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伴肌阵挛和睡眠周期性运动的显性遗传性不宁腿综合征:一种与内源性阿片类物质相关的综合征?

Dominantly inherited restless legs with myoclonus and periodic movements of sleep: a syndrome related to the endogenous opiates?

作者信息

Walters A, Hening W, Côté L, Fahn S

出版信息

Adv Neurol. 1986;43:309-19.

PMID:3946115
Abstract

The restless legs syndrome is a sensory and motor disorder of evening, repose, and sleep. The cardinal features include (a) restlessness, which is frequently associated with (b) dysesthesias, (c) myoclonic jerks and other dyskinesias while awake, (d) periodic movements of sleep, and (e) sleep disturbances. We have recently had the opportunity to study two patients severely affected by this syndrome whose family histories are consistent with dominant inheritance. Both patients serendipitously discovered that their symptoms responded uniquely well to opiate medication. Both patients were studied extensively with electrophysiological and videotape monitoring, and their movements were characterized. In both patients, all elements of the syndrome responded to opiates, with marked relief of symptoms and without any significant side effects. The specific opiate antagonist naloxone blocked the therapeutic benefit of the opiates. Our findings support the involvement of the endogenous opiate system in the pathogenesis of restless legs and related dyskinesias and suggest that opiate therapy may be a potentially valuable treatment for this sometimes disabling syndrome.

摘要

不宁腿综合征是一种发生于傍晚、休息及睡眠时的感觉和运动障碍。其主要特征包括:(a)不安,常伴有(b)感觉异常,(c)清醒时的肌阵挛性抽搐及其他运动障碍,(d)睡眠周期性运动,以及(e)睡眠障碍。我们最近有机会研究了两名受该综合征严重影响的患者,他们的家族史符合显性遗传。两名患者均意外发现其症状对阿片类药物反应特别良好。对两名患者均进行了广泛的电生理和录像监测,并对其运动进行了特征描述。在两名患者中,综合征的所有症状对阿片类药物均有反应,症状明显缓解且无任何显著副作用。特异性阿片拮抗剂纳洛酮可阻断阿片类药物的治疗效果。我们的研究结果支持内源性阿片系统参与不宁腿及相关运动障碍的发病机制,并表明阿片类药物治疗可能是这种有时致残性综合征的一种潜在有价值的治疗方法。

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