PT -期刊文章盟Eugenia马丁斯盟Nuria Gresa-Arribas AU - Mar Petit-Pedrol AU -海伦娜Arino盟-阿尔伯特Saiz AU -弗朗西斯克格劳盟约瑟Dalmau TI -自身免疫抑制性突触蛋白在Stiff-Person频谱的症状(S52.003) DP - 2014 Apr 08年TA -神经病学PG - S52.003 VI - 82 IP - 10补充4099 - //www.ez-admanager.com/content/82/10_Supplement/S52.003.short 4100 - http://n.neu首页rology.org/content/82/10_Supplement/S52.003.full所以Neurology2014 Apr 08年;82 AB -目标来确定自身抗体的类型和频率在一个大型系列stiff-person频谱症状的患者(SPSS)。背景SPSS associates肌肉僵硬和痉挛。抑制性突触蛋白的自身抗体,包括谷氨酸脱羧酶(GAD65) amphiphysin,甘氨酸受体(GlyR)和gephyrin涉及发展的障碍。方法163 SPSS患者被纳入研究。87份血清样本,11脑脊液样本和65配对血清和脑脊液样本检查使用免疫印迹(amphiphysin),免疫组织化学(GAD65)和细胞化验(GlyR gephyrin和GABAa-receptor)。血清和/或脑脊液神经退行性疾病患者和150的免疫介导性疾病(57脑炎相关的细胞表面抗体,83 GAD65 SPSS以外的症状,和10 anti-Hu-associated综合症)作为控制。结果82/163(50.3%)例患者有抑制性突触蛋白的抗体。当每个蛋白质被认为是,53例(32.5%)有GAD65抗体,22 (13.5%)GlyR 4 (2.4%) GABAa-receptor和3 (1.8%)amphiphysin。三个患者抗体,GlyR GAD65, 2对GAD65和GABAa-receptor。 Antibodies to gephyrin were examined in 50 randomly selected patients and all were negative. Among the control groups, GlyR-antibodies were identified in 7/83 patients with GAD65-antibodies (4 cerebellar ataxia and 3 epilepsy), and 4/52 patients with cell-surface-antibodies (all 4 NMDAR). Preliminary clinical comparison between GAD65+ (30 patients) and GlyR+ (22 patients) showed that male gender (p<0.0001), brainstem signs (p=0.0013), sensory symptoms (p=0.0037) and pyramidal signs (p=0.0268, Fisher’s test) were more frequent in the GlyR group. CONCLUSIONS In our experience there is an ample repertoire of individual or coexistent antibodies to inhibitory synaptic proteins in patients with SPSS, including (by order of frequency) GAD65> GlyR> GABAa-receptor> amphyphisin. The GABAa-receptor is a novel antigen not previously reported in this disorder. Preliminary analysis suggests differences in clinical-immunological association. Study Supported by:Instituto CarlosIII CM12/00055, FIS PI11/01780 and PI12/00611, National Institutes of Health RO1NS077851 and Fundació la Marató TV3 101530Disclosure: Dr. Martínez-Hernandez has nothing to disclose. Dr. Gresa-Arribas has nothing to disclose. Dr. Petit-Pedrol has nothing to disclose. Dr. Ariño has nothing to disclose. Dr. Saiz has received personal compensation for activities with Bayer Schering, Merck Serono, Biogen Idec, Sanofi-Aventis Pharmaceuticals Inc., Teva Neuroscience, and Novartis. Dr. Graus 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.Thursday, May 1 2014, 1:00 pm-2:45 pm