The first mutations described in ATP13A2 cause an autosomal recessive form of early-onset parkinsonism called Kufor-Rakeb Syndrome (KRS, OMIM#606693)1 and neuronal ceroid lipofuscinosis (NCL, OMIM#256730), later assigned to PARK9 locus. This evidence concerns the gene ATP13A2 and Kufor-Rakeb syndrome.