Cai Yun, Hua Zhijuan, Chen Yanan, Chen Xue, Liu Na, Liu Ting, Zhou Qianwen, Li Jinghua, Di Weiying
Department of Neurology, Affiliated Hospital of Hebei University, Baoding, China.
Department of Hepatobiliary Surgery, Affiliated Hospital of Hebei University, Baoding, China.
Front Immunol. 2025 Feb 13;16:1497695. doi: 10.3389/fimmu.2025.1497695. eCollection 2025.
This study aimed to investigate the clinical features of neuronal antibodies related to autoimmune cerebellar ataxia (ACA) and to provide guidance for the diagnosis and treatment of this disease.
Demographic and clinical data were collected from antibody-positive patients with ACA who were admitted to the Department of Neurology, Affiliated Hospital of Hebei University, from January 2018 to February 2023. A retrospective analysis on the clinical manifestations, laboratory examinations, imaging data, treatment, and prognosis was performed.
A total of six patients, including one man and five women, with a median age of 52.5 years, were enrolled in this study. All patients presented with dizziness and gait abnormalities with or without dysarthria. No tumor was found in these patients. Three patients were at the prodromal stage of infection, while one patient exhibited post-ACA fever symptoms and aggravated disease phenotypes. Three patients were positive for anti-glutamate decarboxylase (GAD), while one patient was positive for each of the anti-Tr, anti-mGluR1, and anti-Homer-3 antibodies. The white blood cell (WBC) count and the protein levels of the cerebrospinal fluid (CSF) were increased in four patients, which was in agreement with predominant lymphocytic inflammation. One patient displayed positive signals for CSF-specific oligoclonal proteins. Of the six patients, two were diagnosed with bilateral cerebellar atrophy, and two patients had nonspecific white matter changes. All of the patients received immunotherapy and rehabilitation treatment. Except for the Homer-3-positive patient, the remaining patients showed good prognosis. One patient relapsed.
ACA can be induced or aggravated by infection. The detection of neuronal antibodies is crucial for the precise diagnosis of ACA. Cerebellar system symptoms, such as dizziness, unsteady walking, nystagmus, and dysarthria, are the first and main manifestations of ACA. The head magnetic resonance imaging (MRI) in patients with ACA may be normal or may exhibit abnormalities including cerebellar atrophy and nonspecific white matter changes. Immunotherapy could be effective in most patients with ACA.
本研究旨在探讨与自身免疫性小脑共济失调（ACA）相关的神经元抗体的临床特征，为该病的诊断和治疗提供指导。
收集2018年1月至2023年2月在河北大学附属医院神经内科住院的ACA抗体阳性患者的人口统计学和临床资料。对临床表现、实验室检查、影像学数据、治疗及预后进行回顾性分析。
本研究共纳入6例患者，其中男性1例，女性5例，中位年龄52.5岁。所有患者均出现头晕和步态异常，伴或不伴有构音障碍。这些患者均未发现肿瘤。3例患者处于感染前驱期，1例患者出现ACA后发热症状且疾病表型加重。3例患者抗谷氨酸脱羧酶（GAD）阳性，1例患者抗Tr、抗代谢型谷氨酸受体1（mGluR1）和抗Homer-3抗体各1例阳性。4例患者白细胞（WBC）计数及脑脊液（CSF）蛋白水平升高，符合以淋巴细胞为主的炎症表现。1例患者CSF特异性寡克隆蛋白呈阳性信号。6例患者中，2例诊断为双侧小脑萎缩，2例患者有非特异性白质改变。所有患者均接受了免疫治疗和康复治疗。除Homer-3阳性患者外，其余患者预后良好。1例患者复发。
感染可诱发或加重ACA。神经元抗体检测对ACA的准确诊断至关重要。头晕、行走不稳、眼球震颤和构音障碍等小脑系统症状是ACA的首发及主要表现。ACA患者的头部磁共振成像（MRI）可能正常，也可能出现包括小脑萎缩和非特异性白质改变在内的异常。免疫治疗对大多数ACA患者可能有效。
