Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.
Identifieur interne : 002C51 ( PubMed/Curation ); précédent : 002C50; suivant : 002C52Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.
Auteurs : Florian D. Vogl [Italie] ; 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
Descripteurs français
- Wicri :
- geographic : Allemagne.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.20922
PubMed: 16685686
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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. 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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></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><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16685686</PMID><DateCreated><Year>2006</Year><Month>08</Month><Day>30</Day></DateCreated><DateCompleted><Year>2007</Year><Month>01</Month><Day>04</Day></DateCompleted><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>21</Volume><Issue>8</Issue><PubDate><Year>2006</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Restless legs syndrome: epidemiological and clinicogenetic study in a South Tyrolean population isolate.</ArticleTitle><Pagination><MedlinePgn>1189-95</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Vogl</LastName><ForeName>Florian D</ForeName><Initials>FD</Initials><AffiliationInfo><Affiliation>Institute of Genetic Medicine, European Academy, Bolzano, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pichler</LastName><ForeName>Irene</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Adel</LastName><ForeName>Susanna</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Pinggera</LastName><ForeName>Gerd K</ForeName><Initials>GK</Initials></Author><Author ValidYN="Y"><LastName>Bracco</LastName><ForeName>Stefano</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>De Grandi</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Volpato</LastName><ForeName>Claudia Beu</ForeName><Initials>CB</Initials></Author><Author ValidYN="Y"><LastName>Aridon</LastName><ForeName>Paolo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Mayer</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Meitinger</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Casari</LastName><ForeName>Giorgio</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Pramstaller</LastName><ForeName>Peter P</ForeName><Initials>PP</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016448">Multicenter Study</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002874">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D005858">Germany</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007558">Italy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011110">Polymorphism, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011795">Questionnaires</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015203">Reproducibility of Results</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012148">Restless Legs Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000503">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>5</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>1</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>5</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20922</ArticleId><ArticleId IdType="pubmed">16685686</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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