Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan
Prognostic factors and disease course in aquaporin-4 antibody-positive patients with neuromyelitis optica spectrum disorder from the United Kingdom and Japan
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DOI：
10.1093/brain/aws109
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发表时间：
2012-06-01
期刊：
影响因子：
14.5
通讯作者：
Palace, Jacqueline
中科院分区：
文献类型：
--
作者：
Kitley, Joanna;Leite, M. Isabel;Palace, Jacqueline
视神经肌萎缩症和视神经肌萎缩症谱系障碍最近与疾病特异性自身抗体水通道蛋白-4相关，被认为是致病性的。鉴定这种抗体可以拓宽临床表型。很明显，一些具有相似临床特征的患者没有这种抗体，可能患有不同的疾病，具有不同的结局和预后。以前的临床视神经肌萎缩症和视神经肌萎缩症谱系障碍研究包括了这样的患者。我们调查了来自英国和日本的106例水通道蛋白-4抗体血清阳性患者的临床结局和预后特征。我们研究了残疾结果的预测因素，即视力残疾（最佳眼的视力< 6/36的永久性双侧视力丧失），运动残疾（永久性无法独立行走超过100米），轮椅依赖性和死亡率。数据主要通过回顾性病例记录收集。在平均病程75个月后，18%的患者出现永久性双侧视力残疾，34%的患者出现永久性运动残疾，23%的患者依赖轮椅，9%的患者死亡。发病年龄似乎是残疾类型的一个重要预测因素。在英国，而不是日本队列的年轻发病患者，通常表现为视神经炎，视力残疾的风险很高，而两个队列中的老年患者运动残疾的风险很高，无论他们的发病症状如何。遗传因素似乎也很重要。英国队列似乎比日本队列有更严重的疾病，更严重的发作，更高的复发频率和更大的残疾在随访时，尽管早期免疫抑制。此外，在英国队列中，种族之间存在重要差异，非洲裔加勒比患者的发病年龄更小，脑部和多灶性发作更多，视力残疾的可能性高于白人患者。因此，发病年龄和遗传因素都可能是重要的，在确定水通道蛋白-4疾病的临床结果。这对于解释临床神经肌萎缩性视神经炎和神经肌萎缩性视神经炎谱系障碍研究具有重要意义，因为临床特征和结局在人群中似乎不是通用的，可能需要针对个别人群进行定制。这些因素需要在未来的前瞻性视神经肌萎缩症和视神经肌萎缩症谱系障碍研究中进一步探讨。
Neuromyelitis optica and neuromyelitis optica spectrum disorders have been recently associated with the disease-specific autoantibody aquaporin-4, thought to be pathogenic. Identifying this antibody has allowed the clinical phenotype to be broadened. It is clear that some patients with similar clinical features do not have this antibody and may have a different condition with different outcomes and prognosis. Previous clinical neuromyelitis optica and neuromyelitis optica spectrum disorder studies have included such patients. We investigated clinical outcomes and prognostic characteristics of 106 aquaporin-4 antibody-seropositive patients from the UK and Japan. We looked at predictors of disability outcomes, namely visual disability (permanent bilateral visual loss with visual acuity of < 6/36 in the best eye), motor disability (permanent inability to walk further than 100 m unaided), wheelchair dependence and mortality. Data were collected largely retrospectively through review of case records. After median disease duration of 75 months, 18% had developed permanent bilateral visual disability, 34% permanent motor disability, 23% had become wheelchair dependent and 9% had died. Age at disease onset appeared to be an important predictor of disability type. Young-onset patients in the UK, but not the Japanese cohort, commonly presenting with optic neuritis, had a high risk of visual disability while older patients in both cohorts had a high risk of motor disability, regardless of their onset symptom. Genetic factors also appeared important. The UK cohort seemed to have more severe disease than the Japanese cohort, with more severe onset attacks, a higher relapse frequency and greater disability at follow-up, despite earlier immunosuppression. Moreover, within the UK cohort, there were important differences between ethnic groups, with Afro-Caribbean patients having a younger age at disease onset, more brain and multifocal attacks and higher likelihood of visual disability than Caucasian patients. Thus, age at disease onset and genetic factors are both likely to be important in determining clinical outcomes in aquaporin-4 disease. This has important implications for interpreting clinical neuromyelitis optica and neuromyelitis optica spectrum disorder studies, since clinical features and outcomes appear not to be generic across populations and may need to be tailored to individual groups. These factors need to be explored further in future prospective neuromyelitis optica and neuromyelitis optica spectrum disorder studies.