TY - JOUR
T1 - Recent advances in the diagnosis, genetics and treatment of restless legs syndrome
AU - Trenkwalder, Claudia
AU - Högl, Birgit
AU - Winkelmann, Juliane
PY - 2009/4
Y1 - 2009/4
N2 - Knowledge of restless legs syndrome (RLS) has greatly increased in recent years due to the many advances that have been made in diagnosis, management and genetics. Tools have been developed that facilitate the diagnosis and treatment of RLS, in particular the essential diagnostic criteria for RLS have been refined, severity scales (IRLS, RLS-6, JHSS) have been developed, as have instruments that improve diagnostic accuracy and assess for specific aspects of RLS such as augmentation. These newly developed tools have been used in recent population-based studies, which have provided a greater understanding of the epidemiology of RLS, and also within patient-based trials. As far as the genetics of RLS is concerned, linkage studies in RLS families have revealed eight loci but no causally related sequence variant has yet been identified using this approach. Recent genome-wide association studies have identified variants within intronic or intergenic regions of MEIS1, BTBD9, and MAP2K5/LBXCOR1, and PTPRD, raising new pathological hypotheses for RLS. An overview on therapeutic options and recent trials is given based on evidence-based management strategies for this common disorder.
AB - Knowledge of restless legs syndrome (RLS) has greatly increased in recent years due to the many advances that have been made in diagnosis, management and genetics. Tools have been developed that facilitate the diagnosis and treatment of RLS, in particular the essential diagnostic criteria for RLS have been refined, severity scales (IRLS, RLS-6, JHSS) have been developed, as have instruments that improve diagnostic accuracy and assess for specific aspects of RLS such as augmentation. These newly developed tools have been used in recent population-based studies, which have provided a greater understanding of the epidemiology of RLS, and also within patient-based trials. As far as the genetics of RLS is concerned, linkage studies in RLS families have revealed eight loci but no causally related sequence variant has yet been identified using this approach. Recent genome-wide association studies have identified variants within intronic or intergenic regions of MEIS1, BTBD9, and MAP2K5/LBXCOR1, and PTPRD, raising new pathological hypotheses for RLS. An overview on therapeutic options and recent trials is given based on evidence-based management strategies for this common disorder.
KW - Augmentation
KW - BTBD9
KW - Diagnosis
KW - Genetics
KW - MEIS1
KW - RLS
KW - Restless legs syndrome
KW - Scales
KW - Treatment
UR - http://www.scopus.com/inward/record.url?scp=65749118729&partnerID=8YFLogxK
U2 - 10.1007/s00415-009-0134-9
DO - 10.1007/s00415-009-0134-9
M3 - Review article
C2 - 19444530
AN - SCOPUS:65749118729
SN - 0340-5354
VL - 256
SP - 539
EP - 553
JO - Journal of Neurology
JF - Journal of Neurology
IS - 4
ER -