Cultured fibroblasts derived from patients with Kufor-Rakeb syndrome as well as ATP13A2-deficient cell lines have demonstrated that loss of this protein impairs lysosomal acidification, which in turn impairs the degradation of cargo by lysosomal hydrolases disrupting lysosome-mediated clearance of the autophagosomes [182, 184]. This evidence concerns the gene ATP13A2 and Kufor-Rakeb syndrome.