ATP13A2 mutations have also been linked to other familial neurodegenerative diseases, including Kufor-Rakeb syndrome (KRS), hereditary spastic paraplegias (HSPs), amyotrophic lateral sclerosis (ALS), neurodegeneration with brain iron accumulation (NBIA) and neuronal ceroid lipofuscinosis (NCL)9–14. This evidence concerns the gene ATP13A2 and infantile neuronal ceroid lipofuscinosis.