ATP13A2 (PARK9) and basal ganglia function.

ATP13A2 is a lysosomal protein involved in polyamine transport with loss of function mutations associated with multiple neurodegenerative conditions. These include early onset Parkinson's disease, Kufor-Rakeb Syndrome, neuronal ceroid lipofuscinosis, hereditary spastic paraplegia, and amyotrophic lateral sclerosis. While mutations may result in clinical heterogeneity, the basal ganglia appear to be impacted in the majority of cases.