TY - T1的视网膜和视觉皮层损伤和高阶视觉障碍的载体E46Kα-突触核蛋白基因的突变(S5.003) JF -神经学乔-神经学六世- 86 - 16补充SP - S5.003盟尼Gabilondo AU -玛尔塔Galdos盟Alvaro Arjonilla AU -基本上冈萨雷斯盟Begona 首页Arana AU -玛丽安Acera AU -阿尔贝托·卡布瑞拉盟-卡门·阿隆索盟Rocio德尔皮诺盟Olaia卢卡斯AU -纳塔莉亚奥赫达盟Naroa Ibarretxe-Bilbao盟胡安·卡洛斯-戈麦斯Esteban Y1 - 2016/04/05 UR - //www.ez-admanager.com/content/86/16_Supplement/S5.003.abstract N2 -目的:确定视网膜和视觉皮层成像相关变量高阶视觉功能障碍(HOVD)携带者E46Kα-突触核蛋白基因的突变(E46K-SNCA),与路易体痴呆(下文)和帕金森病(PD)。背景:E46K-SNCA磅疾病是一种罕见的遗传模型和早期著名的视觉和认知表现。HOVD有关痴呆的发展在磅谱系障碍,已被证实的损害视网膜和视觉皮层。方法:横向评估性别/年龄匹配的48个参与者:n = 7 E46K-SNCA[4电机帕金森症,1 2自主神经症状和无症状),n = 19 PD, n = 3路易体痴呆n = 19健康对照组(HC)。措施:1)视网膜10月(Spectralis):两国平均黄斑厚度及其层;2)大脑核磁共振(3 t):视觉和额叶皮层乙酰天冬氨酸水平和厚度;3)全球认知和神经心理措施HOVD(视觉注意力,处理速度和内存和visuoperceptive visuoconstructive任务)4)PD的临床特征。不同团体、相关性和线性回归(SPSS诉21)。结果:相比HC和PD症状E46K-SNCA和下文有统计上显著的贫穷导致所有HOVD措施,在黄斑薄神经节细胞内网状层复杂(GCIPL),内部核层(INL)和外核层(筒)和厚光感受器外段层(PROSL)和视觉皮层绝对乙酰天冬氨酸水平较低。分析所有患者在一起,更高的INL萎缩和辊筒,厚PROSL乙酰天冬氨酸含量和较低的视觉皮层显著相关(而不是在HC)在HOVD性能降低的措施。 Conclusions: HOVD is associated to a specific damage of retina and visual cortex in LB spectrum disorders. This injury is stronger in E46K-SNCA and DLB than in PD, which may support the existence of an agressive PD phenotype more purely driven by LB pathology. Study support: MJFF (RRIA 10189) and ISCIII (PI14/00679)Disclosure: Dr. Gabilondo has nothing to disclose. Dr. Galdos has nothing to disclose. Dr. Arjonilla has nothing to disclose. Dr. Gonzalez has nothing to disclose. Dr. Arana has nothing to disclose. Dr. Acera has nothing to disclose. Dr. Cabrera has nothing to disclose. Dr. Alonso has nothing to disclose. Dr. del Pino has nothing to disclose. Dr. Lucas has nothing to disclose. Dr. Ojeda has nothing to disclose. Dr. Ibarretxe-Bilbao has nothing to disclose. Dr. Gomez Esteban has nothing to disclose.Saturday, April 16 2016, 1:00 pm-3:00 pm ER -