Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China.
Eur J Neurol. 2022 Jan;29(1):267-276. doi: 10.1111/ene.15117. Epub 2021 Oct 3.
We conducted this study to describe detailed the clinical characteristics, ancillary test results and treatment response of a group of Chinese patients with anti-IgLON5 disease.
We recruited 13 patients with positive IgLON5 antibodies in serum and/or cerebrospinal fluid from nine tertiary referral centers. Patients were enrolled from February 2017 to July 2021. We retrospectively collected information on the presenting and main symptoms, treatment response and follow-up outcomes.
The median age of onset for symptoms was 60 (range: 33-73) years and six of the 13 patients were females. The predominant clinical presentations included sleep disturbance (eight patients) and cognitive impairment (seven patients), followed by movement disorders (six patients). Parainfectious cause seemed plausible. Notably, we identified the first case of possible Epstein-Barr virus (EBV)-related anti-IgLON5 disease. Coexisting neural autoantibodies were identified in two patients. Furthermore, two patients had other autoimmune diseases. The IgG subclass was determined in four patients, including two with dominant IgG4 subtype and two with dominant IgG1 subtype. Additionally, 10 patients were treated with immunotherapy and four patients exhibited improvement. Overall, six of 10 patients for whom follow-up results were assessable had favorable clinical outcomes (modified Rankin Scale score ≤2).
The clinical spectrum of anti-IgLON5 disease is variable. Our results highlight a boarder spectrum of anti-IgLON5 disease.
我们开展这项研究，旨在详细描述一组中国抗 IgLON5 病患者的临床特征、辅助检查结果和治疗反应。
我们从 9 家三级转诊中心招募了 13 例血清和/或脑脊液中抗 IgLON5 抗体阳性的患者。患者于 2017 年 2 月至 2021 年 7 月入组。我们回顾性收集了患者的首发和主要症状、治疗反应和随访结果。
首发症状的中位年龄为 60 岁（范围：33-73 岁），13 例患者中有 6 例为女性。主要临床表现包括睡眠障碍（8 例）和认知障碍（7 例），其次为运动障碍（6 例）。感染后病因似乎合理。值得注意的是，我们发现了首例可能与 EBV 相关的抗 IgLON5 病。两名患者同时存在神经自身抗体。此外，两名患者患有其他自身免疫性疾病。在 4 名患者中测定了 IgG 亚类，其中 2 例为 IgG4 亚型优势，2 例为 IgG1 亚型优势。此外，10 名患者接受了免疫治疗，其中 4 名患者病情改善。总体而言，10 例可评估随访结果的患者中有 6 例临床结局良好（改良 Rankin 量表评分≤2）。
抗 IgLON5 病的临床谱是多样的。我们的结果强调了抗 IgLON5 病谱较宽。
