Ikeda J, Harada T, Kamei H, Nakamura S
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
No To Shinkei. 1998 Feb;50(2):177-80.
We report a 52-year-old woman with Sjögren syndrome from the age of 46, developed cerebellar ataxia, autonomic dysfunction and dysarthria at 50. She had no family history, and all known causes of cerebellar disease were excluded. Serum of the patient contained autoantibodies directed against glutamic acid decarboxylase (GAD) which was an enzyme involved in the biosynthesis of GABA. She also had autoantibodies that were specific with Sjögren syndrome (SS-A, anti-nuclear antibody). Anti-GAD antibody changed into negative after high dose intravenous and oral corticosteroid therapy, but symptoms did not improve. Western blot method revealed abnormal bands to human neuroblastoma cell line (10, 43, 49 kDa), considered relatively specific to nervous tissue. In this case cerebellar ataxia and atrophy were caused by autoimmune pathogenesis including cerebellar GABAergic system and central nerve cells.
我们报告了一名52岁女性，她从46岁起患有干燥综合征，50岁时出现小脑共济失调、自主神经功能障碍和构音障碍。她没有家族病史，所有已知的小脑疾病病因均被排除。患者血清中含有针对谷氨酸脱羧酶（GAD）的自身抗体，GAD是一种参与γ-氨基丁酸（GABA）生物合成的酶。她还具有干燥综合征特异性的自身抗体（SS-A、抗核抗体）。高剂量静脉和口服皮质类固醇治疗后，抗GAD抗体转为阴性，但症状并未改善。蛋白质印迹法显示人神经母细胞瘤细胞系出现异常条带（10、43、49 kDa），这些条带被认为对神经组织具有相对特异性。在该病例中，小脑共济失调和萎缩是由包括小脑GABA能系统和中枢神经细胞在内的自身免疫发病机制引起的。
