抗体阳性的原发性自身免疫性小脑共济失调患者的临床特征  

Clinical characteristics of primary autoimmune cerebellar ataxia patients with autoantibodies

作　　者：刘曼歌 任海涛[1] 关鸿志[1] 范思远[1] 杨英麦[1] 朱以诚[1] 崔丽英[1] Liu Mange;Ren Haitao;Guan Hongzhi;Fan Siyuan;Yang Yingmai;Zhu Yicheng;Cui Liying(Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院神经科,北京100730

出　　处：《中华神经科杂志》2025年第1期55-63,共9页Chinese Journal of Neurology

基　　金：北京协和医院中央高水平医院临床科研专项(2022-PUMCH-B-120);中国医学科学院医学与健康科技创新工程项目(CIFMS2021-I2M-1-003)。

摘　　要：目的分析抗体阳性的原发性自身免疫性小脑共济失调(PACA)患者的临床特征和预后情况。方法收集2013年3月至2023年12月于北京协和医院神经科诊治且符合修订的PACA诊断标准的患者,对患者采用基于细胞底物和基于组织底物的检测法进行抗小脑抗体的检测。分析患者的症状学、神经影像学及脑脊液检查结果特点,并随访其预后情况。末次随访改良Rankin量表(mRS)评分≤2分为预后良好,共济失调症状好转或稳定至少2个月后再次加重定义为复发。结果共纳入20例PACA患者,其中男性7例,起病年龄为48.4(22.8,59.3)岁。步态共济失调是PACA患者最常见的小脑症状,小脑外神经系统受累表现包括锥体束征阳性、周围神经/神经根病、复视等。脑脊液白细胞升高及特异性寡克隆区带阳性分别见于4/16和7/15的患者。患者的头核磁共振成像检查示8例患者无明显异常,9例提示小脑萎缩,3例提示大脑或小脑存在异常信号。患者的血清和(或)脑脊液中共检测出9种抗小脑抗体,其中以抗Homer同源蛋白3抗体最为多见(7例)。经过免疫治疗后,13/17的患者症状好转。经过37.5(21.0,93.0)个月的随访,患者末次中位mRS评分为3分,8例(8/20)患者达到良好预后。有6例(6/20)患者病情复发。结论PACA患者的临床表现具有一定异质性,抗神经抗体阳性与符合PACA诊断标准是确诊该病的主要依据。免疫治疗对多数患者有效,但仍有相当比例患者未达到长期功能的良好预后。Objective To analyze the clinical characteristics and prognosis of primary autoimmune cerebellar ataxia(PACA)patients with autoantibodies.Methods Patients from the Department of Neurology,Peking Union Medical College Hospital(from March 2013 to December 2023)who met the modified diagnostic criteria of PACA were collected.Cell based assay and tissue based assay were used to detect anti-cerebellar antibodies.The clinical features,results of neuroimaging,cerebrospinal fluid examinations and the prognosis of the patients were analyzed.Modified Rankin Scale(mRS)score≤2 at the last follow-up was defined as a favorable prognosis.Exacerbation of cerebellar ataxia after clinical improvement or stabilization for at least 2 months was defined as relapse.Results A total of 20 patients were included,including 7 males.The onset age was 48.4(22.8,59.3)years.Gait ataxia was the most common cerebellar symptom.Extracerebellar neurological abnormalities included pyramidal sign,peripheral neuropathy/radiculopathy and diplopia.Elevated cerebrospinal fluid white blood cells and positive specific oligoclonal bands were observed in 4/16 and 7/15 of patients,respectively.The brain magnetic resonance imaging examination of the patients showed that 8 patients had no obvious abnormalities,9 patients showed cerebellar atrophy,and 3 patients showed abnormal signals in the brain or cerebellum.A total of 9 different anti-cerebellar antibodies were detected in the patient′s serum and(or)cerebrospinal fluid,with the most common being anti-Homer-3 antibodies(n=7).After immunotherapy,13/17 of patients improved.After 37.5(21.0,93.0)months of follow-up,the median mRS score of the patients was 3,and 8 patients(8/20)achieved good prognosis and 6 patients experienced disease recurrence.Conclusions The clinical manifestations of PACA patients have certain heterogeneity,and positive anti-neuroantibodies and meeting PACA diagnostic criteria are the main basis for diagnosing the disease.Immunotherapy is effective for most patients,but there is still a c

关 键 词：小脑共济失调 神经系统自身免疫性疾病 预后 抗小脑抗体 

分 类 号：R742.82[医药卫生—神经病学与精神病学]