Background
Parkinson’s disease (PD) is caused by the progressive degeneration of dopaminergic neurons in the brain that leads to the characteristic disabling motor manifestations of the disease. PD is the second most common neurodegenerative disease, affecting approximately 100 000 Australians. Most cases of PD are sporadic; however, around 10-15% of affected individuals are known to have a family history of the disease. Recently, the importance of genetic factors in causing familial and some seemingly sporadic cases of PD has been realised, with identification of a growing number of genes harbouring causative mutations (gene defects). Knowledge of the genes involved in the familial form of PD is rapidly increasing. To date, mutations in seven genes are known to be involved in the development of the disease, and this number is likely to increase. It is anticipated that genetic testing for these known mutations in familial PD patients may in the future assist with diagnosis, prognosis, medical decision making, and the ability of the patient to plan for the future. However, due to the high cost and technical difficulties of mutation detection methods, to date no single screening procedure has been developed to identify all known variants in PD genes in a single patient blood sample.

Project Aims
1. To use new high-throughput DNA-based technology for the detection of mutations causing familial PD. It is hoped that this will provide information about the relationship between the mutation type and the resulting phenotype of PD, thus leading to the development of a diagnostic testing service that will better aid physicians in disease diagnosis.
2. DNA from patients that carry no known mutation may be used to identify new disease-causing genes.
3. The function of mutations will be examined to provide clues to the cause of all forms of PD.

PD family recruitment
We are actively recruiting PD families and family members for our research. If you or your family are interested in participating in our research, please contact Natalie Page at npage@med.usyd.edu.au or on (02) 9767 7016.