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A step forward for restless legs syndrome

Nature Genetics volume 39, pages 938–939 (2007)Cite this article

Two genome-wide association studies report three loci predisposing to restless legs syndrome, a common sleep disorder also associated with periodic limb movements during sleep. The identified variants account for a large portion of population-attributable risk in individuals of European ancestry and may preferentially affect various symptoms of the disorder.

Restless legs syndrome (RLS) is characterized by an urge to move one's legs in the evening, most often associated with sensory or painful sensations1,2. Sleep onset is delayed, and when sleep occurs, it is typically disturbed by stereotypical repetitive limb or leg twitches called periodic limb movements (PLMs). RLS affects 14% of women and 6% of men and is severe in 2%–3% of the population1,2. A familial propensity has long been reported1,2, and linkage studies have identified five linked regions1 but no specific genes. On page 1000 of this issue, Juliane Winkelmann and colleagues3 report evidence from a genome-wide case-control study showing association between RLS and three genetic loci: one within MEIS1, one within BTBD9 and one between MAP2K5 and LBXCOR1. In a concurrent publication, Hreinn Stefansson and colleagues4 present a genome-wide association study of RLS and PLM that reports association with one of these genes, BTBD9. One explanation for the different findings of these studies may be differences in methods of ascertainment and clinical diagnosis criteria. Specifically, Winkelmann et al.3 used patients diagnosed by clinical interviews, whereas Stefansson et al.4 used questionnaire-based diagnosis in the general population and ambulatory monitoring of PLMs in individuals with RLS and first-degree relatives4.

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Authors and Affiliations

  1. Emmanuel Mignot is at the Center for Narcolepsy, Stanford University, Palo Alto, California 94304, USA. mignot@stanford.edu,

    Emmanuel Mignot

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Mignot, E. A step forward for restless legs syndrome. Nat Genet 39, 938–939 (2007). https://doi.org/10.1038/ng0807-938

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