Imaging the neurogenetics of Parkinson's Disease

Aims: Mutations in the Parkin (PARK2) or PINK1 (PARK6) gene are associated with recessively inherited forms of parkinsonism. 18F-DOPA PET studies have shown that asymptomatic carriers with a single mutant allele in the Parkin or PINK1 gene have latent presynaptic dopaminergic dysfunction in the striatum, presumably caused by subclinical neurodegeneration of nigrostriatal projections. Since asymptomatic Parkin and PINK1 mutation carriers represent at-risk individuals to develop parkinsonism in later life, they are an ideal population to study functional and structural reorganization at the preclinical stage of pa…