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Genetic aspects of restless legs syndrome

¹ Regional Movement Disorders Unit, King’s College Hospital, London, UK
² Department of Neurology, King‘s College Hospital, London, UK
³ Guy’s, King’s College and St Thomas’ School of Biomedical Medicine, King’s College, London, UK

Correspondence to:
Correspondence to:
K R Chaudhuri
Department of Neurology, 9th Floor, Ruskin Wing, King’s College Hospital, Denmark Hill, London SE5 9RS, UK;Ray.chaudhuri{at}uhl.nhs.uk

Restless legs syndrome (RLS), also known as Ekbom syndrome, is a common movement disorder with sensorimotor symptoms occurring during sleep and quiet wakefulness. The underlying cause for RLS is unknown but genetic influences play a strong part in the pathogenesis of RLS, particularly when the condition starts at a young age. This review explores the genetic basis of RLS and related phenotypic variations. Recently, three loci showing vulnerability to RLS have been described in French-Canadian and Italian families in chromosomes 12q, 14q and 9q, emphasising on an autosomal dominant mode of inheritance. These have been labelled RLS1, RLS2 and RLS3, respectively. However, specific causative mutations remain elusive and no linkage analysis has been identified so far in the candidate genes investigated in RLS.

Abbreviations: iRLS, idiopathic restless legs syndrome; LOD, logarithm of odds; MAO, monoamine oxidase; NTS, neurotensin; PLMS, periodic limb movements in sleep; RLS, restless legs syndrome; SCA, spinocerebellar ataxia; uRLS, secondary RLS due to uraemia

Keywords: restless legs syndrome; genetics; familial