% 0期刊文章% Olaia Lucas-Jimenez %一个玛丽安Acera Rocio德尔皮诺% %一个尼Gabilondo % Beatriz Tijero胡安卡洛斯Gomez-Esteban % %一个玛丽亚Diez-Cirarda %哈维尔·佩纳% Naroa Ibarretxe-Bilbao %纳塔莉亚奥赫达% T神经心理学在携带者E46Kα-突触核蛋白基因的突变(P5.200) % D J神经病学2016% % P P5.200 X % V % 86% N 16补充目的:比较神经心理学在运营商的E46Kα-突触核蛋白基因的突变(E46K-SNCA)与健康对照组(HC)、特发性帕金森病(iPD)和路易体痴呆与下文)。首页背景:E46K-SNCA是一种罕见的、highly-penetrant和临床遗传模型的纯路易身体疾病,早期和严重的认知障碍。方法:我们进行横向比较63名参与者包括n = 7 E46K-SNCA[4症状(电动机震颤麻痹;意味着疾病持续时间(dd): 9.1年)和3无症状),n = 28 iPD (dd: 5.3年),n = 2下文(dd: 6.6年)和n = 26 HC,与性别、年龄和教育。我们评估发病前的智力、注意力、加工速度、语言流畅,语言和视觉学习和记忆,心理理论(汤姆),执行能力,高阶视觉(视觉空间的,visuoperceptive visuoconstructive)技能。Mann-Whitney U测试是用来评估团体之间的区别。结果:与HC相比,症状E46K-SNCA显示显著较低的性能在语言流畅和语言的记忆中,汤姆和专门处理速度和高阶视觉技能。虽然我们没有观察到显著差异HC和无症状E46K-SNCA之间性能降低的趋势在视觉记忆和语义和语音语言流畅在后者被发现。与iPD相比,症状E46K-SNCA证明在处理速度显著降低性能,语言流畅,学习和记忆,汤姆,和执行功能。在这里,高阶视觉技能特别是E46K-SNCA症状影响更大。 Cognitive performance was also poorer in DLB than in iPD for most cognitive domains. Interestingly, DLB cognitive profile was similar to that of symptomatic E46K-SNCA carriers, especially for verbal memory and higher order visual skills. Conclusions: Neuropsychological deterioration in E46K-SNCA is more severe and affects more cognitive domains than in iPD. Moreover, the similarities between E46K-SNCA and DLB may support the existence of a cognitive phenotype specific for alpha-synucleinopathies driven by higher order visuospatial abnormalities.Disclosure: Dr. Lucas-Jiménez has nothing to disclose. Dr. Del Pino has nothing to disclose. Dr. Acera has nothing to disclose. Dr. Gabilondo has nothing to disclose. Dr. Gómez-Esteban has nothing to disclose. Dr. Tijero has nothing to disclose. Dr. Díez-Cirarda has nothing to disclose. Dr. Peña has nothing to disclose. Dr. Ibarretxe-Bilbao has nothing to disclose. Dr. Ojeda has nothing to disclose.Wednesday, April 20 2016, 8:30 am-7:00 pm %U