ATP13A2 and Kufor-Rakeb syndrome: 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.