抗GAD65抗体相关僵人综合征4例临床分析

Anti-GAD65 antibody-associated stiff-person syndrome:A clinical analysis of four cases

目的探讨抗GAD65抗体相关僵人综合征的临床、电生理、治疗方案及预后。方法对2019年12月-2023年3月在空军军医大学第一附属医院神经内科就诊的4例抗GAD65抗体相关僵人综合征进行回顾性分析,探讨其临床表型、电生理特征、治疗方法和预后。结果4例抗GAD65抗体相关僵人综合征患者均为女性,年龄49~74岁,均存在延迟诊断(1~7年),4例均存在中轴肌静息态运动单位电位发放。1例存在癫痫发作,1例存在小脑性共济失调,1例伴1型糖尿病,3例伴桥本甲状腺炎。急性期,1例选择大剂量激素冲击,1例选择人免疫球蛋白冲击,2例选择小剂量激素。长程免疫治疗期,3例选择吗替麦考酚酯,1例选择定期人免疫球蛋白输注。4例患者氯硝西泮及免疫调节治疗均有效。结论抗GAD65抗体相关僵人综合征多见于中老年女性,常见诊断延迟,可同时存在其它临床表型及自身免疫性疾病,中轴肌多存在典型静息态运动单位电位发放,氯硝西泮及免疫治疗有效。

Objective To investigate the clinical features,electrophysiological results,treatment regimen,and prognosis of anti-GAD65 antibody-associated stiff-person syndrome.Methods A retrospective analysis was performed for four patients with anti-GAD65 antibody-associated stiff-person syndrome who attended Department of Neurology,The First Affiliated Hospital of Air Force Medical University,from December 2019 to March 2023.Clinical phenotype,electrophysiological characteristics,treatment methods and prognosis were analyzed.Results All four patients with anti-GAD65 antibody-associated stiff-person syndrome were female,with an age of 49-74 years,and delayed diagnosis(1-7 years)was observed in all four patients.Among the four patients,one had epilepsy,one had cerebellar ataxia,one had type 1 diabetes,and three had Hashimoto's thyroiditis.In the acute stage of the disease,one patient received high-dose hormone shock therapy,one received human immunoglobulin therapy,and two received low-dose hormone.As for long-term immunotherapy,three patients were given mycophenolate mofetil,and one patient was given regular infusion of human immunoglobulin.All four patients showed response to clonazepam and immunoregulatory therapy.Conclusion Anti-GAD65 antibody-associated stiff-person syndrome is often observed in middle-aged and elderly women,with delayed diagnosis in most cases.Patients may also have other clinical phenotypes and autoimmune diseases,and typical discharge of motor unit potential often exits in axial muscles.Clonazepam and immunotherapy are effective treatment methods for this disease.