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Winkelmann, J. ; Lichtner, P. ; Pütz, B.* ; Trenkwalder, C.* ; Hauk, S. ; Meitinger, T. ; Strom, T.M. ; Müller-Myhsok, B.*

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.

Mov. Disord. 21, 28-33 (2006)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have not yet been found. Three loci for RLS on chromosomes 12q, 14q, and 9p (RLS-1, RLS-2, and RLS-3) have been reported with a recessive (RLS-1) and autosomal dominant (RLS-2, RLS-3) mode of inheritance, respectively. The overall contribution of these loci to this disorder is not known. To evaluate the significance of these loci, we investigated 12 RLS families for possible linkage to these chromosomal regions. Genotyping was carried out in 70 affected family members using 26 polymorphic microsatellite markers (chromosome 12: 7; chromosome 14: 7, chromosome 9: 12). Linkage analysis was carried out using the published parameters applied in the original studies (chromosome 12: q=0.25, f0=0.005, f1=0.005, f2=0.8; chromosome 14: q=0.003, f0=0.005, f1=f2=0.95; chromosome 9: q=0.001, f0=0.005, f1=f2=0.95; affected individuals only). In addition, transmission disequilibrium test (TDT) analyses were done. We found evidence for linkage on chromosome 12 using the TDT. Linkage to RLS-2 and RLS-3 was excluded in 1 of 12 families. This supports the existence of RLS-1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLS. Investigations in additional RLS families are required to confirm the known loci and further genome wide linkage analyses have the potential to identify additional RLS loci.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords restless legs syndrome; RLS; linkage analysis; sleep; movement disorder; MAP-O-MAT; SUSCEPTIBILITY LOCUS; LINKAGE ANALYSIS; POPULATION; CRITERIA; DISEASE; HUMANS; 14Q
ISSN (print) / ISBN 0885-3185
e-ISSN 1531-8257
Journal Movement Disorders
Quellenangaben Volume: 21, Issue: 1, Pages: 28-33 Article Number: , Supplement: ,
Publisher Wiley
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)