You Ni1, Dingding Shen1,2, Ying Zhang3, Yaying Song3, Yining Gao1, Qinming Zhou1, Lu He1, Dou Yin1, Ying Wang4, Fan Song4, Meiyuan Chen5, Yajun Lian6, Yuan Chen6, Xing Zhao7, Xiang Zhang8, Xiangjun Chen8, Yuting Wang9, Ling Zhang10, Nanxun Mo10, Dong Lv11, Jun Liu1, Zhifeng Mao10,12, Lisheng Peng13, Sheng Chen1,2. 1. Department of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. 2. Co-innovation Center of Neuroregeneration, Nantong University, Nantong, China. 3. Department of Neurology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. 4. Department of Neurology, The First Affiliated Hospital of Dalian Medical University, Liaoning, China. 5. Department of Neurology, The Affiliated Hospital of Hangzhou Normal University, Zhejiang, China. 6. Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. 7. Department of Neurology, Guangdong Second Provincial General Hospital, Guangzhou, China. 8. Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, Shanghai, China. 9. Department of Neurology, Tangshan Gongren Hospital, Hebei, China. 10. Neuroimmunology Group, KingMed Diagnostic laboratory, Guangzhou, China. 11. Department of Psychiatry, Affiliated Hospital of Guangdong Medical University, Zhanjiang, China. 12. Department of Clinical Medicine, Medical School, Xiangnan University, Chenzhou, China. 13. Department of Neurology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, China.
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: The clinical spectrum of anti-IgLON5 disease is variable. Our results highlight a boarder spectrum of anti-IgLON5 disease.
BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: The clinical spectrum of anti-IgLON5 disease is variable. Our results highlight a boarder spectrum of anti-IgLON5 disease.