Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate
Identifieur interne : 001740 ( Istex/Curation ); précédent : 001739; suivant : 001741Restless 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.
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
Url:
DOI: 10.1002/mds.20922
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001740
Links to Exploration step
ISTEX:AF282C22CF4DE3F9C86D40200EC03416BBFCBBDELe document en format XML
<record><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><affiliation wicri:level="1"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><affiliation wicri:level="1"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation></author><author><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name><affiliation wicri:level="1"><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation></author><author><name sortKey="Bracco, Stefano" sort="Bracco, Stefano" uniqKey="Bracco S" first="Stefano" last="Bracco">Stefano Bracco</name><affiliation wicri:level="1"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation></author><author><name sortKey="Aridon, Paolo" sort="Aridon, Paolo" uniqKey="Aridon P" first="Paolo" last="Aridon">Paolo Aridon</name><affiliation wicri:level="1"><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Mayer, Thomas" sort="Mayer, Thomas" uniqKey="Mayer T" first="Thomas" last="Mayer">Thomas Mayer</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technical University of Munich, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technical University of Munich, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name><affiliation wicri:level="1"><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, General Regional Hospital, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, General Regional Hospital, Bolzano</wicri:regionArea></affiliation></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></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation></author><author><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><affiliation wicri:level="1"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation></author><author><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name><affiliation wicri:level="1"><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation></author><author><name sortKey="Bracco, Stefano" sort="Bracco, Stefano" uniqKey="Bracco S" first="Stefano" last="Bracco">Stefano Bracco</name><affiliation wicri:level="1"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation></author><author><name sortKey="Aridon, Paolo" sort="Aridon, Paolo" uniqKey="Aridon P" first="Paolo" last="Aridon">Paolo Aridon</name><affiliation wicri:level="1"><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea></affiliation></author><author><name sortKey="Mayer, Thomas" sort="Mayer, Thomas" uniqKey="Mayer T" first="Thomas" last="Mayer">Thomas Mayer</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technical University of Munich, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><affiliation wicri:level="1"><mods:affiliation>Institute of Human Genetics, Technical University of Munich, Munich, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, Technical University of Munich, Munich</wicri:regionArea></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea></affiliation></author><author><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name><affiliation wicri:level="1"><mods:affiliation>Vita‐Salute University and San Raffaele Scientific Institute, Milan, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Vita‐Salute University and San Raffaele Scientific Institute, Milan</wicri:regionArea></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"><mods:affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Genetic Medicine, European Academy, Bolzano</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, General Regional Hospital, Bolzano, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, General Regional Hospital, Bolzano</wicri:regionArea></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></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001740 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 001740 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:AF282C22CF4DE3F9C86D40200EC03416BBFCBBDE
|texte= Restless legs syndrome: Epidemiological and clinicogenetic study in a South Tyrolean population isolate
}}
| This area was generated with Dilib version V0.6.23. |  |