Arias-Carrión Oscar
Experimental Neurology, Philipps-Universitat Marburg, Alemania.
Rev Med Chil. 2009 Sep;137(9):1209-16.
Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep-onset rapid eye movement (REM) sleep periods. It is now identified as a neurodegenerative disease because there is a massive loss of specific neurons in the brain. These neurons contain the neuropeptides hypocretin-1 and hypocretin-2, which are also known as orexin-A and orexin-B. Cerebrospinal fluid hypocretin-1 measurements are diagnostic for primary narcolepsy. The cause of neural loss could be autoimmune since most patients have the HLA DQB1 0602 allele that predisposes to the disorders. The discovery of hypocretin deficiency is redefining the clinical entity of narcolepsy and offering novel diagnostic procedures. This article reviews the current understanding of narcolepsy and discusses the implications of hypocretin discovery.
发作性睡病是一种睡眠障碍，其特征为日间过度嗜睡、猝倒、入睡前幻觉以及睡眠开始时的快速眼动（REM）睡眠期。由于大脑中特定神经元大量缺失，它现在被认定为一种神经退行性疾病。这些神经元含有神经肽下丘脑分泌素-1和下丘脑分泌素-2，它们也被称为食欲素-A和食欲素-B。脑脊液下丘脑分泌素-1测量值对原发性发作性睡病具有诊断意义。神经损失的原因可能是自身免疫性的，因为大多数患者具有易患该疾病的HLA DQB1 0602等位基因。下丘脑分泌素缺乏的发现正在重新定义发作性睡病的临床实体，并提供新的诊断方法。本文综述了目前对发作性睡病的认识，并讨论了下丘脑分泌素发现的意义。
