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PET imaging GBA1 activity, a potential marker of early Parkinson's disease.
Principal Investigator
Dr. Christopher Phenix
Arts and Science
University of Saskatchewan
2016-2017 Establishment Grants
Three Year
Parkinson's disease affects 7-10 million people globally with 66,000 new cases diagnosed annually in the U.S/Canada. While the incidence of Parkinson's increases with age, an estimated 4% of patients are diagnosed prior to age 50.There is currently no diagnostic test for patients that are having early Parkinson's symptoms. Instead, the diagnosis typically occurs after the occurrence of advanced clinical symptoms where an estimated 50-60% of the cells in areas of the brain important for movement control are already dead. Mutations in the gene that encodes for β-glucocerebrosidase result in a lysosomal storage disorder called Gaucher Disease. Interestingly, a strong link between Gaucher and Parkinson's disease was established leading to the discovery that mutations in the glucocerebrosidase gene are the most potent genetic risk factor for developing Parkinson's disease. This work resulted in pioneering preclinical and clinical studies that have shown a deficiency in glucocerebrosidase enzyme activity is known to occur in both early and late Parkinson's as well as sporadic Parkinson's disease patients. This project will provide all the preliminary steps towards the development of a positron emission tomography method that will be useful as a research tool to investigate the role of glucocerebrosidase in Parkinson's disease as well as guide the development of novel Parkinson's therapies. Eventually, this work could lead to a new clinical test capable of detecting early Parkinson's disease based on a deficiency in glucocerebrosidase activity prior to the onset of advanced symptoms and neuron death.
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