Dr John Kwok and Professor Peter Schofield have been studying familial dementias and, together with PhD student Agnes Luty, have characterised a large South Australian family that has frontotemporal dementia and motor neurone disease. Genetic linkage studies have led to the identification of linkage to chromosome 9p, a well-established locus for this disease. Neuropathological investigation of donated brain tissue has identified the role of the recently described protein TDP-43 as a key marker of the brain pathology, confirming the clinical diagnosis of frontotemporal dementia and motor neurone disease. Positional cloning studies are well advanced for the identification and characterisation of the gene responsible for this inherited disorder.
Other studies examining inherited forms of frontotemporal dementia are continuing and this team contributed samples and data to a major international collaborative study examining the phenotypic variability associated with a common mutation in the frontotemporal dementia gene progranulin.
