RT期刊文章SR电子T1的病例对照分析甘氨酸受体自身免疫(P5.125)摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP P5.125 VO 88是16补充A1阿方索塞首页巴斯蒂安Lopez-Chiriboga A1香农Hinson A1詹姆斯·鲍尔A1约瑟夫松本A1安哈哈桑A1 Eati基底A1万带兰列侬A1肖恩Pittock A1安德鲁·麦肯年2017 UL //www.ez-admanager.com/content/88/16_Supplement/P5.125.abstract AB目的:报告我们的经验与一个内部开发的细胞测定甘氨酸受体的免疫球蛋白抗体针对alpha -亚基(GlyRα1)患者和对照组之间。背景:GlyRα1antibody是脊髓和脑干兴奋过度的生物标志物(stiff-person频谱(SPS)障碍),包括古典SPS, SPS(例如stiff-limb)有限,进步与刚度和肌阵挛性脑脊髓炎(烫)和hyperekplexia。设计/方法:HEK293细胞转染质粒编码GlyRα1subunit或non-transfected和暴露于血清或脑脊液。病人(n = 20) GlyRα1antibody积极从医生(2013 - 2016)的要求。控制(n = 240)受试者血清(n = 190: 100名健康成年人;40岁健康儿童;50 non-organ特定immunopathies)或患者CSF (n = 50: 30成人正常压力脑积水;20名儿童遗传性神经系统疾病)。结果:GlyRα1抗体积极性被发现在所有的CSF控制和8 190血清控制(4%:5健康,2多克隆hypergammaglobulinemia与系统性红斑狼疮和1)。的20个病人,1有一个功能性神经障碍(GlyRα1抗体阳性血清中)。剩下的19个病人有机SPS谱系障碍。十是男性,症状出现的年龄中位数是51年。 Six patients had GAD65 antibody coexisting (median value: 60.2 nmol/L; range, 0.04–3861). GlyRα1-IgG was detected in serum in 18/19 patients (3/11 were also positive in CSF) and in CSF alone in 1 patient. Phenotypes included PERM (8), SPS (5), stiff-limb (5), and hyperekplexia (1). Neuropsychiatric symptoms (anxiety only [10], anxiety and depression [5], and cognitive dysfunction [3]) coincided with SPS symptoms in 50% of patients. Neoplasms were identified in 4 patients: thymoma (2); Hodgkin lymphoma (1) and ovarian adenocarcinoma (1). Objective neurologic improvement occurred in 15/17 immunotherapy-treated patients (88%), although 2 with PERM died.Conclusions: In the context of SPS spectrum disorders, GlyRα1antibody is a biomarker of an immunotherapy-responsive neurological disease.Study Supported by:Funding: Mayo Clinic Center for Individualized Medicine and Department of Laboratory Medicine and Pathology.Disclosure: Dr. Lopez-Chiriboga has nothing to disclose. Dr. Hinson has received (royalty or license fee or contractual rights) payments from Mayo Foundation. Dr. Bower has nothing to disclose. Dr. Matsumoto has nothing to disclose. Dr. Hassan has nothing to disclose. Dr. Basal has nothing to disclose. Dr. Lennon has received personal compensation from Mayo Foundation-licensed Laboratories. Dr. Pittock's institution has received compensation for Dr. Pittock's activities with Alexion Pharmaceuticals, Medimmune and Chugai Pharma USA. Dr. Pittock and Dr. Pittock's institution stand to receive patent payments that relate to patents for functional AQP4/NMO-IgG assays and NMO-IgG as a cancer marker. Dr. Pittock has received research support from NIH, Alexion Pharmaceuticals and Medimmune related to autoimmune NMO/AQP4 channelopathy. Dr. McKeon has received research support from MedImmune and Euroimmun.