Case Report: Extraocular muscles paralysis associated with GAD65 antibody: a case series study.
Case Report: Extraocular muscles paralysis associated with GAD65 antibody: a case series study.
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DOI：
10.3389/fimmu.2023.1256089
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发表时间：
2023
影响因子：
7.3
通讯作者：
He, Dan
中科院分区：
文献类型：
--
作者：
Zhang, Heyu;Yue, Jiajia;Lian, Chun;Long, Youming;He, Dan
目的探讨谷氨酸脱羧酶65(GAD65)抗体阳性的眼外症状患者的临床表现及其可能机制。检测患者血清和脑脊液中GAD65抗体的存在。通过磁共振成像(MRI)评估参与眼球运动的脑和眼结构。肌电(EMG)，特别是重复神经刺激(RNS)和新斯的明试验用于鉴别诊断。此外，用免疫荧光技术证实了GAD65抗体与肌肉组织的相互作用。每个患者都表现出类似于眼外肌无力(MG)的症状，两个人报告了复视，两个人经历了上睑下垂。在血清或脑脊液中均检测到GAD65抗体，表明GAD65抗体可与猴小脑片和小鼠肌片结合。通过核磁共振对大脑和眼外肌的神经成像显示没有异常，所有患者的新斯的明试验、肌电RNS试验和MG抗体的存在均为阴性。然而，其中四名患者的甲状腺相关抗体被发现异常。我们的结果表明，GAD65抗体不仅与脑炎、小脑性共济失调或由于GABA能传递减少引起的僵人综合征有关，而且与复视和上睑下垂有关。因此，对于无针对神经肌肉接头成分的致病抗体的眼外肌麻痹患者应给予更多的重视。
To explore the clinical manifestations of glutamic acid decarboxylase 65 (GAD65) antibody-positive patients with extraocular symptoms and the possible mechanism. Assays for the presence of GAD65 antibodies were performed on patients’ serum and cerebral spinal fluid (CSF). The brain and ocular structures involved in eye movement were assessed via magnetic resonance imaging (MRI). Tests such as electromyography (EMG), particularly repetitive nerve stimulation (RNS), and neostigmine tests were utilized for differential diagnosis. Additionally, the interaction of GAD65 antibodies with muscle tissue was confirmed using immunofluorescence techniques. Each patient exhibited symptoms akin to extraocular myasthenia gravis (MG), with two individuals reporting diplopia and two experiencing ptosis. GAD65 antibodies were detected in either the serum or CSF, which were shown to bind with monkey cerebellum slides and mouse muscle slides. Neuroimaging of the brain and extraocular muscles via MRI showed no abnormalities, and all patients tested negative for the neostigmine test, RNS via EMG, and the presence of MG antibodies. However, thyroid-related antibodies were found to be abnormal in four of the patients. Our results showed that GAD65 antibodies are not only associated with encephalitis, cerebellum ataxia or stiff-person syndrome caused by the decrease of GABAergic transmission but also diplopia and ptosis. Therefore, we should pay more attention to extraocular muscle paralysis patients without pathogenic antibodies directed against the components of neuromuscular junctions.
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