Department of Neurology, University of Michigan Health System, Ann Arbor, MI 48109-5036, USA.
Semin Neurol. 2012 Nov;32(5):544-9. doi: 10.1055/s-0033-1334477. Epub 2013 May 15.
Antibodies directed against glutamic acid decarboxylase (GAD) are present in many patients with stiff person syndrome and increasingly found in patients with other symptoms indicative of central nervous system (CNS) dysfunction, such as ataxia. The classic clinical features of stiff person syndrome include muscular stiffness with superimposed painful muscular spasms. Gait is often impaired. Other CNS disorders associated with GAD antibodies include progressive encephalomyelitis with rigidity and myoclonus (PERM), limbic encephalitis, and even epilepsy. Glutamic acid decarboxylase is the rate-limiting enzyme in the production of gamma-aminobutyric acid (GABA), the primary inhibitory neurotransmitter. Presumably, antibodies directed against GAD impair GABA production, but the precise pathogenic mechanism of GAD-antibody-related neurologic disorders is uncertain. Many patients respond to treatment with immunomodulating therapy. Symptomatic treatment with agents that enhance GABA activity, such as benzodiazepines and baclofen, is also helpful for many patients.
针对谷氨酸脱羧酶 (GAD) 的抗体存在于许多僵人综合征患者中，并且越来越多地在其他具有中枢神经系统 (CNS) 功能障碍症状的患者中发现，例如共济失调。僵人综合征的典型临床特征包括肌肉僵硬伴有疼痛性肌肉痉挛。步态常常受损。与 GAD 抗体相关的其他 CNS 疾病包括伴有僵硬和肌阵挛的进行性脑脊髓炎 (PERM)、边缘性脑炎，甚至癫痫。谷氨酸脱羧酶是γ-氨基丁酸 (GABA) 产生的限速酶，GABA 是主要的抑制性神经递质。据推测，针对 GAD 的抗体可损害 GABA 的产生，但 GAD 抗体相关神经疾病的确切发病机制尚不确定。许多患者对免疫调节治疗有反应。许多患者对增强 GABA 活性的药物（如苯二氮䓬类和巴氯芬）进行对症治疗也有帮助。
