急性起病自身免疫性小脑共济失调患者的临床特点及治疗转归  

The clinical characteristics and therapeutic responses of patients presenting with acute-onset autoimmune cerebellar ataxia

作　　者：李再利[1] 余年[2] 余传勇[2] 马文颖 黄舒扬[2] 葛剑青[2] 苗爱亮 LI Zaili;YU Nian;YU Chuanyong;MA Wenying;HUANG Shuyang;GE Jianqing;MIAO Ailiang(不详;Department of Neurology,Video-Electroencephalogram,The Affiliated Brain Hospital of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]徐州市中心医院神经内科,221009 [2]南京医科大学附属脑科医院神经内科视频脑电图室,210029

出　　处：《中国神经免疫学和神经病学杂志》2025年第2期125-130,共6页Chinese Journal of Neuroimmunology and Neurology

基　　金：国家自然科学基金(青年基金)资助项目(81501126);江苏省卫生健康委员会面上项目(M2022065);南京市卫生健康委员会一般项目(YKK21110);南京脑科医院青年人才项目。

摘　　要：目的分析急性起病的自身免疫性小脑共济失调(autoimmune cerebellar ataxia,ACA)患者的临床特点及治疗转归。方法收集2021年11月至2024年3月南京脑科医院收治的5例ACA患者,其中男4例,女1例,年龄16~49岁。回顾性分析患者的临床症状、检查结果、治疗及转归资料。结果5例患者均有前驱症状,以发热最为常见,其次为头痛及上呼吸道感染。临床表现为步态不稳5例,构音障碍3例,眩晕1例,左右摇头1例。3例伴有小脑外神经系统表现,包括视物模糊、周围神经病变及认知功能障碍。3例检测出抗小脑抗体,其中抗Homer3抗体、抗ATP1A3抗体、抗Hu抗体阳性各1例。4例脑脊液白细胞增高呈淋巴细胞性炎症,5例脑脊液蛋白轻-中度增高,3例脑脊液特异性寡克隆区带阳性。1例颅脑MRI显示一过性右侧小脑半球点状高信号,长期随访出现小脑及脑桥萎缩。所有患者接受一线免疫治疗及吗替麦考酚酯(mycophenolate mofetil,MMF)长程免疫治疗。5例均对一线免疫治疗有反应,其中4例预后良好,1例抗Homer3抗体阳性患者预后不良。结论急性起病的ACA患者均有前驱症状,以步态不稳的小脑共济失调为主要表现;脑脊液呈炎症或免疫反应,抗小脑抗体和/或寡克隆带阳性;一线免疫治疗一般有效,多数患者经MMF长程免疫治疗无复发,少数患者预后不佳,推测可能与抗体类型有关;应对肿瘤筛查阴性的副肿瘤小脑变性患者进行长期随访和定期复查。Objective To investigate the clinical characteristics and therapeutic responses in patients with acute-onset autoimmune cerebellar ataxia(ACA).Methods Five ACA patients admitted to Nanjing Brain Hospital during the period from November 2021 to March 2024 were enlisted,among whom there were four males and one female,aged ranging from 16 to 49 years.The data of clinical symptoms,examination results,treatment and outcome were retrospectively analyzed.Results All five patients presented with prodromal symptoms,fever was the most common,followed by headache and upper respiratory tract infection.The clinical manifestations included gait instability in 5 cases,dysarthria in 3 cases,vertigo in 1 case,and head shaking in 1 case.Three cases exhibited extracerebellar neurological manifestations,such as blurred vision,peripheral neuropathy,and cognitive dysfunction.Anti-cerebellar antibodies were detected in 3 cases:one patient tested positive for anti-Homer3 antibody;one patient tested positive for anti-ATP1A3 antibody;and another patient tested positive for anti-Hu antibody.Five patients underwent cerebrospinal fluid examination,revealing increased white blood cells and lymphocytic inflammation in four cases,mild-to-moderate protein elevation in five cases,and positive specific oligoclonal bands(SOB)in three cases.One patient exhibited transient punctate hyperintensity in the right cerebellar hemisphere on brain MRI,while long-term follow-up revealed cerebellar and pontine atrophy.All patients underwent first-line immunotherapy and long-term immunotherapy with mycophenolate mofetil(MMF).Four patients experienced no recurrence and had favorable prognosis,whereas the patient with positive anti-Homer3 antibody encountered two recurrences and had a poor prognosis.Conclusions All patients with acute-onset ACA present with prodromal symptoms,mainly characterized by gait instability and cerebellar ataxia.Inflammatory or immune responses can be observed in the cerebrospinal fluid,along with positive findings of cerebellar antibodi

关 键 词：小脑共济失调 自身免疫 临床特点 免疫治疗 预后 自身抗体 

分 类 号：R742.8[医药卫生—神经病学与精神病学]