Genetics of restless legs syndrome (RLS): State‐of‐the‐art and future directions
Identifieur interne : 000333 ( France/Analysis ); précédent : 000332; suivant : 000334Genetics of restless legs syndrome (RLS): State‐of‐the‐art and future directions
Auteurs : Juliane Winkelmann [Allemagne] ; Oli Polo [Finlande] ; Federica Provini [Italie] ; Sonja Nevsimalova [République tchèque] ; David Kemlink [République tchèque] ; Karel Sonka [République tchèque] ; Birgit Högl [Autriche] ; Werner Poewe [Autriche] ; Karin Stiasny-Kolster [Allemagne] ; Wolfgang Oertel [Allemagne] ; Al De Weerd [Pays-Bas] ; Luigi Ferini Strambi [Italie] ; Marco Zucconi [Italie] ; Peter P. Pramstaller [Italie] ; Isabelle Arnulf [France] ; Claudia Trenkwalder [Allemagne] ; Christine Klein [Allemagne] ; Georgios M. Hadjigeorgiou [Grèce] ; Svenja Happe [Allemagne] ; David Rye [États-Unis] ; Pasquale Montagna [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
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. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21587
Affiliations:
- Allemagne, Autriche, Finlande, France, Grèce, Italie, Pays-Bas, République tchèque, États-Unis
- Bavière, District de Giessen, District de Haute-Bavière, District de Kassel, Finlande occidentale, Géorgie (États-Unis), Hesse (Land), Lombardie, Tyrol (Land)
- Cassel (Hesse), Innsbruck, Marbourg, Milan, Munich, Paris, Turku
- Université de Turku, Université de médecine d'Innsbruck
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type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Philipps University Marburg, Marburg</wicri:regionArea><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="De Weerd, Al" sort="De Weerd, Al" uniqKey="De Weerd A" first="Al" last="De Weerd">Al De Weerd</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>EEG Department and Sleepcenter SEIN Zwolle</wicri:regionArea></affiliation></author><author><name sortKey="Strambi, Luigi Ferini" sort="Strambi, Luigi Ferini" uniqKey="Strambi L" first="Luigi Ferini" last="Strambi">Luigi Ferini Strambi</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Sleep Disorders Center, Università Vita‐Salute H San Raffaele, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Sleep Disorders Center, Università Vita‐Salute H San Raffaele, 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. 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Hadjigeorgiou</name><affiliation wicri:level="1"><country xml:lang="fr">Grèce</country><wicri:regionArea>Department of Neurology, University of Thessaly, Medical School, Neurogenetics Unit, Larissa</wicri:regionArea><wicri:noRegion>Larissa</wicri:noRegion></affiliation></author><author><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Clinical Neurophysiology, Georg‐August‐University, Goettingen</wicri:regionArea><wicri:noRegion>Goettingen</wicri:noRegion><wicri:noRegion>Goettingen</wicri:noRegion></affiliation></author><author><name sortKey="Rye, David" sort="Rye, David" uniqKey="Rye D" first="David" last="Rye">David Rye</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Emory University School of Medicine, Atlanta, Georgia</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</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="2007">2007</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">S18</biblScope><biblScope unit="supplement">S18</biblScope><biblScope unit="page" from="S449">S449</biblScope><biblScope unit="page" to="S458">S458</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A37833A1F2364864EF0156A0F23BC89F892523B4</idno><idno type="DOI">10.1002/mds.21587</idno><idno type="ArticleID">MDS21587</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic Linkage</term><term>Humans</term><term>Inheritance Patterns</term><term>Nervous system diseases</term><term>Phenotype</term><term>Restless Legs Syndrome (genetics)</term><term>Restless legs syndrome</term><term>Review</term><term>Sleep</term><term>State of the art</term><term>genetics</term><term>restless legs syndrome</term><term>sleep</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><keywords