Restless legs syndrome (RLS) is a common, underdiagnosed neurological condition with an age-dependent prevalence of up to 14%. Familial aggregation has been widely shown since Ekbom's first description of the disorder in 1945.
Five loci (12q, 14q, 9p, 2q, and 20p) have been described so far, although no positive association with any specific genes, either within these loci or additional candidates investigated, has been reported.
Two recent genome-wide association studies have reported positive association with sequence variants in or around specific genes on chromosomes 6p, 2p and 15q.
The molecular findings, together with the variable expressivity of the phenotype, suggest a substantial clinical and genetic heterogeneity of RLS.
This article reviews the clinical characteristics, diagnosis and epidemiology with a focus on the genetics and pathogenesis of RLS.
Source: Clinical Genetics. 2007 Dec 6 [E-pub ahead of print] PMID: 18070136, Pichler I, Hicks AA, Pramstaller PP. Institute of Genetic Medicine, European Academy, Bolzano, Italy.