While brain pathology is not available from any patient diagnosed with Kufor-Rakeb disease during life, genetic work-up using exome sequencing recently allowed retrospective identification of ATP13A2 mutations in a family diagnosed with juvenile neuronal ceroid-lipofuscinosis (NCL) [141-143] for who brain pathology is available [144]. Here, ATP13A2 is linked to neuronal ceroid lipofuscinosis.