Neurology Service, Hospital Clínic of Barcelona, C/Villarroel 170, 08036, Barcelona, Spain.
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Curr Neurol Neurosci Rep. 2018 May 23;18(7):41. doi: 10.1007/s11910-018-0848-0.
To review the clinical and polysomnographic features of the sleep disorder occurring in the recently described anti-IgLON5 disease. The hallmark of the disease is the presence of antibodies against IgLON5, a neural cell adhesion molecule of unknown function. The disease presents a robust HLA association, and the neuropathological examination shows a novel neuronal tauopathy with predominant hypothalamic and brainstem involvement.
Most patients (> 80%) present sleep-related vocalizations with movements and behaviors and sleep-disordered breathing. Polysomnographic studies show (1) a complex NREM sleep parasomnia at sleep initiation characterized by undifferentiated NREM or poorly structured N2 sleep with sleep-talking or mumbling, and simple or finalistic movements followed by normal periods of N3 or N2 NREM sleep, (2) REM sleep behavior disorder (RBD), and (3) obstructive sleep apnea with stridor. The last two features appear mainly in periods where NREM sleep normalizes. Identification of the anti-IgLON5 sleep disorder is important to suspect the disease. The combination of abnormal NREM sleep initiation, followed by normal periods of NREM sleep and RBD, represents a novel parasomnia.
最近描述的抗 IgLON5 病中出现的睡眠障碍的临床和多导睡眠图特征。该疾病的标志是存在针对 IgLON5 的抗体，IgLON5 是一种功能未知的神经细胞粘附分子。该疾病与 HLA 强烈相关，神经病理学检查显示一种新型的神经元 tau 病，主要累及下丘脑和脑干。
大多数患者（>80%）出现与睡眠相关的发声伴运动和行为以及睡眠呼吸障碍。多导睡眠图研究显示（1）睡眠起始时复杂的非快速动眼期睡眠行为障碍，表现为未分化的非快速动眼期或结构不良的 N2 睡眠，伴有说梦话或嘟囔，简单或目的性行为，随后是正常的 N3 或 N2 非快速动眼期睡眠，（2）快速动眼期睡眠行为障碍（RBD），以及（3）伴有喉喘鸣的阻塞性睡眠呼吸暂停。后两个特征主要出现在 NREM 睡眠正常化的时期。识别抗 IgLON5 睡眠障碍对于怀疑该疾病很重要。异常的非快速动眼期睡眠起始，随后是正常的非快速动眼期睡眠和 RBD，代表一种新型的睡眠障碍。
