作者@article {Van den BosscheP6.101 ={托比·范Bossche Arne De Roeck和拉奎尔Sanchez-Valle艾伯特Llad {\ ' o}和卡罗琳·格拉夫和H {\ r}菅直人Thonberg和保罗牧师和莎拉Ortega-Cubero玛丽亚a .牧师和路易莎Benussi罗伯塔Ghidoni和乔迪Clarimon副总裁朱利亚诺比内蒂和阿尔贝托Lleo胡安Fortea Mendon {\ c c}和Alexandre De Madalena马丁斯和艾伦盖尔皮Oriol Grau-Rivera和爱丝特雷娜Gomez-Tortosa和贝内黛塔Nacmias桑德罗Sorbi芭芭拉Borroni和亚历山德罗Padovani玛丽亚罗萨里奥阿尔梅达和伊莎贝尔桑塔纳和简宁Diehl-Schmid Panagiotis Alexopoulos和玛丽亚Koutroumani玛格达Tsolaki帕特里克·耐腐蚀合金和朱莉·范德Zee维亚•克里斯泰尔Sleegers和克里斯汀•范Broeckhoven} title ={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)},体积={88}={16}补充数量,elocation-id = {P6.101} ={2017},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:描述ABCA7临床病理表型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突变的平均发病年龄56.8 {\ textpm} 5.6年,23岁的年龄范围(范围42 {\ textendash} 65)年。主要遗忘表示出现在82.6 \ %(19/23)病人的航空公司,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 {\ textpm} 4.9(范围44 {\ textendash} 73)年。积极的家族历史痴呆在61.5 \ %(16/26)病人的运营商和47.7 \ %(274/575)在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. Llad{\'o} 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 Mendon{\c c}a 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.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/88/16_Supplement/P6.101}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }