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Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment.
Nature Reviews Neurology ( IF 28.2 ) Pub Date : 2019-07-19 , DOI: 10.1038/s41582-019-0226-9
Claudio L A Bassetti 1 , Antoine Adamantidis 1 , Denis Burdakov 2, 3, 4 , Fang Han 5 , Steffen Gay 6 , Ulf Kallweit 1, 7 , Ramin Khatami 1, 8 , Frits Koning 9 , Brigitte R Kornum 10 , Gert Jan Lammers 11, 12 , Roland S Liblau 13 , Pierre H Luppi 14, 15 , Geert Mayer 16 , Thomas Pollmächer 17 , Takeshi Sakurai 18 , Federica Sallusto 19, 20 , Thomas E Scammell 21 , Mehdi Tafti 22, 23 , Yves Dauvilliers 24, 25, 26
Affiliation  

Narcolepsy is a rare brain disorder that reflects a selective loss or dysfunction of orexin (also known as hypocretin) neurons of the lateral hypothalamus. Narcolepsy type 1 (NT1) is characterized by excessive daytime sleepiness and cataplexy, accompanied by sleep-wake symptoms, such as hallucinations, sleep paralysis and disturbed sleep. Diagnosis is based on these clinical features and supported by biomarkers: evidence of rapid eye movement sleep periods soon after sleep onset; cerebrospinal fluid orexin deficiency; and positivity for HLA-DQB1*06:02. Symptomatic treatment with stimulant and anticataplectic drugs is usually efficacious. This Review focuses on our current understanding of how genetic, environmental and immune-related factors contribute to a prominent (but not isolated) orexin signalling deficiency in patients with NT1. Data supporting the view of NT1 as a hypothalamic disorder affecting not only sleep-wake but also motor, psychiatric, emotional, cognitive, metabolic and autonomic functions are presented, along with uncertainties concerning the 'narcoleptic borderland', including narcolepsy type 2 (NT2). The limitations of current diagnostic criteria for narcolepsy are discussed, and a possible new classification system incorporating the borderland conditions is presented. Finally, advances and obstacles in the symptomatic and causal treatment of narcolepsy are reviewed.

中文翻译:

发作性睡病-临床频谱,病因病理生理学,诊断和治疗。

发作性睡病是一种罕见的脑部疾病,反映出下丘脑外侧的orexin(也称为hycrecretin)神经元的选择性丧失或功能障碍。发作性睡病1型(NT1)的特征是白天过度嗜睡和瘫痪,并伴有诸如幻觉,睡眠麻痹和睡眠不安等睡眠醒觉症状。诊断基于这些临床特征并得到生物标记物的支持:睡眠发作后眼动迅速进入睡眠状态的证据;脑脊液中食欲素缺乏症;和阳性为HLA-DQB1 * 06:02。用兴奋剂和抗分解代谢药物对症治疗通常是有效的。这篇综述着重于我们目前对遗传,环境和免疫相关因素如何导致NT1患者显着(但不是孤立的)食欲素信号转导不足的认识。数据支持NT1作为下丘脑疾病的观点,不仅影响睡眠-觉醒,还影响运动,精神,情感,认知,代谢和自主神经功能,以及有关“麻醉性边缘症”的不确定性,包括2型发作性睡病(NT2) 。讨论了当前的发作性睡病诊断标准的局限性,并提出了一种可能的新分类系统,其中包含了边疆条件。最后,回顾了对发作性睡病的症状和因果治疗的进展和障碍。讨论了当前的发作性睡病诊断标准的局限性,并提出了一种可能的新分类系统,其中包含了边疆条件。最后,回顾了对发作性睡病的症状和因果治疗的进展和障碍。讨论了当前的发作性睡病诊断标准的局限性,并提出了一种可能的新分类系统,其中包含了边疆条件。最后,回顾了对发作性睡病的症状和因果治疗的进展和障碍。
更新日期:2019-11-18
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