Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.
Identifieur interne : 001C90 ( Ncbi/Merge ); précédent : 001C89; suivant : 001C91Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.
Auteurs : Juliane Winkelmann [Allemagne] ; Oli Polo ; Federica Provini ; Sonja Nevsimalova ; David Kemlink ; Karel Sonka ; Birgit Högl ; Werner Poewe [Autriche] ; Karin Stiasny-Kolster ; Wolfgang Oertel ; Al De Weerd ; Luigi Ferini Strambi ; Marco Zucconi ; Peter P. Pramstaller ; Isabelle Arnulf ; Claudia Trenkwalder ; Christine Klein ; Georgios M. Hadjigeorgiou ; Svenja Happe ; David Rye ; Pasquale MontagnaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- MESH :
- genetics : Restless Legs Syndrome.
- Genetic Linkage, Humans, Inheritance Patterns, Phenotype.
Abstract
Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no gene has been identified yet. Phenocopies and possible nonpenetrants made it difficult to detect a common segregating haplotype within the families. Defining the exact candidate region is hampered by possible intrafamilial, allelic, and nonallelic heterogeneity. One important prerequisite for future successful genetic studies in RLS is the availability of large and thoroughly phenotyped patients and family samples for linkage as well as association studies.
DOI: 10.1002/mds.21587
PubMed: 17557342
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Hadjigeorgiou</name></author><author><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name></author><author><name sortKey="Rye, David" sort="Rye, David" uniqKey="Rye D" first="David" last="Rye">David Rye</name></author><author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21587</idno><idno type="RBID">pubmed:17557342</idno><idno type="pmid">17557342</idno><idno type="wicri:Area/PubMed/Corpus">002649</idno><idno type="wicri:Area/PubMed/Curation">002649</idno><idno type="wicri:Area/PubMed/Checkpoint">002799</idno><idno type="wicri:Area/Ncbi/Merge">001C90</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.</title><author><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Human Genetics, GSF-National Research Center for Environment and Health, Munich, Germany. julianewinkelmann@t-online.de</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, GSF-National Research Center for Environment and Health, 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></affiliation></author><author><name sortKey="Polo, Oli" sort="Polo, Oli" uniqKey="Polo O" first="Oli" last="Polo">Oli Polo</name></author><author><name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name></author><author><name sortKey="Nevsimalova, Sonja" sort="Nevsimalova, Sonja" uniqKey="Nevsimalova S" first="Sonja" last="Nevsimalova">Sonja Nevsimalova</name></author><author><name sortKey="Kemlink, David" sort="Kemlink, David" uniqKey="Kemlink D" first="David" last="Kemlink">David Kemlink</name></author><author><name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name></author><author><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name></author><author><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name><affiliation><country>Autriche</country><placeName><settlement type="city">Innsbruck</settlement><region nuts="2" type="region">Tyrol (Land)</region></placeName><orgName type="university">Université de médecine d'Innsbruck</orgName></affiliation></author><author><name sortKey="Stiasny Kolster, Karin" sort="Stiasny Kolster, Karin" uniqKey="Stiasny Kolster K" first="Karin" last="Stiasny-Kolster">Karin Stiasny-Kolster</name></author><author><name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name></author><author><name sortKey="De Weerd, Al" sort="De Weerd, Al" uniqKey="De Weerd A" first="Al" last="De Weerd">Al De Weerd</name></author><author><name sortKey="Strambi, Luigi Ferini" sort="Strambi, Luigi Ferini" uniqKey="Strambi L" first="Luigi Ferini" last="Strambi">Luigi Ferini Strambi</name></author><author><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</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><author><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name></author><author><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name></author><author><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name></author><author><name sortKey="Rye, David" sort="Rye, David" uniqKey="Rye D" first="David" last="Rye">David Rye</name></author><author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</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="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic Linkage</term><term>Humans</term><term>Inheritance Patterns</term><term>Phenotype</term><term>Restless Legs Syndrome (genetics)</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Restless Legs Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Genetic Linkage</term><term>Humans</term><term>Inheritance Patterns</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no gene has been identified yet. Phenocopies and possible nonpenetrants made it difficult to detect a common segregating haplotype within the families. Defining the exact candidate region is hampered by possible intrafamilial, allelic, and nonallelic heterogeneity. One important prerequisite for future successful genetic studies in RLS is the availability of large and thoroughly phenotyped patients and family samples for linkage as well as association studies.