% 0期刊文章%托比·范Bossche %一个拉奎尔Sanchez-Valle Arne De Roeck % %一个阿尔伯特Llado %卡罗琳·格拉夫%哈坎Thonberg %保罗牧师%莎拉Ortega-Cubero %玛丽亚A牧师%一个罗伯塔Ghidoni路易莎Benussi % % %副总裁朱利亚诺比内蒂一个乔迪Clarimon胡安Fortea % Alberto Lleo % % Alexandre De Mendonca % Madalena马丁斯%一个艾伦盖尔皮% Oriol Grau-Rivera %一个爱丝特雷娜Gomez-Tortosa %贝内黛塔Nacmias %桑德罗Sorbi %一个亚历桑德罗·Padovani芭芭拉Borroni % %伊莎贝尔桑塔纳玛丽亚罗萨里奥阿尔梅达% % Janine Diehl-Schmid % Panagiotis Alexopoulos %玛丽亚Koutroumani %一个玛格达Tsolaki %帕特里克·耐腐蚀合金%一个朱莉·范德Zee %维亚•克里斯泰尔Sleegers % Christine Van Broeckhoven % T临床病理的贡献罕见的有害突变ABCA7早发性老年痴呆症(P6.101) % D J神经病学2017% % P P6.101 X % V % 88% N 16补充目的:描述的临床病理的表现型ABCA7突变携带者在欧洲的早发性阿尔茨海默病(AD)患者和控制个体。首页背景:突变ABCA7已确定为迟发性的广告intermediate-to-high渗透的危险因素。过早终止密码子(PTC)预计将导致失去功能的蛋白质。欧洲大型群体的遗传分析928早发性AD患者和980控制个人,发现了一个重要的浓缩ABCA7 PTC突变患者(3%)相比,控制个人(0.6%)。设计/方法:综述了人口统计学和临床病理的数据可用。结果:患者(n = 28)携带一个ABCA7 PTC突变平均发病年龄为56.8±5.6年,23岁的年龄范围(范围42 - 65)年。主要遗忘表示出现在82.6%(19/23)的患者航空公司只有一个显示一个明确的nonamnestic表型(logopenic进行性失语)。平均年龄的夹杂物控制的运营商(n = 6) ABCA7 PTC突变为62.4±4.9(范围44 - 73)年。报道积极的家族历史痴呆病人的航空公司在61.5%(16/26)和47.7%(274/575)的完整的早发性广告群,但在没有控制航空公司。可能与疾病相关的co-segregation中观察到一个家庭。神经病理学是可用在一个载体,显示高级广告神经病理变化(A3B3C3)和淀粉样血管病,但缺乏α-synuclein免疫反应性。结论:ABCA7 PTC突变为早发性的遗传病因贡献大幅广告,表明遗传筛查的ABCA7基因原因不明的病人可能是相关的。 However, the wide range in onset age and their presence in cognitively healthy control individuals warrants cautious interpretation. Further insight in pathogenicity and age-related penetrance of specific ABCA7 mutations, and possible modifiers thereof, is imperative for implementation of ABCA7 screening into clinical practice and genetic counseling.Study Supported by: The European Early-Onset Dementia (EU EOD) consortium.Disclosure: Dr. Van den Bossche has nothing to disclose. Dr. De Roeck has nothing to disclose. Dr. Sanchez-Valle has nothing to disclose. Dr. Lladó has nothing to disclose. Dr. Graff has nothing to disclose. Dr. Thonberg has nothing to disclose. Dr. Pastor has nothing to disclose. Dr. Ortega-Cubero has nothing to disclose. Dr. Pastor has nothing to disclose. Dr. Benussi has nothing to disclose. Dr. Ghidoni has nothing to disclose. Dr. Binetti has nothing to disclose. Dr. Clarimon has nothing to disclose. Dr. Lleo has nothing to disclose. Dr. Fortea has nothing to disclose. Dr. de Mendonça has nothing to disclose. Dr. Martins has nothing to disclose. Dr. Gelpi has nothing to disclose. Dr. Grau-Rivera has nothing to disclose. Dr. Gomez-Tortosa has nothing to disclose. Dr. Nacmias has nothing to disclose. Dr. Sorbi has nothing to disclose. Dr. Borroni has nothing to disclose. Dr. Padovani has nothing to disclose. Dr. Almeida has nothing to disclose. Dr. Santana has nothing to disclose. Dr. Diehl-Schmid has nothing to disclose. Dr. Alexopoulos has nothing to disclose. Dr. Koutroumani has nothing to disclose. Dr. Tsolaki has nothing to disclose. Dr. Cras has nothing to disclose. Dr. van der Zee has nothing to disclose. Dr. Sleegers has nothing to disclose. Dr. Van Broeckhoven has nothing to disclose. %U