Diagram of DNA polymerase

Genetics of frontotemporal dementia

It is not uncommon for patients with FTD to have one relative with another dementia or a neurologic illness. In this situation, the risk of dementia for the rest of the family is only slightly higher than the general population. However, a proportion of patients may have two or more relatives with FTD or a closely related disorder such as MND. This is often caused by a single gene mistake which has been passed on from one generation to the next. These mistakes most commonly occur in the Tau, Progranulin gene or involve an expansion on chromosome 9 (C9orf72). The laboratory at the NeuRA, in collaboration with investigators across Australia, has been studying families with these gene mistakes since the early 90s. We are conducting longitudinal studies of the first degree relatives of people with these known mutations who are at risk of developing the disease to find the earliest brain changes. We are also looking for new genes responsible for families with FTD & MND. We hope these genetic studies will open doors to a better understanding of the biology of FTD, and eventually treatment.