To functionally characterize the novel ATP13A2 variant described in this study, we generated SH-SY5Y neuroblastoma cells overexpressing either wild-type ATP13A2, a catalytically dead variant that is defective in auto-phosphorylation (D508N, functioning as a negative control) or the Pro652_Glu653del variant. This evidence concerns the gene ATP13A2 and neuroblastoma.