自身免疫抑制性突触蛋白在Stiff-Person频谱的症状(S52.003)

文摘

目的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。gephyrin抗体检测在50个随机选择的病人,都是负面的。 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 101530

披露:马丁斯博士没有披露。Gresa-Arribas博士没有披露。Petit-Pedrol博士没有披露。Arino博士没有披露。Saiz博士已经收到个人赔偿的活动与拜耳先灵葆雅,默克公司Serono, Idec,赛诺菲-安万特制药公司,Teva神经科学和诺华。格劳博士没有披露。Dalmau博士已经收到个人薪酬在一篇社论中更新的能力。从雅典娜诊断Dalmau博士获得了特许使用金。Dalmau博士接到Euroimmun研究支持。