Abstract: Parkinson’s disease (PD) is the second most frequent neurodegenerative disease after Alzheimer’s disease, with the cause is the co-activation of environmental and genetic factors. Sixteen gene loci and 11 disease genes have been identified. ATP13A2 gene located on PARK9 implicated in Kufor-Rakeb syndrome (KRS）and early-onset Parkinson’s disease(EOPD). This review will describe the advances concerning the ATP13A2 mutations in PD patients and function of this gene.

Key words: Parkinson’s disease, Kufor-Rakeb syndrome, EOPD, the ATP13A2 gene, metal cations