Aguiar Tiago Silva, Fragoso Andrea, Albuquerque Carolina Rouanet de, Teixeira Patrícia de Fátima, Souza Marcus Vinícius Leitão de, Zajdenverg Lenita, Alves-Leon Soniza Vieira, Rodacki Melanie, Lima Marco Antônio Sales Dantas de
Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Neurologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil.
Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Hospital Universitário Clementino Fraga Filho, Serviço de Nutrologia, Departamento de Clínica Médica, Rio de Janeiro RJ, Brasil.
Arq Neuropsiquiatr. 2017 Mar;75(3):142-146. doi: 10.1590/0004-282X20170011.
This retrospective and descriptive study evaluated the clinical characteristics and outcomes of patients with CA-GAD-ab.
Three patients with cerebellar ataxia, high GAD-ab titers and autoimmune endocrine disease were identified. Patients 1 and 2 had classic stiff person syndrome and insidious-onset cerebellar ataxia, while Patient 3 had pure cerebellar ataxia with subacute onset. Patients received intravenous immunoglobulin therapy with no response in Patients 1 and 3 and partial recovery in Patient 2.
CA-GAD-ab is rare and its clinical presentation may hamper diagnosis. Clinicians should be able to recognize this potentially treatable autoimmune cerebellar ataxia.
本回顾性描述性研究评估了伴有抗谷氨酸脱羧酶自身抗体（CA-GAD-ab）患者的临床特征及预后。
确诊3例患有小脑性共济失调、高GAD-ab滴度及自身免疫性内分泌疾病的患者。患者1和患者2患有典型的僵人综合征及隐匿起病的小脑性共济失调，而患者3患有亚急性起病的单纯小脑性共济失调。患者接受静脉注射免疫球蛋白治疗，患者1和患者3无反应，患者2部分恢复。
CA-GAD-ab罕见，其临床表现可能妨碍诊断。临床医生应能够识别这种潜在可治疗的自身免疫性小脑性共济失调。
