Department of Neurology, the Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou, China.
Neuroimmunomodulation. 2019;26(5):234-238. doi: 10.1159/000502695. Epub 2019 Oct 29.
To explore the diversity and clinical features of anti-glutamate decarboxylase (GAD) antibody-associated neurological diseases.
Clinical data of a series of 5 patients positive for anti-GAD antibodies were retrospectively analyzed.
All 5 patients were female, with a median age of 41.5 years (range 19-60 years). Their neurological symptoms included stiff-person syndrome (SPS), encephalitis, myelitis, cramp, visual loss, and paresthesia. Three patients (60%) were diagnosed with tumors, 2 cases of thymic tumor and 1 of breast cancer. On immunohistochemistry for tumor pathology, expression of GAD65 was found only in 1 patient. Four patients (80%) had abnormal brain MRI findings. All patients received immunotherapy and improved significantly after treatment, but 4 (80%) then experienced a relapse.
Neurological manifestations in anti-GAD-positive patients are diverse and include SPS, encephalitis, myelitis, cramp, visual loss, and paresthesia.
探讨抗谷氨酸脱羧酶（GAD）抗体相关神经疾病的多样性和临床特征。
回顾性分析了一系列 5 例抗 GAD 抗体阳性患者的临床资料。
5 例患者均为女性，中位年龄 41.5 岁（19-60 岁）。其神经症状包括僵人综合征（SPS）、脑炎、脊髓炎、痉挛、视力丧失和感觉异常。3 例（60%）患者诊断为肿瘤，2 例胸腺瘤，1 例乳腺癌。肿瘤病理免疫组化发现仅 1 例 GAD65 表达。4 例（80%）患者脑 MRI 异常。所有患者均接受免疫治疗，治疗后均明显改善，但 4 例（80%）复发。
抗 GAD 阳性患者的神经表现多样，包括 SPS、脑炎、脊髓炎、痉挛、视力丧失和感觉异常。
