文摘
摘要目的:报告进展家族额颞叶痴呆的纵向评价对象(LEFFTDS)财团(U01 AG045390)协议。
背景:这个协议包括调查人员在北美的8个中心评估对象在家族与突变在微管相关蛋白(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。
设计/方法:我们在这里报告通过2016年8月学科评估的特点。
结果:中有209例61年家族注册迄今为止以下特色:113(54%)的女性,201年(96%)白人(1和5的亚洲,1非裔美国人,美国1印度和中东的美国),平均年龄50岁(范围18 - 80)年,意味着教育15(范围12-20)年。主题分类如下:突变携带者症状(+ mCDR > 0),无症状的突变携带者(+ mCDR = 0)和无症状non-mutation运营商(-mCDR = 0)。各组遗传特征如下:MAPT- 17家族的突变:−10 + 16,N279K, P301L, S305I, S305N, V337M, G389R R406W;73例(23 + mCDR > 0, 10 + mCDR = 0, 5 -mCDR = 0和35变量临床状态但到目前突变状态);入库单- 19的下列突变之一:A9D, C31LfsX35, T52HfsX2, R110X, R198GfsX19, S226WfsX28, A237WfsX4, V279GfsX5, Q300X, W304LfsX58, R418X, I422Efs(小说),R493X和P512Lfs(小说);66例(23 + mCDR > 0, 14 + mCDR = 0, 17 -mCDR = 0和12个变量临床状态但到目前突变状态);和C9orf72- 25的扩张;69例(22 + mCDR > 0, 14 + mCDR = 0, 10 -mCDR = 0和23个变量临床状态但到目前突变状态)。几乎所有的学科都有体积MRI表现以及DNA,等离子体、RNA和PBMC样本收集。CSF收集38%的主题。
结论:这些临床神经心理学和生物指标数据,将提供给感兴趣的研究者在世界范围内,应该促进计划在家族FTD即将到来的疾病修饰治疗试验。
研究支持:
NIA和研究所格兰特U01 AG045390
披露:Boeve已收到博士研究通用电气医疗集团的支持,论坛制药、诊断和Axovant C2N。Rosen博士没有披露。拳击手博士已经收到个人活动与Abbvie补偿,Asceneuron,詹森,默克公司咨询。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补偿活动与默克公司顾问。迪克森博士已经收到了个人在一篇社论中补偿能力的实验:临床。法伯尔博士没有披露。博士字段没有披露。Foroud博士没有披露。 Dr. Gavrilova has nothing to disclose. Dr. Ghoshal has nothing to disclose. Dr. Goldman has nothing to disclose. Dr. Graff-Radford has received personal compensation for activities with Cytox. Dr. Grossman has received personal compensation for activities with Avid. Dr. Grossman has received personal compensation in an editorial capacity for Neurology. Dr. Grossman has received research support from BMS. Dr. Heuer has nothing to disclose. Dr. Hsiao has nothing to disclose. Dr. Hsiung has received research support from Baxter, Bristol-Myers Squibb, and TauRx, and has previously participated in clinical trials by Elan, GlaxoSmithKline, Dr. Huey has nothing to disclose. Dr. Irwin has nothing to disclose. Dr. Katarci has received royalty payments from Takeda. Dr. Karydas has nothing to disclose. Dr. Knopman has received personal compensation for activities with Lundbeck Pharmaceuticals.Dr. Knopman has received research support from Lilly Pharmaceuticals, Biogen and TauRX. Dr. Kornak has nothing to disclose. Dr. Kukull has nothing to disclose. Dr. Mackenzie has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Phelps has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Rankin has research support from Quest Diagnostics. Dr. Shaw has received personal compensation for activities with Janssen and Eli Lilly as a consultant. Dr. Sutherland has nothing to disclose. Dr. Syrjanen has nothing to disclose. Dr. Toga has nothing to disclose. Dr. Trojanowksi has received personal compensation for activities with Johnson & Johnson as a speaker and collaborator. Dr. Vetor has nothing to disclose. Dr. Weintraub has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Parkinsonism & Related Disorders and the European Journal of Neurology. Dr. Wszolek has received royalty payments for the discovery of LRRK2 gene mutations.
