Department of Neurology, Parkinson's Disease Center and Movement Disorders Clinic, Baylor College of Medicine, Houston, TX, USA.
Department of Internal Medicine, University of Guanajuato, 20 de Enero no. 927, C.P. 37320, León, Guanajuato, Mexico.
J Neural Transm (Vienna). 2017 Oct;124(10):1171-1182. doi: 10.1007/s00702-017-1754-3. Epub 2017 Jul 8.
Several neurological syndromes have been recognized associated to GAD antibodies. Among those disorders, cerebellar ataxia (CA) is one of the most common, along with stiff-person syndrome. Patients with GAD associated CA present with a progressive pancerebellar syndrome, with a subacute or chronic evolution, along with other neurological manifestations such as stiffness, oculomotor dysfunction, epilepsy, and cognitive dysfunction. These symptoms may be preceded by the so-called "brainstem attacks", where manifestations consistent with transient dysfunction of the brainstem may be observed. These patients frequently have extra-neurologic autoimmune manifestations such as diabetes mellitus type 1, polyendocrine autoimmune syndrome, pernicious anemia, vitiligo, etc. A proportion of patients may present with an underlying neoplasia, but the course is less aggressive than in those patients with classical paraneoplastic CA with onconeural antibodies. The diagnosis is based on the present of high serum and CSF titers of GAD antibodies, with intrathecal production of such antibodies. Treatment is aimed to decrease the immunological response with intravenous immunoglobulin, steroids, rituximab and oral immunosuppressive drugs. A subacute presentation and rapid initiation of immunotherapy seem to be the predictors of a favorable clinical response.
已发现几种与 GAD 抗体相关的神经综合征。在这些疾病中，小脑共济失调（CA）是最常见的疾病之一，还有僵人综合征。与 GAD 相关的 CA 患者表现为进行性全小脑综合征，呈亚急性或慢性进展，伴有其他神经系统表现，如僵硬、眼球运动功能障碍、癫痫和认知功能障碍。这些症状可能先于所谓的“脑干发作”，在此期间可能观察到与脑干短暂功能障碍一致的表现。这些患者常伴有其他神经自身免疫表现，如 1 型糖尿病、多内分泌自身免疫综合征、恶性贫血、白癜风等。一部分患者可能存在潜在的肿瘤，但与具有神经肿瘤抗体的经典副肿瘤性 CA 患者相比，病程不那么侵袭性。诊断基于血清和 CSF 中存在高滴度的 GAD 抗体，以及这些抗体的鞘内产生。治疗旨在通过静脉注射免疫球蛋白、类固醇、利妥昔单抗和口服免疫抑制剂来降低免疫反应。亚急性表现和快速开始免疫治疗似乎是临床反应良好的预测因素。
