% 0期刊文章% Carles Gaig %一个艾伦盖尔皮莉迪亚•萨瓦特% % Luis Bataller % 1月Lewerenz %一个起诉Torres-Vega %一个洛杉矶孔特雷拉斯%布鲁诺Giometto % Yaroslau Compta %一个伊莎贝尔Vilaseca克里斯蒂娜Embid % %一个亚历克斯Iranzo %琼Santamaria %约瑟Dalmau %弗朗西斯克格劳% T细胞粘附分子抗体IgLON5小说Tauopathy认同非快速眼动(REM睡眠机能紊乱和睡眠呼吸障碍(S9.005) % D J神经病学2014% % P S9.005 % V 82% N 10补充% X目标/背景:我们旨在描述的临床和神经病理特征与著名的睡眠障碍症状与新颖的细胞表面蛋白抗体和描述自身抗原。首页设计/方法:八个患者抗体显示类似的反应性神经纤维网的老鼠大脑被包括在研究。患者的临床评估历史和video-polysomnography (PSG)。在两个病人尸检脑检查执行。免疫沉淀反应和质谱被用来识别抗原。HEK293细胞的试验优化开发一个明确的诊断测试。作为控制,我们包括251例与神经退行性疾病、睡眠障碍、自身免疫性脑炎、多发性硬化症。结果:所有患者开发了一个独特的睡眠障碍的特点是异常运动行为和阻塞性睡眠呼吸暂停和喘鸣。Video-PSG显示障碍与未分化或结构不合理N2阶段非快速眼动睡眠与简单相关和finalistic行为和快速眼动期睡眠行为障碍。非快速眼动睡眠正常化典型发生在夜晚的最后一部分。 Four patients also developed severe gait instability. Other associated features included chorea, bulbar symptoms, and central hypoventilation. Pathological examination revealed a novel neuronal tauopathy without inflammation mainly involving the tegmentum of the brainstem and hypothalamus. All patients had serum and CSF antibodies (mainly IgG4) against a novel autoantigen that was identified as IgLON5, a member of a family of cell adhesion molecules involved in the control of synaptogenesis. The syndrome slowly progressed in years except in two patients who died in less than six months. Immunotherapy was not effective and six patients had sudden death. IgLON5 antibodies were detected in one of 251 controls. CONCLUSIONS: IgLON5 antibodies identify a novel tauopathy that associates with a sleep disorder characterized by NREM and REM parasomnia and sleep disordered breathing. Our findings emphasize a link between autoimmunity and neurodegeneration. Study Supported by: grants FIS (11/01780; PI12/00611), Fundació la Marató TV3, and CIBERNED, Spain; and the NIH RO1NS077851, USA.Disclosure: Dr. Gaig has nothing to disclose. Dr. Sabater has nothing to disclose. Dr. Gelpi has nothing to disclose. Dr. Bataller has nothing to disclose. Dr. Lewerenz has nothing to disclose. Dr. Torres-Vega has nothing to disclose. Dr. Contreras has nothing to disclose. Dr. Giometto has nothing to disclose. Dr. Compta has nothing to disclose. Dr. Embid has nothing to disclose. Dr. Vilaseca has nothing to disclose. Dr. Iranzo has nothing to disclose. Dr. Santamaria has nothing to disclose. Dr. Dalmau has received personal compensation in an editorial capacity for Up To Date. Dr. Dalmau has received royalty payments from Athena Diagnostics. Dr. Dalmau has received research support from Euroimmun. Dr. Graus has nothing to disclose.Tuesday, April 29 2014, 1:00 pm-2:45 pm %U