Analysis of clinical characteristics of antiglutamic acid decarboxylase 65 antibody-positive autoimmune-associated epilepsy
10.3760/cma.j.cn113694-20240423-00292
- VernacularTitle:抗谷氨酸脱羧酶65抗体阳性的自身免疫相关性癫痫的临床特征分析
- Author:
Huiting WU
1
;
Shanshan HUANG
;
Xiaoyan LIU
;
Suiqiang ZHU
Author Information
1. 华中科技大学同济医学院附属同济医院神经内科，武汉430030
- Keywords:
Glutamic acid decarboxylase;
Encephalitis;
Autoimmune diseases of the nervous system;
Autoimmune-associated epilepsy
- From:
Chinese Journal of Neurology
2024;57(9):959-967
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical manifestations, auxiliary examinations, treatment, and outcomes of autoimmune-associated epilepsy (AAE) with anti-glutamic acid decarboxylase 65 (GAD65) antibodies.Methods:Nine patients diagnosed with AAE with anti-GAD65 antibodies between July 2019 and December 2023 at the Department of Neurology of Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, were enrolled. Their clinical data and prognosis were retrospectively analyzed.Results:The onset age of these 9 cases was 13.0-59.0 (29.0±13.4) years, with 8 females and 1 male. The main clinical phenotypes at onset included limbic encephalitis/extralimbic encephalitis (6 cases) and chronic epilepsy (3 cases, of whom 1 case was accompanied with stiff person syndrome). The former often demonstrated T 2/fluid attenuated inversion recovery (FLAIR) hyperintensities and enlargement of hippocampus and amygdala (5 cases), and may present with concomitant meningoencephalitis (2 cases) or hypertrophic pachymeningitis (1 case). The latter showed normal (2 cases) or increased T 2/FLAIR signals in the hippocampal tails (1 case) in magnetic resonance imaging. Electroencephalogram findings were usually characterized by slow activities (6 cases) and temporal epileptiform discharges (6 cases). Five cases concurrently presented with one or more other autoimmune diseases, including the autoimmune polyendocrine syndrome type Ⅱ in 1 case. All cases received first-line immunotherapy and 7 cases received long-term immunosuppressive agents. Eight cases were followed up for 5-45 months and 2 cases experienced relapse of autoimmune encephalitis (presented with new-onset seizures). At the last follow-up, all cases achieved favourable outcomes according to the modified Rankin Scale scores (all≤2) and 4 patients had reduced seizures, of whom 2 were seizure-free. Conclusions:Anti-GAD65 antibody-positive AAE is mainly composed of postencephalitic epilepsy and chronic temporal lobe epilepsy. The co-occurrence of systemic autoimmune diseases is common, and meningeal lesions sometimes can be involved in MRI findings. Patients usually have poor response to immunotherapy and anti-seizure medication,and some postencephalitic epilepsy patients who receive early immunotherapy and long-term immunosuppressants can achieve sustained seizure freedom.
