Seneviratne Sinali O, Buzzard Katherine A, Cruse Belinda, Monif Mastura
Curtin University, Kent Street, Bentley, Perth, Western Australia, Australia.
Department of Neurology, Royal Melbourne Hospital, Parkville, Melbourne, Victoria, Australia.
Case Reports Immunol. 2020 Feb 8;2020:8454532. doi: 10.1155/2020/8454532. eCollection 2020.
Anti-GAD antibody syndrome is a result of the production of antibodies against glutamic acid decarboxylase (GAD), the main enzyme responsible for the production of gamma-aminobutyric acid (GABA). Several neurological manifestations including cerebellar ataxia and stiff person syndrome have been reported in association with anti-GAD antibodies. In this paper, we present a case of a young woman with anti-GAD antibodies who initially presented with cerebellar ataxia followed by stiff person syndrome three and a half years later. Having both cerebellar ataxia and stiff person syndrome is a rare occurrence in anti-GAD antibody syndrome. We emphasise the importance of long-term follow-up of patients with anti-GAD antibody syndrome, as delayed neurological manifestations can occur.
抗谷氨酸脱羧酶(GAD)抗体综合征是机体产生针对谷氨酸脱羧酶(GAD)的抗体所致,谷氨酸脱羧酶是负责生成γ-氨基丁酸(GABA)的主要酶。已有多项神经学表现被报道与抗GAD抗体相关,包括小脑共济失调和僵人综合征。在本文中,我们报告了一例年轻女性抗GAD抗体综合征病例,该患者最初表现为小脑共济失调,三年半后出现僵人综合征。抗GAD抗体综合征同时出现小脑共济失调和僵人综合征的情况较为罕见。我们强调对抗GAD抗体综合征患者进行长期随访的重要性,因为可能会出现延迟性神经学表现。