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首页> 外文期刊>Journal of neurology >Recent advances in the diagnosis, genetics and treatment of restless legs syndrome.
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Recent advances in the diagnosis, genetics and treatment of restless legs syndrome.

机译：不安腿综合征的诊断，遗传学和治疗方面的最新进展。

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摘要

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.
机译：近年来，由于在诊断，管理和遗传学方面取得了许多进步，躁动性腿综合征（RLS）的知识已大大增加。已开发出有助于RLS诊断和治疗的工具，特别是完善了RLS的基本诊断标准，开发了严重程度等级（IRLS，RLS-6，JHSS），以及提高诊断准确性和评估疾病的仪器。 RLS的特定方面，例如增强。这些新开发的工具已用于最近的基于人群的研究中，这些研究对RLS的流行病学以及基于患者的试验提供了更深入的了解。就RLS的遗传学而言，RLS家族的连锁研究已揭示了8个基因座，但尚未发现使用该方法的因果相关序列变异。最近的全基因组关联研究已经确定了MEIS1，BTBD9和MAP2K5 / LBXCOR1和PTPRD的内含子或基因间区域内的变异，为RLS提出了新的病理学假设。基于该常见疾病的循证管理策略，对治疗选择和近期试验进行了概述。

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