Project 452829

Frontotemporal dementia (FTD) is a devastating progressive neurodegenerative disease that is highly heritable and currently incurable. Approximately 40% of patients have a positive family history, and 10-15% a recognized autosomal dominant pattern of FTD. Seven years ago, the first international cohorts of patients with genetic FTD and their adult biological family members were launched. These longitudinal studies now follow ~ 2000 individuals and have provided fundamental knowledge of the clinical onset and course of genetic FTD (Rohrer et al. Lancet Neuro 2015; Moore et al. Lancet Neuro 2020). Interestingly, several of these recent studies have observed group differences between in brain structure, even at the very first assessment, which may be several decades before symptoms begin. Recent discoveries have identified structural brain in youth and even embryos carrying mutations for other hereditary neurodegenerative disorders. Together these findings raise an emergent question for the field of FTD: is genetic FTD a neurodevelopmental disorder? In this study we will establish a new novel cohort of youths ages 9-16 from families known to carry genetic mutations causing FTD, to determine whether changes in brain structure, function, cognition or behaviour may be present. Answering this question has important implications for the selection and development of treatments to prevent the neurodegeneration of FTD.