Trenkwalder Claudia, Högl Birgit, Winkelmann Juliane
Paracelsus-Elena Hospital, Center of Parkinsonism and Movement Disorders, Klinikstr. 16, 34128, Kassel, Germany.
J Neurol. 2009 Apr;256(4):539-53. doi: 10.1007/s00415-009-0134-9. Epub 2009 Apr 27.
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.
近年来，由于在不安腿综合征（RLS）的诊断、管理和遗传学方面取得了许多进展，人们对该疾病的了解大幅增加。现已开发出有助于RLS诊断和治疗的工具，特别是RLS的基本诊断标准得到了完善，还开发了严重程度量表（IRLS、RLS-6、JHSS），以及提高诊断准确性和评估RLS特定方面（如症状加重）的工具。这些新开发的工具已用于近期基于人群的研究，这些研究增进了人们对RLS流行病学的了解，也用于基于患者的试验。就RLS的遗传学而言，对RLS家族的连锁研究已揭示出8个基因座，但使用这种方法尚未确定任何因果相关的序列变异。最近的全基因组关联研究已在MEIS1、BTBD9、MAP2K5/LBXCOR1和PTPRD的内含子或基因间区域中鉴定出变异，为RLS提出了新的病理假说。本文基于针对这种常见疾病的循证管理策略，对治疗选择和近期试验进行了综述。
