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Update of the pathophysiology of the Restless‐Legs‐Syndrome
Author(s) -
Paulus Walter,
Dowling Pascal,
Rijsman Roselyne,
StiasnyKolster Karin,
Trenkwalder Claudia
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21824
Subject(s) - restless legs syndrome , pathophysiology , medicine , physical medicine and rehabilitation , neuroscience , psychology , pathology , psychiatry , neurology
The Restless Legs Syndrome (RLS) is a heterogeneous disease. Symptomatic or secondary forms encompass iron deficiency, uremia, pregnancy, polyneuropathy, and other causes. The so‐called idiopathic RLS syndrome preferentially affects patients with a younger onset before the age of 30. Here we summarize pathophysiological results along the anatomical route, beginning at the cortex and followed by the basal ganglia, thalamus, A11 neurones, substantia nigra, brainstem nuclei, and spinal cord. Genetic risk variants for RLS have recently been identified in two genes, one of them the homeobox gene MEIS1, known to be involved in embryonic development and variants in a second locus containing the genes encoding mitogen‐activated protein kinase MAP2K5, and the transcription factor LBXCOR1. A third one, the BTBD9 gene with unknown function encodes a BTB(POZ) domain. Accordingly, new concepts on pathophysiology have to bridge conventional knowledge with possible consequences deriving from these findings. Furthermore, this may create a framework to help understand why dopamine, opioid, and some anticonvulsant therapies are effective in RLS patients. © 2007 Movement Disorder Society