Loss of function of ATP13A2 was initially reported in Kufor-Rakeb syndrome (KRS; Ramirez et al., 2006) and in three other distinct neurodegenerative conditions: juvenile-onset neuronal ceroid lipofuscinosis (Bras et al., 2012), juvenile-onset hereditary spastic paraplegia (Estrada-Cuzcano et al., 2017), and amyotrophic lateral sclerosis-like phenotype (Spataro et al., 2019). This evidence concerns the gene ATP13A2 and Kufor-Rakeb syndrome.