Bo Deng, Mengfei Cai, Yue Qiu, Xiaoni Liu, Hai Yu, Xiang Zhang, Huifen Huang, Xiuhe Zhao, Wenbo Yang, Siqi Dong, Lei Jin, Shuguang Chu, Xiangjun Chen
{"title":"具有GABAA受体自身抗体的自身免疫性脑炎的MRI特征:一个病例系列","authors":"Bo Deng, Mengfei Cai, Yue Qiu, Xiaoni Liu, Hai Yu, Xiang Zhang, Huifen Huang, Xiuhe Zhao, Wenbo Yang, Siqi Dong, Lei Jin, Shuguang Chu, Xiangjun Chen","doi":"10.1212/NXI.0000000000001158","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and objectives: </strong>To characterize the clinical and neuroimaging phenotypes of patients with autoantibodies to γ-aminobutyric acid type A receptor (GABA<sub>A</sub>R).</p><p><strong>Methods: </strong>Ten patients with autoantibodies against GABA<sub>A</sub>R 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 GABA<sub>A</sub>R expression were further investigated.</p><p><strong>Results: </strong>The median age at onset of 10 patients (8 male patients and 2 female patients) with anti-GABA<sub>A</sub>R 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 GABA<sub>A</sub>R (Spearman ρ = 0.864, <i>p</i> = 0.001), the main target of autoantibodies. According to topology of lesions, patients with anti-GABA<sub>A</sub>R 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, <i>p</i> = 0.008; follow-up mRS: 4 [2-6] vs 0.5 [0-1], respectively, <i>p</i> = 0.016).</p><p><strong>Discussion: </strong>Anti-GABA<sub>A</sub>R 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 GABA<sub>A</sub>R and reflected patients' disease severity and outcomes.</p>","PeriodicalId":520720,"journal":{"name":"Neurology(R) neuroimmunology & neuroinflammation","volume":" ","pages":""},"PeriodicalIF":7.5000,"publicationDate":"2022-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d7/5c/NEURIMMINFL2021039442.PMC8958939.pdf","citationCount":"6","resultStr":"{\"title\":\"MRI Characteristics of Autoimmune Encephalitis With Autoantibodies to GABAA Receptor: A Case Series.\",\"authors\":\"Bo Deng, Mengfei Cai, Yue Qiu, Xiaoni Liu, Hai Yu, Xiang Zhang, Huifen Huang, Xiuhe Zhao, Wenbo Yang, Siqi Dong, Lei Jin, Shuguang Chu, Xiangjun Chen\",\"doi\":\"10.1212/NXI.0000000000001158\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background and objectives: </strong>To characterize the clinical and neuroimaging phenotypes of patients with autoantibodies to γ-aminobutyric acid type A receptor (GABA<sub>A</sub>R).</p><p><strong>Methods: </strong>Ten patients with autoantibodies against GABA<sub>A</sub>R 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 GABA<sub>A</sub>R expression were further investigated.</p><p><strong>Results: </strong>The median age at onset of 10 patients (8 male patients and 2 female patients) with anti-GABA<sub>A</sub>R 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 GABA<sub>A</sub>R (Spearman ρ = 0.864, <i>p</i> = 0.001), the main target of autoantibodies. According to topology of lesions, patients with anti-GABA<sub>A</sub>R 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, <i>p</i> = 0.008; follow-up mRS: 4 [2-6] vs 0.5 [0-1], respectively, <i>p</i> = 0.016).</p><p><strong>Discussion: </strong>Anti-GABA<sub>A</sub>R 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 GABA<sub>A</sub>R and reflected patients' disease severity and outcomes.</p>\",\"PeriodicalId\":520720,\"journal\":{\"name\":\"Neurology(R) neuroimmunology & neuroinflammation\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":7.5000,\"publicationDate\":\"2022-03-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d7/5c/NEURIMMINFL2021039442.PMC8958939.pdf\",\"citationCount\":\"6\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurology(R) neuroimmunology & neuroinflammation\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1212/NXI.0000000000001158\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/5/1 0:00:00\",\"PubModel\":\"Print\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology(R) neuroimmunology & neuroinflammation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1212/NXI.0000000000001158","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/5/1 0:00:00","PubModel":"Print","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 6
摘要
背景与目的:探讨γ-氨基丁酸A型受体(GABAAR)自身抗体患者的临床和神经影像学表型。方法:对10例华山医院自身免疫性脑炎患者进行GABAAR自身抗体检测。我们使用MRI评估和临床检查来总结主要的临床特征，并可视化和量化病变分布特征。进一步研究临床特征、神经影像学表型和GABAAR表达拓扑之间的关系。结果:10例抗gabaar脑炎患者(男8例，女2例)发病年龄中位数为41.5岁(范围17 ~ 73岁)。所有患者在脑MRI上均有明显的癫痫发作和涉及边缘、额叶和颞叶的多灶斑点或融合性病变。所有患者均出现双侧但不对称的扣带回病变。这些受累病变可随着免疫治疗和复发而动态改变。患者脑MRI病变分布与自身抗体的主要靶标β3亚基GABAAR基因表达水平呈正相关(Spearman ρ = 0.864, p = 0.001)。根据病变的拓扑学，抗gabaar脑炎患者可分为两种临床-影像学类型:融合型，双侧融合型病变几乎累及所有边缘、额叶和颞叶;斑点型，多发分散的中小斑块状病变。与斑点型患者相比，融合型患者的临床表现和预后更差(最大修正Rankin量表[mRS]: 5 [5-5] vs 3.5 [3-4]， p = 0.008;随访mRS: 4 [2-6] vs 0.5 [0-1]， p = 0.016)。讨论:抗gabaar脑炎具有独特的神经影像学表型。扣带回常与这种疾病有关。病变的拓扑结构可能与含有β3亚基的GABAAR的分布有关，反映了患者疾病的严重程度和预后。
MRI Characteristics of Autoimmune Encephalitis With Autoantibodies to GABAA Receptor: A Case Series.
Background and objectives: To characterize the clinical and neuroimaging phenotypes of patients with autoantibodies to γ-aminobutyric acid type A receptor (GABAAR).
Methods: Ten patients with autoantibodies against GABAAR 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 GABAAR expression were further investigated.
Results: The median age at onset of 10 patients (8 male patients and 2 female patients) with anti-GABAAR 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 GABAAR (Spearman ρ = 0.864, p = 0.001), the main target of autoantibodies. According to topology of lesions, patients with anti-GABAAR 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, p = 0.008; follow-up mRS: 4 [2-6] vs 0.5 [0-1], respectively, p = 0.016).
Discussion: Anti-GABAAR 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 GABAAR and reflected patients' disease severity and outcomes.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
