抗甘氨酸受体（抗 GlyR）抗体介导多种免疫相关疾病。本研究旨在总结其临床特征，以加深对抗GlyR抗体相关疾病的认识。通过收集甘氨酸受体（GlyR）抗体阳性收治患者的临床信息，报告了1例新的GlyR抗体阳性患者的临床特征在这项研究中。为了获得有关抗 GlyR 抗体相关疾病的更多信息，对本研究中新报告病例和之前发表的病例的临床数据和结果进行了合并和分析。一例抗 GlyR 抗体相关进行性脑脊髓炎伴强直和肌阵挛的新病例(PERM) 在本研究中被确定。一名仅脑脊液抗 GlyR 抗体阳性的 20 岁男性，经一线免疫治疗后预后良好。文献综述表明，抗GlyR抗体相关疾病的常见临床表现包括PERM或僵人综合征（SPS）（n = 179，50.1%）、癫痫发作（n = 94，26.3%）和其他神经系统疾病。疾病（n = 84，24.5%）。其他神经系统问题包括脱髓鞘、炎症、小脑性共济失调和运动障碍、脑炎、急性精神病、认知障碍或痴呆、乳糜泻、帕金森病、神经性疼痛和异常性疼痛、类固醇反应性耳聋、偏侧运动/抽动、喉肌张力障碍和全身无力包括呼吸肌。 PERM/SPS 组对免疫治疗的反应优于其他组。研究结果表明抗 GlyR 抗体相关疾病存在多种临床表型。常见的临床表型包括 PERM、SPS、癫痫发作和副肿瘤性疾病。 RERM/SPS 患者对免疫治疗反应良好。版权所有 © 2024 Wu、Zhang、Shi 和 Fang。

Antiglycine receptor (anti-GlyR) antibody mediates multiple immune-related diseases. This study aimed to summarize the clinical features to enhance our understanding of anti-GlyR antibody-related disease.By collecting clinical information from admitted patients positive for glycine receptor (GlyR) antibody, the clinical characteristics of a new patient positive for GlyR antibody were reported in this study. To obtain additional information regarding anti-GlyR antibody-linked illness, clinical data and findings on both newly reported instances in this study and previously published cases were merged and analyzed.A new case of anti-GlyR antibody-related progressive encephalomyelitis with rigidity and myoclonus (PERM) was identified in this study. A 20-year-old man with only positive cerebrospinal fluid anti-GlyR antibody had a good prognosis with first-line immunotherapy. The literature review indicated that the common clinical manifestations of anti-GlyR antibody-related disease included PERM or stiff-person syndrome (SPS) (n = 179, 50.1%), epileptic seizure (n = 94, 26.3%), and other neurological disorders (n = 84, 24.5%). Other neurological issues included demyelination, inflammation, cerebellar ataxia and movement disorders, encephalitis, acute psychosis, cognitive impairment or dementia, celiac disease, Parkinson's disease, neuropathic pain and allodynia, steroid-responsive deafness, hemiballism/tics, laryngeal dystonia, and generalized weakness included respiratory muscles. The group of PERM/SPS exhibited a better response to immunotherapy than others.The findings suggest the presence of multiple clinical phenotypes in anti-GlyR antibody-related disease. Common clinical phenotypes include PERM, SPS, epileptic seizure, and paraneoplastic disease. Patients with RERM/SPS respond well to immunotherapy.Copyright © 2024 Wu, Zhang, Shi and Fang.