We have identified a large pedigree with clinical symptoms of presenile dementia with motor neuron disease. We used the pedigree to identify the disease gene on chromosome 9, referred to as the PD9 gene. The aims of this project are to undertake the biological characterisation of this novel neurodegeneration gene, with emphasis on using a panel of commercially available and clinically relevant agonists and antagonists to determine its role in key pathways involved in Alzheimer's disease and other neurodegenerative disorders. We will also utilise mutation carriers within the family to determine the earliest biochemical and structural changes in their brains using imaging techniques.
