In humans, several pathogenic mutations in the gene encoding CtsD are linked to the congenital, late infantile or juvenile onset of type 10 Neuronal Ceroid Lipofuscinosis (NCL) [100,101,102,103,104,105,106], a severe neurodegenerative LSD characterised by the accumulation of autofluorescent lipopigments [107]. This evidence concerns the gene CTSD and neuronal ceroid lipofuscinosis.