MAPT mutations were the first discovered genetic cause of frontotemporal dementia (FTD) in 1998. Since that time, over 60 MAPT mutations have been identified, usually causing behavioural variant FTD (bvFTD) and/or parkinsonism clinically. We describe two novel MAPT mutations, D252V and G389_I392del, each presenting in a patient with bvFTD and associated language and cognitive deficits. Neuroimaging revealed asymmetrical left greater than right temporal lobe atrophy in the first case, and bifrontal atrophy in the second case. Disease duration was 8 years and 5 years respectively. Post mortem examination in both patients revealed a 3-repeat predominant tauopathy, similar in appearance to Pick's disease. These two mutations add to the literature on genetic FTD, both presenting with similar clinical and imaging features to previously described cases, and pathologically showing a primary tauopathy similar to a number of other MAPT mutations
