Variants in ATP13A2 were firstly associated in 2006 to Kufor‐Rakeb syndrome (OMIM 606693), also known as Parkinson disease 9 with dementia (PARK9), (Ramirez et al. 2006) and were later identified in neuronal ceroid lipofuscinosis patients (Bras et al. 2012). Here, ATP13A2 is linked to infantile neuronal ceroid lipofuscinosis.