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. Here, ATP13A2 is linked to parkinsonism due to ATP13A2 deficiency.