Ryan Brigid, O'Mara Baker Ashleigh, Ilse Christina, Brickell Kiri L, Kersten Hannah M, Williams Joanna M, Addis Donna Rose, Tippett Lynette J, Curtis Maurice A
Department of Anatomy and Medical Imaging, University of Auckland, Auckland, New Zealand.
Centre for Brain Research, University of Auckland, Auckland, New Zealand.
J R Soc N Z. 2022 Jul 28;53(4):511-531. doi: 10.1080/03036758.2022.2101483. eCollection 2023.
The New Zealand Genetic Frontotemporal Dementia Study (FTDGeNZ) is an emerging longitudinal study of a large New Zealand pedigree with genetic frontotemporal dementia (FTD). Natural history studies of genetic FTD cohorts provide a unique opportunity to identify biomarkers of pre-symptomatic dementia, as carriers can be identified and studied decades before expected symptom onset. FTDGeNZ was established in 2016 with the aim of identifying the earliest pre-symptomatic biomarkers of FTD, in collaboration with international multi-centre cohorts. We enrolled 25 participants from a single family between April 2016 and August 2018. Participants were genotyped to determine whether they were pre-symptomatic carriers of the mutation (MAPT IVS 10 + 16 C > T), or non-carrier controls. Participants have undergone clinical assessments including neuropsychological and mood assessment; olfactory testing; assessment of social cognition; and blood collection for analyses of microRNA and protein fluid biomarkers annually. We have also performed structural and functional MRI of the brain and assessment of autobiographical memory biennially, and retinal imaging at baseline. Here, we describe the full study protocol and the baseline demographic and clinical characteristics of the FTDGeNZ cohort, and we highlight the latest findings in the field.
新西兰遗传性额颞叶痴呆研究（FTDGeNZ）是一项针对新西兰一个患有遗传性额颞叶痴呆（FTD）的大型家系展开的新兴纵向研究。遗传性FTD队列的自然史研究为识别症状前痴呆的生物标志物提供了独特机会，因为在预期症状出现前数十年就可以识别并研究携带者。FTDGeNZ于2016年成立，旨在与国际多中心队列合作，识别FTD最早的症状前生物标志物。2016年4月至2018年8月期间，我们从一个家族中招募了25名参与者。对参与者进行基因分型，以确定他们是否为该突变（MAPT IVS 10 +16 C>T）的症状前携带者，或非携带者对照。参与者每年都接受临床评估，包括神经心理学和情绪评估、嗅觉测试、社会认知评估，并采集血液用于分析微小RNA和蛋白质液体生物标志物。我们还每两年进行一次大脑的结构和功能磁共振成像以及自传体记忆评估，并在基线时进行视网膜成像。在此，我们描述FTDGeNZ队列的完整研究方案以及基线人口统计学和临床特征，并突出该领域的最新发现。
