Dementia Research Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
Memory and Aging Center, Department of Neurology, University of California San Francisco, San Francisco, CA, USA.
Adv Exp Med Biol. 2021;1281:113-121. doi: 10.1007/978-3-030-51140-1_8.
Around one-third of frontotemporal dementia (FTD) is autosomal dominant with the major genetic causes being mutations in MAPT, GRN and C9orf72. Studying familial forms of FTD can provide a window into the earliest stages of the illness, many years before symptoms start. Large cohort studies have been set up in recent years to better understand this presymptomatic phase, including the Genetic FTD Initiative (GENFI) and the Advancing Research and Treatment for Frontotemporal Lobar Degeneration and Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (ARTFL/LEFFTDS) studies. Whilst these studies have focused on the investigation of a variety of aspects of genetic FTD, from understanding the molecular pathogenesis to developing biomarkers, they also have a common goal: finding a way to prevent FTD. Researchers from these cohort studies have therefore come together to form the FTD Prevention Initiative (FPI), which has the overarching aim of promoting clinical trials of new therapies to prevent FTD through creating an international database of participants eligible for trials and uniform standards for conducting such trials. This chapter outlines the work of the FPI so far and its future goals over the next few years.
大约三分之一的额颞叶痴呆（FTD）是常染色体显性遗传，主要的遗传原因是 MAPT、GRN 和 C9orf72 的突变。研究家族性 FTD 可以为疾病的早期阶段提供一个窗口，在症状出现之前的许多年。近年来，已经建立了大型队列研究来更好地了解这一无症状阶段，包括遗传 FTD 倡议（GENFI）和额颞叶变性的研究和治疗进展以及家族性额颞叶痴呆受试者的纵向评估（ARTFL/LEFFTDS）研究。虽然这些研究集中于从了解分子发病机制到开发生物标志物等方面对遗传 FTD 的各种方面进行调查，但它们也有一个共同的目标：寻找预防 FTD 的方法。来自这些队列研究的研究人员因此联合起来成立了 FTD 预防倡议（FPI），其总体目标是通过创建一个有资格参加试验的参与者的国际数据库和进行此类试验的统一标准，促进预防 FTD 的新疗法的临床试验。本章概述了 FPI 迄今为止的工作及其未来几年的目标。
