Narcolepsy - clinical spectrum, aetiopathophysiology, diagnosis and treatment.,Nature Reviews Neurology

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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

Department of Neurology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
The Francis Crick Institute, London, UK.
Centre for Developmental Neurobiology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
Department of Health Sciences and Technology, Swiss Federal Institute of Technology/ETH Zürich, Zurich, Switzerland.
Department of Pulmonary Medicine, Beijing University People's Hospital, Beijing, China.
Department of Rheumatology, University Hospital, Zurich, Switzerland.
University of Witten/Herdecke, Institute of Immunology, Clinical Sleep and Neuroimmunology, Witten, Germany.
Centre of Sleep Medicine and Sleep Research, Klinik Barmelweid AG, Barmelweid, Switzerland.
Department of Immunohaematology, and Blood Transfusion, Leiden University Medical Centre, Leiden, Netherlands.
Department of Neuroscience, University of Copenhagen, Copenhagen, Denmark.
Neurology Department, Leiden University Medical Centre, Leiden, Netherlands.
Sleep Wake Centre, Stichting Epilepsie Instellingen Nederland, Heemstede, Netherlands.
INSERM U1043 - Centre National de la Recherche Scientifique UMR 5282, Centre de Physiopathologie Toulouse-Purpan, Université Toulouse III, Toulouse, France.
Centre de Recherche en Neurosciences de Lyon (CRNL), INSERM, Lyon, France.
Université Claude Bernard Lyon 1, Lyon, France.
Hephata-Klinik, Schwalmstadt, Philipps-Universität Marburg, Department of Neurology, Marburg, Germany.
Zentrum für psychische Gesundheit, Klinikum Ingolstadt, Ingolstadt, Germany.
Faculty of Medicine, University of Tsukuba, Ibaraki, Tsukuba, Japan.
Center of Medical Immunology, Institute for Research in Biomedicine, Bellinzona, Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland.
Institute of Microbiology, Eidgenössische Technische Hochschule, Zurich, Switzerland.
Department of Neurology, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Physiology, University of Lausanne, Lausanne, Switzerland.
Center for Investigation and Research in Sleep, Vaud University Hospital, Lausanne, Switzerland.
Sleep-Wake Disorders Center, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Montpellier, France.
National Reference Network for Narcolepsy, Montpellier, France.
Institut National de la Santé et de la Recherche Médicale (INSERM) U1061, Montpellier, France.

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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