Departments of Neurology (AIM, JNC, AG, JL) and Otorhinolaryngology (AMA), Coimbra University Hospital Centre, Coimbra, Portugal; and Department of Neurology and Ophthalmology (EE), Michigan State University, East Lansing, Michigan.
J Neuroophthalmol. 2018 Mar;38(1):32-35. doi: 10.1097/WNO.0000000000000547.
An immune attack by anti-glutamic acid decarboxylase (GAD) antibodies is believed to cause a deficiency in gamma-aminobutyric acid-mediated neurotransmission in the cerebellum. This, in turn, leads to several eye movement disorders, including spontaneous downbeat (DBN) and periodic alternating nystagmus. We describe a 68-year-old diabetic woman with disabling paroxysmal positioning upbeat nystagmus (UBN) exclusively in the supine position, associated with asymptomatic spontaneous DBN, alternating skew deviation and hyperactive vestibulo-ocular reflex responses on head impulse testing, in whom high titers of anti-GAD antibodies were detected. After treatment with intravenous immunoglobulin, a complete resolution of positioning UBN and spontaneous DBN occurred, along with a decrease in anti-GAD antibody titers. Positioning UBN in this case may reflect a transient disinhibition of the central vestibular pathways carrying posterior semicircular canal signals, due to lack of normal inhibitory input from the cerebellar nodulus/uvula. Immunoglobulin restored cerebellar inhibitory output, possibly by improving gamma-aminobutyric acid neurotransmission.
人们认为,谷氨酸脱羧酶 (GAD) 抗体的免疫攻击会导致小脑中γ-氨基丁酸介导的神经递质传递减少。这反过来又导致了几种眼球运动障碍,包括自发性下跳(DBN)和周期性交替性眼球震颤。我们描述了一位 68 岁的糖尿病女性,她在仰卧位时出现了使人无法活动的阵发性位置性上跳性眼球震颤(UBN),同时伴有无症状的自发性 DBN、交替性斜偏和在摇头试验时亢进的前庭眼反射反应,检测到她的抗 GAD 抗体滴度很高。静脉注射免疫球蛋白治疗后,位置性 UBN 和自发性 DBN 完全缓解,同时抗 GAD 抗体滴度下降。在这种情况下,位置性 UBN 可能反映了由于小脑小结/绒球缺乏来自小脑蚓部/绒球的正常抑制性输入,导致携带后半规管信号的中枢前庭通路出现短暂性去抑制。免疫球蛋白通过改善γ-氨基丁酸神经递质传递恢复了小脑抑制性输出。