Heidbreder Anna, Philipp Konstanze
Institute for Sleep Medicine and Neuromuscular Disorders, University Hospital Muenster, Albert-Schweitzer- Campus 1, Building A1, 48149, Muenster, Germany.
Curr Treat Options Neurol. 2018 Jun 23;20(8):29. doi: 10.1007/s11940-018-0515-4.
This review aims to give an overview about the current knowledge of this novel neurological disorder associated to IgLON-5 antibodies and its treatment.
Anti-IgLON5 disease was first formally described in 2014. This newly discovered disorder recaps a complex neurological disorder with sleep, movement, and neuroimmunological and neurodegenerative aspects. The clinical manifestation of the anti-IgLON5 disease is very heterogeneous mostly including a sleep disorder with non-rapid eye movement (REM) sleep parasomnia and REM behavior disorder besides obstructive sleep apnea syndrome and stridor. Other neurological features (bulbar symptoms, gait abnormalities, cognitive dysfunction) are common. Until today, the mean age of diagnosis was mostly above the age of 60 with a balanced distribution of sex. Neuropathological examination showed neuronal loss and gliosis associated with an atypical tauopathy mainly involving the tegmentum of brainstem and hypothalamus. Although the function of the antibodies stays unclear so far, the evidence for the pathogenetic role of the antibody becomes more evident. Among the association to HLA-DRB110:01 and HLA-DQB105:01 as a potential factor for susceptibility, immunopathological findings are promising. So far, the pathophysiology of anti-IgLON5 disease is not sufficiently enlightened and needs more interdisciplinary approach to a better understanding of this interesting disorder at the border of autoimmunity and neurodegeneration. Immunotherapy has been frequently used but its therapeutic effect is limited.
本综述旨在概述这种与IgLON-5抗体相关的新型神经系统疾病的当前知识及其治疗方法。
抗IgLON5疾病于2014年首次被正式描述。这种新发现的疾病概括了一种复杂的神经系统疾病，涉及睡眠、运动以及神经免疫和神经退行性方面。抗IgLON5疾病的临床表现非常异质，主要包括睡眠障碍，伴有非快速眼动（REM）睡眠行为异常和REM睡眠行为障碍，此外还有阻塞性睡眠呼吸暂停综合征和喘鸣。其他神经学特征（球部症状、步态异常、认知功能障碍）也很常见。到目前为止，诊断的平均年龄大多在60岁以上，性别分布均衡。神经病理学检查显示神经元丢失和胶质增生，伴有主要累及脑干被盖和下丘脑的非典型tau蛋白病。尽管抗体的功能目前尚不清楚，但抗体致病作用的证据越来越明显。在与HLA-DRB110:01和HLA-DQB105:01的关联作为潜在易感性因素方面，免疫病理学发现很有前景。到目前为止，抗IgLON5疾病的病理生理学尚未得到充分阐明，需要更多跨学科方法来更好地理解这种处于自身免疫和神经退行性交界的有趣疾病。免疫疗法已被频繁使用，但其治疗效果有限。
