From the Department of Neurology (B.D., Y.Q., X.L., H.Y., X. Zhang, W.Y., S.D., L.J., X.C.), Huashan Hospital, Fudan University, Shanghai; National Center for Neurological Disorders (B.D., Y.Q., X.L., H.Y., X. Zhang, W.Y., S.D., L.J., X.C.), Shanghai, China; Department of Neurology (M.C.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands; Institute of Neurology (X.L., X. Zhang, X.C.), Fudan University, Shanghai; Department of Neurology (H.H.), Lishui Hospital, Zhejiang University School of Medicine; Department of Neurology (X. Zhao), Qilu Hospital, Shandong University, Jinan; Department of Radiology (S.C.), Shanghai East Hospital, Tongji University School of Medicine; and Human Phenome Institute (X.C.), Fudan University, Shanghai, China.
Neurol Neuroimmunol Neuroinflamm. 2022 Mar 25;9(3). doi: 10.1212/NXI.0000000000001158. Print 2022 May.
To characterize the clinical and neuroimaging phenotypes of patients with autoantibodies to γ-aminobutyric acid type A receptor (GABAR).
Ten patients with autoantibodies against GABAR from Huashan Hospital Autoimmune Encephalitis cohort were identified. We used MRI assessments and clinical examinations to summarize major clinical profile and visualize and quantify lesion distribution features. The relationship between clinical features, neuroimaging phenotypes, and topology of GABAR expression were further investigated.
The median age at onset of 10 patients (8 male patients and 2 female patients) with anti-GABAR encephalitis was 41.5 years (range: 17-73 years). All patients had prominent seizures and multifocal spotted or confluent lesions involved in limbic, frontal, and temporal lobes on brain MRI. Bilateral but asymmetric lesions in cingulate gyri were observed in all patients. These involved lesions could change dynamically with immunotherapies and relapse. Distribution of patients' brain MRI lesions was positively correlated with gene expression level of β3 subunit-containing GABAR (Spearman ρ = 0.864, = 0.001), the main target of autoantibodies. According to topology of lesions, patients with anti-GABAR encephalitis could be classified into 2 clinical-radiological types: confluent type with bilateral confluent lesions involved in almost all limbic, frontal, and temporal lobes and spotted type with multiple scattered small-to-medium patchy lesions. Patients with confluent type exhibited worse clinical presentations and outcomes when compared with those with spotted type (maximum modified Rankin scale [mRS]: 5 [5-5] vs 3.5 [3-4], respectively, = 0.008; follow-up mRS: 4 [2-6] vs 0.5 [0-1], respectively, = 0.016).
Anti-GABAR encephalitis has distinctive neuroimaging phenotype. Cingulate gyri were frequently involved in this disorder. The topology of lesions might be associated with the distribution of β3 subunit-containing GABAR and reflected patients' disease severity and outcomes.
描述γ-氨基丁酸 A 型受体（GABAR）自身抗体患者的临床和神经影像学表型。
从华山医院自身免疫性脑炎队列中确定了 10 名 GABAR 自身抗体患者。我们使用 MRI 评估和临床检查总结主要的临床特征，并可视化和量化病变分布特征。进一步研究了临床特征、神经影像学表型和 GABAR 表达拓扑之间的关系。
10 名抗 GABAR 脑炎患者（8 名男性和 2 名女性）的中位发病年龄为 41.5 岁（范围：17-73 岁）。所有患者均有明显的癫痫发作和多灶性斑点或融合性病变，累及脑 MRI 的边缘叶、额叶和颞叶。所有患者双侧但不对称的扣带回病变。这些病变可随免疫治疗和复发而动态变化。患者脑 MRI 病变的分布与自身抗体的主要靶标β3 亚单位包含的 GABAR 基因表达水平呈正相关（Spearman ρ=0.864， =0.001）。根据病变的拓扑结构，抗 GABAR 脑炎患者可分为 2 种临床放射学类型：双侧融合性病变，几乎累及所有边缘叶、额叶和颞叶；多发性散在中小斑片状病变的斑点型。与斑点型相比，融合型患者的临床表现和预后更差（最大改良 Rankin 量表[mRS]：5[5-5]与 3.5[3-4]， =0.008；随访 mRS：4[2-6]与 0.5[0-1]， =0.016）。
抗 GABAR 脑炎具有独特的神经影像学表型。扣带回经常受累于这种疾病。病变的拓扑结构可能与β3 亚单位包含的 GABAR 的分布有关，并反映了患者的疾病严重程度和预后。
