Restless legs syndrome : Epidemiological and clinicogenetic study in a south tyrolean population isolate
Identifieur interne : 003631 ( Main/Exploration ); précédent : 003630; suivant : 003632Restless legs syndrome : Epidemiological and clinicogenetic study in a south tyrolean population isolate
Auteurs : Florian D. Vogi [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.
Descripteurs français
- Pascal (Inist)
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.
Affiliations:
- Allemagne, Italie
- Bavière, District de Haute-Bavière, Lombardie
- Milan, Munich
- Université Louis-et-Maximilien de Munich
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Vogi</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="02"><s1>Vita-Salute University and San Raffaele Scientific Institute</s1><s2>Milan</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Italie</country><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. 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i1="02"><s1>Vita-Salute University and San Raffaele Scientific Institute</s1><s2>Milan</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="03"><s1>Institute of Human Genetics, Technical University of Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><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" 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Liibeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lubeck</s2><s3>DEU</s3><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lubeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lubeck</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"><inist:fA14 i1="02"><s1>Vita-Salute University and San Raffaele Scientific Institute</s1><s2>Milan</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Italie</country><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. 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Vogi</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="02"><s1>Vita-Salute University and San Raffaele Scientific Institute</s1><s2>Milan</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="02"><s1>Vita-Salute University and San Raffaele Scientific Institute</s1><s2>Milan</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="03"><s1>Institute of Human Genetics, Technical University of Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><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"><inist:fA14 i1="03"><s1>Institute of Human Genetics, Technical University of Munich</s1><s2>Munich</s2><s3>DEU</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><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"><inist:fA14 i1="04"><s1>Department of Neurology, University of Liibeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Liibeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Human Genetics, University of Lübeck</s1><s2>Lubeck</s2><s3>DEU</s3><sZ>11 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lubeck</wicri:noRegion><wicri:noRegion>University of Lübeck</wicri:noRegion><wicri:noRegion>Lubeck</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"><inist:fA14 i1="02"><s1>Vita-Salute University and San Raffaele Scientific Institute</s1><s2>Milan</s2><s3>ITA</s3><sZ>3 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Italie</country><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"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, European Academy</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Bolzano</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, University of Liibeck</s1><s2>Lübeck</s2><s3>DEU</s3><sZ>11 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>University of Liibeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, General Regional Hospital</s1><s2>Bolzano</s2><s3>ITA</s3><sZ>13 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Epidemiology</term><term>Nervous system diseases</term><term>Prevalence</term><term>Restless legs syndrome</term><term>South</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Impatience membre inférieur syndrome</term><term>Epidémiologie</term><term>Sud</term><term>Prévalence</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><affiliations><list><country><li>Allemagne</li><li>Italie</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li><li>Lombardie</li></region><settlement><li>Milan</li><li>Munich</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li></orgName></list><tree><country name="Italie"><noRegion><name sortKey="Vogi, Florian D" sort="Vogi, Florian D" uniqKey="Vogi F" first="Florian D." last="Vogi">Florian D. Vogi</name></noRegion><name sortKey="Adel, Susanna" sort="Adel, Susanna" uniqKey="Adel S" first="Susanna" last="Adel">Susanna Adel</name><name sortKey="Aridon, Paolo" sort="Aridon, Paolo" uniqKey="Aridon P" first="Paolo" last="Aridon">Paolo Aridon</name><name sortKey="Bracco, Stefano" sort="Bracco, Stefano" uniqKey="Bracco S" first="Stefano" last="Bracco">Stefano Bracco</name><name sortKey="Casari, Giorgio" sort="Casari, Giorgio" uniqKey="Casari G" first="Giorgio" last="Casari">Giorgio Casari</name><name sortKey="De Grandi, Alessandro" sort="De Grandi, Alessandro" uniqKey="De Grandi A" first="Alessandro" last="De Grandi">Alessandro De Grandi</name><name sortKey="Pichler, Irene" sort="Pichler, Irene" uniqKey="Pichler I" first="Irene" last="Pichler">Irene Pichler</name><name sortKey="Pinggera, Gerd K" sort="Pinggera, Gerd K" uniqKey="Pinggera G" first="Gerd K." last="Pinggera">Gerd K. Pinggera</name><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><name sortKey="Volpato, Claudia Beu" sort="Volpato, Claudia Beu" uniqKey="Volpato C" first="Claudia Beu" last="Volpato">Claudia Beu Volpato</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Mayer, Thomas" sort="Mayer, Thomas" uniqKey="Mayer T" first="Thomas" last="Mayer">Thomas Mayer</name></region><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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