Among these, mutations in CLN7 (MFSD8) lead to a late-infantile form of NCL, with symptoms typically appearing between the ages of 2 and 4 years (Carcel-Trullols et al. (2015); Kousi et al. (2012); Pasquetti et al. (2023)). This evidence concerns the gene MFSD8 and neuronal ceroid lipofuscinosis.