Zhang Zhanwei, Deng Xiaolu, Guo Dandan, Zhao Jie, Li Jian, He Fang, Yang Lifen, Peng Jing
Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, Hunan Province, People's Republic of China.
Department of Neurosurgery, Xiangya Hospital of Central South University, Changsha, Hunan Province, People's Republic of China.
Immunotargets Ther. 2025 Apr 9;14:465-474. doi: 10.2147/ITT.S514617. eCollection 2025.
Anti-metabotropic glutamate receptor 2 (mGluR2)-related diseases are rare autoimmune disorders of the central nervous system that primarily affect the cerebellum and are occasionally associated with malignancies.
Data, including demographics, symptoms, blood and cerebrospinal fluid (CSF) tests, and brain magnetic resonance imaging (MRI), were retrospectively collected from two patients with informed consent at Xiangya Hospital from February 2024 to October 2024. Autoantibodies associated with autoimmune encephalitis were tested using cell-based assays. The literature describing anti-mGluR2 antibody-related diseases was searched for in PubMed and five cases were reviewed.
Two cases of anti-mGluR2 antibody-related diseases were reported: one with acute cerebellitis and the other with refractory seizures. Brain MRI showed cerebellar involvement in the cerebellitis patient. Anti-mGluR2 antibodies were detected in the serum but not in the CSF of both cases, and both responded well to immunotherapy. A review of five patients (all female, aged 3-78 years) found four with cerebellar ataxia or cerebellitis and one with immune-related epilepsy. Common symptoms included dysarthria, gait instability, and gaze/nystagmus, while seizures were rare. MRI revealed cerebellar involvement in most cases. Anti-mGluR2 antibodies were present in the serum of all patients but only in the CSF of two. Three patients responded well to immunosuppressive treatment, and two had malignancies.
Anti-mGluR2 antibody-related diseases are autoimmune disorders primarily characterized by ataxic manifestations, though seizures may also occur. The effectiveness of immunosuppressive treatment is uncertain and screening for tumors is necessary.
抗代谢型谷氨酸受体2（mGluR2）相关疾病是罕见的中枢神经系统自身免疫性疾病，主要影响小脑，偶尔与恶性肿瘤相关。
回顾性收集了2024年2月至2024年10月在湘雅医院的2例患者的数据，包括人口统计学资料、症状、血液和脑脊液（CSF）检查以及脑磁共振成像（MRI），所有患者均签署了知情同意书。使用基于细胞的检测方法检测与自身免疫性脑炎相关的自身抗体。在PubMed上搜索了描述抗mGluR2抗体相关疾病的文献，并对5例病例进行了综述。
报告了2例抗mGluR2抗体相关疾病：1例患有急性小脑炎，另1例患有难治性癫痫。脑MRI显示小脑炎患者的小脑受累。2例患者的血清中均检测到抗mGluR2抗体，但脑脊液中未检测到，且2例患者对免疫治疗反应良好。对5例患者（均为女性，年龄3 - 78岁）的综述发现，4例患有小脑共济失调或小脑炎，1例患有免疫相关性癫痫。常见症状包括构音障碍、步态不稳和凝视/眼球震颤，癫痫发作较少见。MRI显示大多数病例的小脑受累。所有患者的血清中均存在抗mGluR2抗体，但仅2例患者的脑脊液中存在。3例患者对免疫抑制治疗反应良好，2例患有恶性肿瘤。
抗mGluR2抗体相关疾病是主要以共济失调表现为特征的自身免疫性疾病，尽管也可能发生癫痫发作。免疫抑制治疗的有效性尚不确定，有必要进行肿瘤筛查。
