摘要目的:探讨抗谷氨酸脱羧酶（GAD）抗体相关神经系统综合征的临床特点。方法:收集河南省人民医院神经内科自2019年1月至2022年7月诊治的6例抗GAD抗体相关神经系统综合征患者的临床表现、影像学及实验室检查结果、治疗方案及随访预后情况等，分析总结其相关特点。结果:6例患者中男性3例，女性3例；发病年龄为（54.3±17.7）岁。3例临床表型为僵人综合征，1例为边缘叶脑炎+全面性癫痫，1例为边缘叶外脑炎+枕叶癫痫，1例为小脑性共济失调（确诊为小细胞肺癌相关副肿瘤综合征）。4例患者甲状腺过氧化物酶抗体水平升高，1例重叠抗γ-氨基丁酸B型受体抗体及抗Amphiphysin抗体阳性。2例僵人综合征患者腰穿失败，1例脑脊液白细胞数、蛋白轻度升高，余3例基本正常；2例脑脊液中特异性寡克隆区带阳性。1例患者头颅MRI示双侧枕叶异常信号，余患者未见特异性炎性病灶。6例患者均接受激素+免疫球蛋白/血浆置换治疗，除1例小细胞肺癌相关副肿瘤综合征患者外，余患者出院时改良Rankin量表（mRS）评分均有明显改善，并接受长程免疫治疗。2例僵人综合征患者病情逐渐进展，末次随访时（1例3年，1例2年）mRS评分达5分。结论:抗GAD抗体相关神经系统综合征的临床表型包括僵人综合征、边缘叶脑炎、边缘叶外脑炎、癫痫、小脑性共济失调，部分患者为副肿瘤综合征。除副肿瘤综合征患者外，其余患者对免疫治疗反应良好。部分僵人综合征患者病程呈慢性化，预后不良。

abstractsObjective:To explore the clinical characteristics of neurological syndrome associated with anti-glutamic acid decarboxylase (GAD) antibodies (Abs).Methods:Six patients with neurological syndrome associated with anti-GAD-Abs admitted to Department of Neurology, Henan Provincial People's Hospital from January 2019 to October 2022 were chosen. The clinical manifestations, imaging and laboratory results, therapeutic schedules, and follow-up prognoses of these patients were collected and summarized.Results:Three females and 3 males were included, with onset age of (54.3±17.7) years. Three patients had stiff-person syndrome (SPS), 1 had limbic encephalitis+generalized epilepsy, 1 had extralimbic encephalitis+occipital epilepsy, and 1 had cerebellar ataxia who was diagnosed with paraneoplastic syndrome associated with small cell lung cancer. Four patients had elevated level of thyroid peroxidase antibodies, and 1 patient was positive for overlapping anti-gamma aminobutyric acid B receptor antibodies and Amphiphysin antibodies. Two patients with SPS had failed lumbar puncture; 1 had slightly increased white blood cells and proteins in cerebrospinal fluid (CSF); the remaining 3 patients were basically normal. Specific oligoclonal bands in CSF were observed in 2 patients. Brain MRI showed abnormal signals in the bilateral occipital lobes in 1 patient, and no specific inflammatory lesions in other patients. All patients accepted corticosteroids and intravenous immunoglobulin/plasma exchange therapies; except for the one with paraneoplastic syndrome associated with small cell lung cancer, the remaining 5 patients had improved modified Rankin scale (mRs) scores at discharge and received long-term immunotherapy. Two patients with SPS had gradually aggravated symptoms, and mRs scores reached 5 at the last follow-up (one for 3 years and the other one for 2 years).Conclusions:The clinical manifestations of patients with neurological syndrome associated with anti-GAD-Abs include SPS, limbic encephalitis, extralimbic encephalitis, epilepsy and cerebellar ataxia; some of these patients have paraneoplastic syndromes. Immunotherapies are effective except for these patients with paraneoplastic syndromes. Some patients with SPS tend to have a chronic course and a poor prognosis.