To date, mutations in ATP13A2 have been associated with three overlapping yet distinct autosomal recessive disorders: Kufor-Rakeb syndrome (OMIM 606693), spastic paraplegia 78 (SPG78, OMIM 617225), and juvenile-onset neuronal ceroid lipofuscinoses (CLN12; 22388936). This evidence concerns the gene ATP13A2 and Kufor-Rakeb syndrome.