TY -的T1 -ρGTPase激活蛋白26 (ARHGAP26)免疫球蛋白自身免疫:频率和临床神经学协会(P3.346) JF -乔-神经学六世- 86 - 16补充SP - P3.346 AU -诺拉Alfugham AU -万带兰列侬AU -拉斯科首页莫罗夫斯基盟Probst基督教非盟-肖恩Pittock Y1 - 2016/04/05 UR - //www.ez-admanager.com/content/86/16_Supplement/P3.346.abstract N2 -目的:报告的频率、临床特点,免疫治疗反应和肿瘤协会的一个刚被公认的神经元自身抗体,ARHGAP26-IgG。背景:到目前为止,已报告4 ARHGAP26-IgG患者:3有小脑性共济失调与卵巢癌(1)和第四个病人边缘脑炎共存的几种Kv1-potassium channel-complex抗体。设计/方法:在服务的过程中评估病人的血清对多种自身抗体,从2007年到2015年,免疫球蛋白g在100年被分类(按鼠标组织的间接免疫荧光法测定)产生小脑染色的“美杜莎的头型”模式。这些血清评估ARHGAP26-IgG使用转染细胞的存在分析(Euroimmun,德国)。结果:发现ARHGAP26-IgG 13个病人的血清:62 (percnt)是男性;平均年龄在神经系统症状出现在61年(范围19 - 76)。三个临床亚组患者中观察到12可用临床信息:1]孤立小脑性共济失调(5),2)孤立的周围神经病变(3)和3)小脑性共济失调”+“其他神经症状(4);周围神经病变2例,pseudobulbar影响和认知下降1。MRI大脑、小脑性共济失调患者可用3显示小脑萎缩3;另外1脑干萎缩。 Follow-up information concerning neoplastic associations was limited: one patient had squamous-cell carcinoma in a cervical lymph node (primary unknown); two had increased FDG uptake on PET-CT body imaging (mediastinal lymph nodes [1]; lingual tonsils/inguinal lymph nodes [1]). None of 8 patients who received immunotherapy reported improvement. The frequency of ARHGAP26-IgG detection in the 12-month-period 2014-2015 was 0.004[percnt] (2 among 52,000 sera evaluated), higher than the 0.002[percnt] detection frequency for PCA-Tr (Delta/notch-like epidermal growth factor-related receptor), but lower than the 0.015[percnt] frequency of another Medusa head-type autoantibody (ITPR1-IgG). Conclusion: Common manifestations of ARHGAP26 autoimmunity include subacute ataxia/ cerebellar degeneration and peripheral neuropathy. Cases in this series responded poorly to immunotherapy.Disclosure: Dr. Alfugham has nothing to disclose. Dr. Lennon has received research support from the National Institutes of Health. Dr. Komorowski has received personal compensation for activities with EuroImmun AG as an employee. Dr. Probst has nothing to disclose. Dr. Pittock has received (royalty or license fee or contractual rights) payments from Peripherin-Specific Autoantibodies as a Marker for Neurological and Endocrinological Disease.Monday, April 18 2016, 8:30 am-7:00 pm ER -