NYU Multiple Sclerosis Comprehensive Care Center, Department of Neurology, NYU School of Medicine, 240 E 38th St, New York, NY, 10016, USA.
Curr Allergy Asthma Rep. 2016 Jun;16(6):42. doi: 10.1007/s11882-016-0619-4.
The discovery of a highly specific biomarker of neuromyelitis optica (NMO)-the anti-aquaporin-4 (AQP4) antibody-has opened new paths to understanding disease pathogenesis and afforded a way to confirm the diagnosis in clinical practice. An important consequence of the discovery is the broadening of the spectrum of syndromes seen in the context of AQP4 autoimmunity. These syndromes have been subsumed under the rubric of NMO spectrum disorder (NMOSD). The current classification recognizes not only optic neuritis and myelitis as core syndromes of NMOSD but also cerebral, diencephalic, brainstem, and area postrema syndromes. These neurologic syndromes are the focus of our review. AQP4 is also expressed in many organs outside of the central nervous system, and this may explain some of the unusual, non-neurologic features that have been occasionally reported in NMOSD. Our review catalogues non-neurologic manifestations seen in NMOSD and concludes with a discussion of frequently associated autoimmune and neoplastic comorbidities of NMOSD.
水通道蛋白 4(AQP4)抗体是视神经脊髓炎(NMO)的一种高度特异性生物标志物,它的发现为理解疾病发病机制开辟了新途径,并为临床诊断提供了一种方法。这一发现的一个重要结果是扩大了 AQP4 自身免疫相关综合征的范围。这些综合征被归入 NMO 谱系障碍(NMOSD)的范畴。目前的分类不仅将视神经炎和脊髓炎作为 NMOSD 的核心综合征,还将脑、间脑、脑干和延髓后区综合征纳入其中。这些神经系统综合征是我们综述的重点。AQP4 也在中枢神经系统以外的许多器官中表达,这可以解释 NMOSD 中偶尔报告的一些不常见的非神经特征。我们的综述列出了 NMOSD 中出现的非神经表现,并以 NMOSD 常伴发的自身免疫和肿瘤合并症的讨论结束。