Genetics of restless legs syndrome

  title={Genetics of restless legs syndrome},
  author={Juliane Winkelmann and Bertram M{\"u}ller-Myhsok},
  pages={664 - 665}
A strong genetic contribution to the etiology of restless legs syndrome (RLS, OMIM 102300) was suggested by the first descriptions of its symptoms.1 More than half of patients report other affected family members and extended RLS families have since been recruited. However, neurologists and geneticists seeking to identify causally related variants have realized that RLS genetics is challenging. Genome-wide linkage analyses of RLS families have met with limited success. These analyses either… 

Genetics of restless legs syndrome

Genome-wide association studies identified variants within intronic or intergenic regions of MEIS1, BTBD9, and MAP2K5/LBOXCOR1 andMEIS1 and LBXCOR1 that have weak and moderate effects and increase the risk of developing RLS.

Restless legs syndrome.

Critical review of ropinirole and pramipexole – putative dopamine D3‐receptor selective agonists – for the treatment of RLS

The definition, diagnostic criteria, pathophysiology, and treatment of RLS are reviewed, and clinical and preclinical evidence for a pharmacologic rationale for D3 agonism in general and of the claimed D3 selectivity of ropinirole and pramipexole in particular are assessed.

Do genes matter in sleep?-A comprehensive update

Abbreviations: EEG: Electroencephalogram; PSG: Polysomnogram; REM: Rapid Eye Movement; NREM: Non Rapid Eye Movement; AD: Autosomal Dominant; AR: Autosomal Recessive; RLS: Restless Leg Syndrome; SNP:



Genetics of restless legs syndrome (RLS): State‐of‐the‐art and future directions

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.

Evidence for linkage of restless legs syndrome to chromosome 9p

A family with a rather homogeneous phenotype and very early disease onset represents a unique opportunity to further elucidate the genetic causes of the frequent restless leg syndrome and demonstrates linkage to a locus on chromosome 9p that is probably distinct from RLS3.

Identification of a major susceptibility locus for restless legs syndrome on chromosome 12q.

These findings represent the first mapping of a locus conferring susceptibility to RLS, and positioning the RLS-predisposing gene in a 14.71-cM region between D 12S1044 and D12S78 is refined.

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

Evidence for linkage on chromosome 12 supports the existence of RLS‐1 and provides evidence for the likelihood of further genetic locus heterogeneity of RLP, and further genome wide linkage analyses have the potential to identify additional RLS loci.

Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity.

The results support the presence of a major restless legs syndrome-susceptibility locus on chromosome 12q, which has been designated as RLS1, and suggest that at least one additional locus may be involved in the origin of this prevalent condition.

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13

Evidence for a further RLS locus is provided, thus supporting the picture of RLS as a genetically heterogenous complex trait.

Clinical characteristics and frequency of the hereditary restless legs syndrome in a population of 300 patients.

It is shown that patients with hereditary RLS may experience an earlier onset of the disease, compared to those of non-hereditary RLS, which was similar in both groups.

Segregation Analysis of Restless Legs Syndrome: Possible Evidence for a Major Gene in a Family Study Using Blinded Diagnoses

The high rate of phenocopies matches known population frequencies and taken with significant residual familial effects and the lack of evidence for a major gene controlling age of onset, indicates that non-genetic causes of RLS may exist and RLS is a complex disorder.

Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS‐5) in a Dutch kindred

The identification of the underlying mutation might reveal an important susceptibility gene for this common movement disorder, and the critical region of the RLS‐5 locus is reduced.

Restless legs syndrome in monozygotic twins: Clinical correlates

Article abstract—To better understand genetic characteristics of restless legs syndrome (RLS) and identify nongenetic factors that may influence phenotype, the authors studied 12 identical twins in