@article {HonoratS20.004作者= {Josephe Archie Honorat Lars科莫罗夫斯基和埃里克圣路易斯Kai Fechner和香农Hinson Sabine莱德尔和Neeraj Kumar说万带兰列侬和肖恩Pittock和安德鲁·麦肯},title = {IgLON5自身免疫:血清学调查结果,神经紊乱\ &结果在16个病人(S20.004)},体积={88}={16}补充数量,elocation-id = {S20.004} ={2017},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:描述神经疾病和IgLON5自身免疫的结果。首页背景:中枢神经系统障碍突出睡眠异常的自身免疫和IgG4优势是报道的选择目标免疫球蛋白- IgLON5 (Ig)同细胞粘附分子。设计/方法:存档血清和脑脊液标本350例已知港非保密模仿amphiphysin-IgG被重新评估间接免疫荧光抗体试验(IFA)采用复合老鼠的组织和一个IgLON5-transfected细胞试验(CBA)。所有可用的标本(血清,21岁;从22位患者CSF, 5)(8 \ %)有相同的IFA大脑的免疫球蛋白g染色模式(突触)和肾肾小球和健壮的CBA积极性。结果:临床信息可用于16/22患者;11是女性。疾病,发病年龄中值为62岁(范围,75年46 {\ textendash})。所有患者的发病和进展的神经系统症状和脑干疾病的优势:睡眠呼吸暂停(11),REM睡眠行为障碍(3),步态不稳(9),吞咽困难(9)、呼吸功能障碍(6),眼球运动异常(5),共济失调(5),复视(3),craniocervical肌张力障碍(3)和构音障碍(2)。结果与中枢神经系统兴奋过度兼容包括:肌阵挛(6),抽筋(3)和(2)过激。皮质障碍包括:认知功能障碍(4),(4)精神病症状,癫痫发作(1),神经异常出现在8日影响膀胱功能(6),胃肠道蠕动(3),温度调节(3)和直立的宽容(1)没有肾病。1病人共存的自身免疫性疾病。大脑核磁共振发现非特异性和CSF在所有测试非炎症。一个病人得了癌症(乳腺腺癌)。 Six of 7 immunotherapy-treated patients improved; 4/6 were stable at last follow-up, but 2/6 subsequently progressed despite active treatment. Three untreated patients died within a median of 12 months of initial evaluation (range, 7{\textendash}24). Each IgLON5-IgG subtype (1{\textendash}4) was readily detectable in >= 80\% of specimens by CBA.Conclusions: IgLON5-IgG is diagnostic of a potentially treatable disorder which otherwise lacks autoimmune clues where diverse brainstem, sleep and autonomic disorders are prominent.Study Supported by: Mayo Clinic Center for Individualized Medicine and Department of Laboratory Medicine and Pathology.Disclosure: Dr. Honorat has nothing to disclose. Dr. Komorowski has nothing to disclose. Dr. St. Louis has received personal compensation for activities with Axovant, Inc. and Inspire, Inc. Dr. Fechner has received personal compensation for activities with Euroimmun AG as an employee. Dr. Hinson has received (royalty or license fee or contractual rights) payments from Mayo Foundation. Dr. Lederer has received personal compensation for activities with EUROIMMUN AG, Germany as an employee. Dr. Kumar has nothing to disclose. Dr. Lennon has received personal compensation from Mayo Foundation-licensed Laboratories. Dr. Pittock{\textquoteright}s institution has received compensation for Dr. Pittock{\textquoteright}s activities with Alexion Pharmaceuticals, Medimmune and Chugai Pharma USA. Dr. Pittock and Dr. Pittock{\textquoteright}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.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/88/16_Supplement/S20.004}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }