Loss-of-function mutations in ATP13A2 (PARK9, OMIM 610513) are associated with the etiology of Kufor-Rakeb syndrome (KRS), a severe juvenile onset autosomal recessive form of Parkinson Disease (PD) with dementia [19–25], hereditary spastic paraplegia [26] and the lysosomal storage disorder neuronal ceroid lipofuscinosis [27–30]. This evidence concerns the gene ATP13A2 and lysosomal storage disease.