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不安腿综合征的研究进展:从发病机制到治疗。

Update on Restless Legs Syndrome: from Mechanisms to Treatment.

机构信息

Department of Neurology, Feinberg School of Medicine, Chicago, IL, USA.

Center for Circadian and Sleep Medicine, Northwestern University, Chicago, IL, USA.

出版信息

Curr Neurol Neurosci Rep. 2019 Jun 27;19(8):54. doi: 10.1007/s11910-019-0965-4.

Abstract

PURPOSE OF REVIEW

To provide an overview of the molecular pathways and recent genetic risk loci associated with restless legs syndrome/Willis-Ekbom disease (RLS/WED) and describe the most recent treatment guidelines.

RECENT FINDINGS

Diagnostic criteria for RLS/WED now include a fifth criterion to differentiate from RLS/WED mimics. Our understanding of disease pathophysiology has improved, specifically regarding iron regulation in the brain and the role of other pathways such as opioid signaling and brain and spinal cord circuitry may play. Finally, several genetic risk loci have been described, including MEIS1 which is currently considered to be the strongest genetic risk factor for RLS/WED. Treatment guidelines now suggest α2δ ligands such as gabapentin enacarbil should be used as first-line treatment. The current literature focuses on disease pathways as well as the development of animal models based on genetic risk factors for RLS/WED. Updated treatment guidelines expand on first-line treatment options.

摘要

目的综述

提供不宁腿综合征/ Willis-Ekbom 病(RLS/WED)相关的分子途径和最近的遗传风险位点的概述,并描述最新的治疗指南。

最近的发现

RLS/WED 的诊断标准现在包括第五个标准来区分 RLS/WED 类似疾病。我们对疾病病理生理学的理解已经提高,特别是在大脑中的铁调节以及其他途径(如阿片信号和脑脊髓电路)可能发挥的作用。最后,已经描述了几个遗传风险位点,包括 MEIS1,它目前被认为是 RLS/WED 的最强遗传风险因素。治疗指南现在建议使用 α2δ 配体(如加巴喷丁恩卡比)作为一线治疗。目前的文献侧重于疾病途径以及基于 RLS/WED 的遗传风险因素的动物模型的开发。更新的治疗指南扩展了一线治疗选择。

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