ATP13A2 and Kufor-Rakeb syndrome: Clinically, more than 20 mutations of human ATP13A2 (hATP13A2) have been directly associated with the development of hereditary diseases like Kufor–Rakeb Syndrome (KRS; a type of juvenile-onset Parkinson’s disease) and autosomal recessive spastic paraplegia 78 (SPG78)8–11.