scheme="Pascal" xml:lang="fr"><term>Article synthèse</term><term>Etat actuel</term><term>Pathologie du système nerveux</term><term>Sommeil</term><term>Syndrome des jambes sans repos</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Finlande</li><li>France</li><li>Grèce</li><li>Italie</li><li>Pays-Bas</li><li>République tchèque</li><li>États-Unis</li></country><region><li>Bavière</li><li>District de Giessen</li><li>District de Haute-Bavière</li><li>District de Kassel</li><li>Finlande occidentale</li><li>Géorgie (États-Unis)</li><li>Hesse (Land)</li><li>Lombardie</li><li>Tyrol (Land)</li></region><settlement><li>Cassel (Hesse)</li><li>Innsbruck</li><li>Marbourg</li><li>Milan</li><li>Munich</li><li>Paris</li><li>Turku</li></settlement><orgName><li>Université de Turku</li><li>Université de médecine d'Innsbruck</li></orgName></list><tree><country name="Allemagne"><region name="Bavière"><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name></region><name sortKey="Happe, Svenja" sort="Happe, Svenja" uniqKey="Happe S" first="Svenja" last="Happe">Svenja Happe</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Oertel, Wolfgang" sort="Oertel, Wolfgang" uniqKey="Oertel W" first="Wolfgang" last="Oertel">Wolfgang Oertel</name><name sortKey="Stiasny Olster, Karin" sort="Stiasny Olster, Karin" uniqKey="Stiasny Olster K" first="Karin" last="Stiasny-Kolster">Karin Stiasny-Kolster</name><name sortKey="Trenkwalder, Claudia" sort="Trenkwalder, Claudia" uniqKey="Trenkwalder C" first="Claudia" last="Trenkwalder">Claudia Trenkwalder</name><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name><name sortKey="Winkelmann, Juliane" sort="Winkelmann, Juliane" uniqKey="Winkelmann J" first="Juliane" last="Winkelmann">Juliane Winkelmann</name></country><country name="Finlande"><region name="Finlande occidentale"><name sortKey="Polo, Oli" sort="Polo, Oli" uniqKey="Polo O" first="Oli" last="Polo">Oli Polo</name></region></country><country name="Italie"><noRegion><name sortKey="Provini, Federica" sort="Provini, Federica" uniqKey="Provini F" first="Federica" last="Provini">Federica Provini</name></noRegion><name sortKey="Montagna, Pasquale" sort="Montagna, Pasquale" uniqKey="Montagna P" first="Pasquale" last="Montagna">Pasquale Montagna</name><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><name sortKey="Strambi, Luigi Ferini" sort="Strambi, Luigi Ferini" uniqKey="Strambi L" first="Luigi Ferini" last="Strambi">Luigi Ferini Strambi</name><name sortKey="Zucconi, Marco" sort="Zucconi, Marco" uniqKey="Zucconi M" first="Marco" last="Zucconi">Marco Zucconi</name></country><country name="République tchèque"><noRegion><name sortKey="Nevsimalova, Sonja" sort="Nevsimalova, Sonja" uniqKey="Nevsimalova S" first="Sonja" last="Nevsimalova">Sonja Nevsimalova</name></noRegion><name sortKey="Kemlink, David" sort="Kemlink, David" uniqKey="Kemlink D" first="David" last="Kemlink">David Kemlink</name><name sortKey="Sonka, Karel" sort="Sonka, Karel" uniqKey="Sonka K" first="Karel" last="Sonka">Karel Sonka</name></country><country name="Autriche"><noRegion><name sortKey="Hogl, Birgit" sort="Hogl, Birgit" uniqKey="Hogl B" first="Birgit" last="Högl">Birgit Högl</name></noRegion><name sortKey="Poewe, Werner" sort="Poewe, Werner" uniqKey="Poewe W" first="Werner" last="Poewe">Werner Poewe</name></country><country name="Pays-Bas"><noRegion><name sortKey="De Weerd, Al" sort="De Weerd, Al" uniqKey="De Weerd A" first="Al" last="De Weerd">Al De Weerd</name></noRegion></country><country name="France"><noRegion><name sortKey="Arnulf, Isabelle" sort="Arnulf, Isabelle" uniqKey="Arnulf I" first="Isabelle" last="Arnulf">Isabelle Arnulf</name></noRegion></country><country name="Grèce"><noRegion><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name></noRegion></country><country name="États-Unis"><region name="Géorgie (États-Unis)"><name sortKey="Rye, David" sort="Rye, David" uniqKey="Rye D" first="David" last="Rye">David Rye</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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