Genetic origins of frontotemporal dementia

Short tandem repeats (STRs) are known to be involved in a range of disorders, including Huntington disease and various ataxias. Using an Australian cohort of individuals diagnosed with frontotemporal dementia (FTD), we aim to discover novel STRs that are present in these individuals but not in healthy controls. Whole genome sequencing data from all individuals will be analysed using several methods for identifying both known and novel STRs. The presence or absence of individual STR expansions will be tested for association with disease status, with the aim of identifying regions that are linked to FTD, and to improve our understanding of their role in the disorder. These data were generated as part of a larger NHMRC Dementia grant awarded to Prof Ian Blair (APP1095215: Developing insight into the molecular origins of familial and sporadic frontotemporal dementia and amyotrophic lateral sclerosis ) in 2015.