Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
J Neurol. 2024 Jul;271(7):3879-3896. doi: 10.1007/s00415-024-12426-w. Epub 2024 May 21.
Neuromyelitis optica spectrum disorders (NMOSD) include a rare group of autoimmune conditions that primarily affect the central nervous system. They are characterized by inflammation and damage to the optic nerves, brain and spinal cord, leading to severe vision impairment, locomotor disability and sphynteric disturbances. In the majority of cases, NMOSD arises due to specific serum immunoglobulin G (IgG) autoantibodies targeting aquaporin 4 (AQP4-IgG), which is the most prevalent water-channel protein of the central nervous system. Early diagnosis and treatment are crucial to manage symptoms and prevent long-term disability in NMOSD patients. NMOSD were previously associated with a poor prognosis. However, recently, a number of randomized controlled trials have demonstrated that biological therapies acting on key elements of NMOSD pathogenesis, such as B cells, interleukin-6 (IL-6) pathway, and complement, have impressive efficacy in preventing the occurrence of clinical relapses. The approval of the initial drugs marks a revolutionary advancement in the treatment of NMOSD patients, significantly transforming therapeutic options and positively impacting their prognosis. In this review, we will provide an updated overview of the key immunopathological, clinical, laboratory, and neuroimaging aspects of NMOSD. Additionally, we will critically examine the latest advancements in NMOSD treatment approaches. Lastly, we will discuss key aspects regarding optimization of treatment strategies and their monitoring.
视神经脊髓炎谱系疾病(NMOSD)包括一组罕见的自身免疫性疾病,主要影响中枢神经系统。其特征为视神经、脑和脊髓的炎症和损伤,导致严重的视力障碍、运动障碍和括约肌功能障碍。在大多数情况下,NMOSD 是由于针对水通道蛋白 4(AQP4-IgG)的特定血清免疫球蛋白 G(IgG)自身抗体引起的,AQP4-IgG 是中枢神经系统中最普遍的水通道蛋白。早期诊断和治疗对于管理 NMOSD 患者的症状和预防长期残疾至关重要。NMOSD 以前与预后不良相关。然而,最近,一些随机对照试验表明,针对 NMOSD 发病机制关键因素的生物疗法,如 B 细胞、白细胞介素 6(IL-6)途径和补体,在预防临床复发方面具有显著疗效。初始药物的批准标志着 NMOSD 患者治疗的革命性进展,显著改变了治疗选择并对其预后产生积极影响。在这篇综述中,我们将提供 NMOSD 的关键免疫病理学、临床、实验室和神经影像学方面的最新概述。此外,我们将批判性地审查 NMOSD 治疗方法的最新进展。最后,我们将讨论关于优化治疗策略及其监测的关键方面。