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17557342</PMID><DateCreated><Year>2007</Year><Month>12</Month><Day>25</Day></DateCreated><DateCompleted><Year>2008</Year><Month>02</Month><Day>14</Day></DateCompleted><DateRevised><Year>2010</Year><Month>11</Month><Day>18</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22 Suppl 18</Volume><PubDate><Year>2007</Year></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.</ArticleTitle><Pagination><MedlinePgn>S449-58</MedlinePgn></Pagination><Abstract><AbstractText>Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no gene has been identified yet. Phenocopies and possible nonpenetrants made it difficult to detect a common segregating haplotype within the families. Defining the exact candidate region is hampered by possible intrafamilial, allelic, and nonallelic heterogeneity. One important prerequisite for future successful genetic studies in RLS is the availability of large and thoroughly phenotyped patients and family samples for linkage as well as association studies.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Winkelmann</LastName><ForeName>Juliane</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, GSF-National Research Center for Environment and Health, Munich, Germany. julianewinkelmann@t-online.de</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Polo</LastName><ForeName>Oli</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Provini</LastName><ForeName>Federica</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Nevsimalova</LastName><ForeName>Sonja</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Kemlink</LastName><ForeName>David</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Sonka</LastName><ForeName>Karel</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Högl</LastName><ForeName>Birgit</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Poewe</LastName><ForeName>Werner</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Stiasny-Kolster</LastName><ForeName>Karin</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Oertel</LastName><ForeName>Wolfgang</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>de Weerd</LastName><ForeName>Al</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Strambi</LastName><ForeName>Luigi Ferini</ForeName><Initials>LF</Initials></Author><Author ValidYN="Y"><LastName>Zucconi</LastName><ForeName>Marco</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Pramstaller</LastName><ForeName>Peter P</ForeName><Initials>PP</Initials></Author><Author ValidYN="Y"><LastName>Arnulf</LastName><ForeName>Isabelle</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Trenkwalder</LastName><ForeName>Claudia</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Klein</LastName><ForeName>Christine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Hadjigeorgiou</LastName><ForeName>Georgios M</ForeName><Initials>GM</Initials></Author><Author ValidYN="Y"><LastName>Happe</LastName><ForeName>Svenja</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Rye</LastName><ForeName>David</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Montagna</LastName><ForeName>Pasquale</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="ErratumIn"><RefSource>Mov Disord. 2008 Jun;23(8):1200-2</RefSource></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008040">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D040582">Inheritance Patterns</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012148">Restless Legs Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList><NumberOfReferences>69</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>6</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>7</Month><Day>25</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>6</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21587</ArticleId><ArticleId IdType="pubmed">17557342</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Autriche</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li><li>Tyrol (Land)</li></region><settlement><li>Innsbruck</li><li>Munich</li></settlement><orgName><li>Université de médecine d'Innsbruck</li></orgName></list><tree><noCountry><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name><name sortKey="De Weerd, Al" sort="De Weerd, Al" uniqKey="De Weerd A" first="Al" last="De Weerd">Al De Weerd</name><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name><name sortKey="Kemlink, David" sort="Kemlink, David" uniqKey="Kemlink D" first="David" last="Kemlink">David Kemlink</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name><name sortKey="Nevsimalova, Sonja" sort="Nevsimalova, Sonja" uniqKey="Nevsimalova S" first="Sonja" last="Nevsimalova">Sonja Nevsimalova</name><name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name><name sortKey="Polo, Oli" sort="Polo, Oli" uniqKey="Polo O" first="Oli" last="Polo">Oli Polo</name><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P" last="Pramstaller">Peter P. Pramstaller</name><name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name><name sortKey="Rye, David" sort="Rye, David" uniqKey="Rye D" first="David" last="Rye">David Rye</name><name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name><name sortKey="Stiasny Kolster, Karin" sort="Stiasny Kolster, Karin" uniqKey="Stiasny Kolster K" first="Karin" last="Stiasny-Kolster">Karin Stiasny-Kolster</name><name sortKey="Strambi, Luigi Ferini" sort="Strambi, Luigi Ferini" uniqKey="Strambi L" first="Luigi Ferini" last="Strambi">Luigi Ferini Strambi</name><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name></region></country><country name="Autriche"><region name="Tyrol (Land)"><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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