Monaca C, Franco P, Philip P, Dauvilliers Y
Unité des troubles du sommeil, neurophysiologie clinique, CHRU de Lille, 2, avenue Oscar-Lambret, 59000 Lille, France; Inserm U1171, 59000 Lille, France.
Centre de référence national narcolepsie et hypersomnie idiopathique, France; Unités d'explorations fonctionnelles neurologiques, hôpital Mère-Couple-Enfant, hospices civils de Lyon, 69500 Lyon, France.
Rev Neurol (Paris). 2017 Jan-Feb;173(1-2):25-31. doi: 10.1016/j.neurol.2016.09.016. Epub 2016 Nov 9.
In the new international classification of sleep disorders (ICSD-3), narcolepsy is differentiated into two distinct pathologies: type 1 narcolepsy (NT1) and type 2 narcolepsy (NT2). NT1 is characterised by periods of an irrepressible need to sleep, cataplexy (a sudden loss of muscle tone triggered by emotion) and in some cases the presence of symptoms such as hypnagogic hallucinations, sleep paralysis and disturbed night-time sleep. Its physiopathology is based on the loss of hypocretin neurons in the hypothalamus, seemingly connected to an auto-immune process. By definition, cataplexy is absent and the hypocretin levels in the CSF are normal in NT2. Confirming the diagnosis requires polysomnography and multiple sleep latency tests. The choice of further investigations is based on the presence or absence of typical cataplexy. Further investigations include HLA typing, lumbar puncture to measure the hypocretin level in the CSF, or even brain imagery in the case of narcolepsy suspected to be secondary to an underlying pathology. In this consensus we propose recommendations for the work-up to be carried out during diagnosis and follow-up for patients suffering from narcolepsy.
在新的《国际睡眠障碍分类》（ICSD - 3）中，发作性睡病被分为两种不同的病症：1型发作性睡病（NT1）和2型发作性睡病（NT2）。NT1的特征是存在难以抑制的睡眠需求期、猝倒（由情绪引发的突然肌肉张力丧失），在某些情况下还伴有如入睡幻觉、睡眠麻痹和夜间睡眠障碍等症状。其病理生理学基于下丘脑分泌素神经元的丧失，这似乎与自身免疫过程有关。根据定义，NT2不存在猝倒，且脑脊液中分泌素水平正常。确诊需要进行多导睡眠图检查和多次睡眠潜伏期测试。进一步检查的选择基于是否存在典型猝倒。进一步的检查包括HLA分型、腰椎穿刺以测量脑脊液中的分泌素水平，对于怀疑继发于潜在病理状况的发作性睡病患者甚至还包括脑部影像学检查。在本共识中，我们针对发作性睡病患者诊断和随访期间的检查提出建议。
