文摘
摘要目的:报告更新的数据从家族的纵向评价额颞叶痴呆(LEFFTDS)协议。
背景:LEFFTDS财团(U01 AG045390)包括调查人员在北美的8个中心评估个体与突变的微管相关蛋白(MAPT),progranulin (入库单72),或染色体9开放阅读框(C9orf72使用标准化的电池的措施)基因。目标人数是300。参与者评估大约在每年的间隔。
设计/方法:我们这里人口报告,临床和遗传特征的参与者评估通过9月30日,2017年。
结果:312名参与者中有65的注册日期基线(参观1)评估具有以下特点:169(54%)的女性,299(96%)高加索人,平均年龄50岁(范围18 - 80)年,意味着教育(范围11日至20日)15年。使用CDR的修改版本,受试者被归类为症状(CDR > 0)或无症状(CDR = 0)。各组遗传特征如下:MAPT与突变−10 - 18的+ 14 + 16日N279K, P301L, S305I, S305N, V337M, G389R或R406W;100名参与者(31 CDR > 0, 69 CDR = 0);入库单- 20的突变A9D C31LfsX35, T52HfsX2, A89V, V90SfsX67, R110X, Q130SfsX125, R198GfsX19, S226WfsX28, A237WfsX4, V279GfsX5, Q300X, W304LfsX58, R418X, I422Efs(小说),R493X和P512Lfs(小说);85名参与者(24 CDR > 0, 61 CDR = 0);和C9orf72- 27的扩张;104名参与者(38 CDR > 0, 66 CDR = 0);和23个有待特征。两个人有一个双突变-C9orf72 +入库单。几乎所有的参与者都有体积MRI表现以及DNA,等离子体、RNA和PBMC样本收集。CSF已经收集到44%。年的随访评估已经完成于117年(57%)访问2和3 25(8%)访问。
结论:这些临床神经心理学和生物标记数据,可供感兴趣的研究者在世界范围内,应该促进规划即将到来的家族额颞叶大叶性变性疾病修饰治疗试验。
研究支持:U01 AG045390和U54 NS092089
披露:Boeve博士接到GE保健和Axovant研究支持。Rosen博士没有披露。博士拳击手没有披露。Brushaber博士没有披露。科波拉博士没有披露。Dheel博士没有披露。迪克森博士已经收到个人赔偿咨询、担任科学顾问委员会说,与默克公司或其他活动,莉莉,生原体,皮拉马尔。法伯尔博士没有披露。博士字段没有披露。方博士没有披露。 Dr. Foroud has nothing to disclose. Dr. Gavrilova has nothing to disclose. Dr. Ghoshal has nothing to disclose. Dr. Goldman has nothing to disclose. Dr Graff-Radford has nothing to disclose. Dr. Graff-Radford has nothing to disclose. Dr. Grossman has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with GE Whitney. Dr. Grossman has received personal compensation in an editorial capacity for Neurology. Dr. Heuer has nothing to disclose. Dr. Hsiao has nothing to disclose. Dr. Hsiung has nothing to disclose. Dr. Huey has nothing to disclose. Dr Irwin has nothing to disclose. Dr. Jones has nothing to disclose. Dr. Kantarci has nothing to disclose. Dr. Karydas has nothing to disclose. Dr. Knopman has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Lundbeck Pharmaceuticals and the DIAN study. Dr. Kornak has nothing to disclose. Dr. Kramer has nothing to disclose. Dr. Kukull has nothing to disclose. Dr. Lapid has nothing to disclose. Dr. Mackenzie has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Petrucelli has nothing to disclose. Dr. Potter has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Rankin has nothing to disclose. Dr. Sutherland has nothing to disclose. Dr. Syrjanen has nothing to disclose. Dr. Taylor has nothing to disclose. Dr. Toga has nothing to disclose. Dr. Weintraub has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier - Parkinsonism & Related Disorders, and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic and I have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Par.
