Mealy Maureen A, Wingerchuk Dean M, Greenberg Benjamin M, Levy Michael
Departments of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA.
Arch Neurol. 2012 Sep;69(9):1176-80. doi: 10.1001/archneurol.2012.314.
Rare diseases require integrated multicenter clinical networks to facilitate clinical research. Neuromyelitis optica (NMO) and NMO spectrum disorders (NMOSDs) are uncommon neuroinflammatory syndromes that are distinct from multiple sclerosis and associated with NMO-IgG, a serologic antibody against aquaporin 4.
To develop a national multicenter NMO clinical consortium and report initial demographic, clinical, and radiographic features of a cohort of patients with NMO/NMOSD in the United States.
Review of medical records from patients undergoing evaluation during a 5-year period. We used uniform diagnostic criteria and clinical, laboratory, and neuroimaging definitions to describe the cohort.
Three academic medical centers.
One hundred eighty-seven patients with NMO/NMOSD.
Of the 187 patients included in the analysis, 86 had NMO-IgG-seropositive NMO; 40, NMO-IgG-seronegative NMO; and 61, NMO-IgG-seropositive NMOSD. Altogether, 29.4% of our patients were initially misdiagnosed with multiple sclerosis. The average age at onset of NMO/NMOSD was 41.1 years with a strong female predilection, similar to other autoimmune disorders. Nonwhite patients constituted 52.4% of the cohort. The hallmark of NMO and NMOSD is recurrent longitudinally extensive transverse myelitis, but patients with NMO tend to initially present with optic neuritis.
A national multicenter consortium to study NMO/NMOSD is feasible and facilitates accurate clinical diagnosis. This network establishes a foundation for determining disease prevalence, translational research, and clinical trials.
罕见病需要整合的多中心临床网络来推动临床研究。视神经脊髓炎（NMO）和视神经脊髓炎谱系障碍（NMOSD）是罕见的神经炎性综合征，与多发性硬化不同，且与抗水通道蛋白4的血清学抗体NMO-IgG相关。
建立一个全国性的NMO多中心临床联盟，并报告美国一组NMO/NMOSD患者的初始人口统计学、临床和影像学特征。
回顾5年期间接受评估患者的病历。我们使用统一的诊断标准以及临床、实验室和神经影像学定义来描述该队列。
三个学术医疗中心。
187例NMO/NMOSD患者。
纳入分析的187例患者中，86例为NMO-IgG血清阳性的NMO；40例为NMO-IgG血清阴性的NMO；61例为NMO-IgG血清阳性的NMOSD。总体而言，我们的患者中有29.4%最初被误诊为多发性硬化。NMO/NMOSD的平均发病年龄为41.1岁，女性明显居多，这与其他自身免疫性疾病相似。非白人患者占该队列的52.4%。NMO和NMOSD的标志是复发性纵向广泛横贯性脊髓炎，但NMO患者往往最初表现为视神经炎。
一个研究NMO/NMOSD的全国性多中心联盟是可行的，有助于准确的临床诊断。该网络为确定疾病患病率、转化研究和临床试验奠定了基础。
