Aridon, Paolo" uniqKey="Aridon P" first="Paolo" last="Aridon">Paolo Aridon</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Mayer, Thomas" sort="Mayer, Thomas" uniqKey="Mayer T" first="Thomas" last="Mayer">Thomas Mayer</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technical University of Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="4"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technical University of Munich, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></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 wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, General Regional Hospital, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></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><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.</title><author><name sortKey="Vogl, Florian D" sort="Vogl, Florian D" uniqKey="Vogl F" first="Florian D" last="Vogl">Florian D. Vogl</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name></author><author><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name></author><author><name sortKey="Pinggera, Gerd K" sort="Pinggera, Gerd K" uniqKey="Pinggera G" first="Gerd K" last="Pinggera">Gerd K. Pinggera</name></author><author><name sortKey="Bracco, Stefano" sort="Bracco, Stefano" uniqKey="Bracco S" first="Stefano" last="Bracco">Stefano Bracco</name></author><author><name sortKey="De Grandi, Alessandro" sort="De Grandi, Alessandro" uniqKey="De Grandi A" first="Alessandro" last="De Grandi">Alessandro De Grandi</name></author><author><name sortKey="Volpato, Claudia Beu" sort="Volpato, Claudia Beu" uniqKey="Volpato C" first="Claudia Beu" last="Volpato">Claudia Beu Volpato</name></author><author><name sortKey="Aridon, Paolo" sort="Aridon, Paolo" uniqKey="Aridon P" first="Paolo" last="Aridon">Paolo Aridon</name></author><author><name sortKey="Mayer, Thomas" sort="Mayer, Thomas" uniqKey="Mayer T" first="Thomas" last="Mayer">Thomas Mayer</name></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20922</idno><idno type="RBID">pubmed:16685686</idno><idno type="pmid">16685686</idno><idno type="wicri:Area/PubMed/Corpus">002C51</idno><idno type="wicri:Area/PubMed/Curation">002C51</idno><idno type="wicri:Area/PubMed/Checkpoint">002B08</idno><idno type="wicri:Area/Ncbi/Merge">001683</idno><idno type="wicri:Area/Ncbi/Curation">001683</idno><idno type="wicri:Area/Ncbi/Checkpoint">001683</idno><idno type="wicri:doubleKey">0885-3185:2006:Vogl F:restless:legs:syndrome</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.</title><author><name sortKey="Vogl, Florian D" sort="Vogl, Florian D" uniqKey="Vogl F" first="Florian D" last="Vogl">Florian D. Vogl</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name></author><author><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name></author><author><name sortKey="Pinggera, Gerd K" sort="Pinggera, Gerd K" uniqKey="Pinggera G" first="Gerd K" last="Pinggera">Gerd K. Pinggera</name></author><author><name sortKey="Bracco, Stefano" sort="Bracco, Stefano" uniqKey="Bracco S" first="Stefano" last="Bracco">Stefano Bracco</name></author><author><name sortKey="De Grandi, Alessandro" sort="De Grandi, Alessandro" uniqKey="De Grandi A" first="Alessandro" last="De Grandi">Alessandro De Grandi</name></author><author><name sortKey="Volpato, Claudia Beu" sort="Volpato, Claudia Beu" uniqKey="Volpato C" first="Claudia Beu" last="Volpato">Claudia Beu Volpato</name></author><author><name sortKey="Aridon, Paolo" sort="Aridon, Paolo" uniqKey="Aridon P" first="Paolo" last="Aridon">Paolo Aridon</name></author><author><name sortKey="Mayer, Thomas" sort="Mayer, Thomas" uniqKey="Mayer T" first="Thomas" last="Mayer">Thomas Mayer</name></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Chromosome Mapping</term><term>Female</term><term>Genetic Markers</term><term>Germany (epidemiology)</term><term>Humans</term><term>Italy</term><term>Male</term><term>Pedigree</term><term>Polymorphism, Genetic</term><term>Questionnaires</term><term>Reproducibility of Results</term><term>Restless Legs Syndrome (epidemiology)</term><term>Restless Legs Syndrome (genetics)</term><term>Restless Legs Syndrome (physiopathology)</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Germany</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Mapping</term><term>Female</term><term>Humans</term><term>Italy</term><term>Male</term><term>Pedigree</term><term>Polymorphism, Genetic</term><term>Questionnaires</term><term>Reproducibility of Results</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Allemagne</term></keywords></textClass></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.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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