Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.
Identifieur interne : 002649 ( PubMed/Curation ); précédent : 002648; suivant : 002650Genetics 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 ; 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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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M" last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name>
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<author><name sortKey="Rye, David" sort="Rye, David" uniqKey="Rye D" first="David" last="Rye">David Rye</name>
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<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>
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<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>
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