Pathophysilogical sudyr for stiff-man syndrome

僵硬人综合征是一种罕见的中枢神经系统疾病。以慢性僵硬、痉挛和针对突触抗原的自身免疫为特征，最常见的是gaba合成酶谷氨酸脱羧酶（GAD）。在一小部分病例中，SMS具有自身免疫性副肿瘤起源。我们在此报告鉴定高滴度的自身抗体直接针对格菲林患者的临床特征的SMS和纵隔癌。Gephyrin是一种选择性富集于抑制性突触突触后膜的胞质蛋白，与GABAA和甘氨酸受体相关。我们的研究结果为针对抑制性突触成分的自身免疫与以慢性僵硬和痉挛为特征的神经系统疾病之间的密切联系提供了新的证据。我们从电生理学的角度研究了僵直阳痿患者。我们展示了僵人综合征和艾萨克斯综合征的比较。在僵硬人综合征中，除了感觉输入引起的头部回缩反射外，还可以通过轻拍面部引起头部回缩反射。我们研究了21例临床诊断为僵硬-man综合征或PERM（进行性脑脊髓炎伴僵硬和肌阵挛）的患者。21例患者血清中仅有1例检测到抗gephyrin自身抗体，5例检测到抗amphiphysin抗体，3例检测到抗gad抗体。

Stiff-man syndrome (SMS) is a rare disease of the central nervous system. (CNS) characterized by chronic rigidity, spasms, and autoimmunity directed against synaptic antigens, most often the GABA-synthesizing enzyme glutamic acid decarboxylase (GAD). In a subset of cases, SMS has an autoimmune paraneoplastic origin. We report here the identification of high-titer autoantibodies directed against gephyrin in a patient with clinical features of SMS and mediastinal cancer. Gephyrin is a cytosolic protein selectively concentrated at the postsynaptic membrane of inhibitory synapses, where it is associated with GABAA and glycine receptors. Our findings provide new evidence for a close link between autoimmunity directed against components of inhibitory synapses and neurological conditions characterized by chronic rigidity and spasms.We studied electrophysiologically patients who was suffered from stiff-man sunyrome. We demonstrated the comparison between stiff man syndrome and Isaacs' syndrome. And the abnormal head retraction reflex was obsereved in stiff-man syndrome, which was elicited by sensory input but also tapping on his face.We studied 21 patients which were clinically diagnosed as stiff-man syndrome or PERM (progressive encephalomyelitis with rigidity and myoclonus). Only one patient had an anti-gephyrin autoantibodies in his serum, five out of 21 were revealed anti-amphiphysin antibodies, anti-GAD antibodies were recognized in three patients.