Using exome sequencing and targeted massive parallel resequencing, a homozygous variant p.Ile404Thr in the CTSF gene was found to cosegregate in a Belgian family with Kufs disease, while a heterozygous variant p.Arg245His was detected in two patients with a common haplotype from a Belgian cohort of unrelated patients with frontotemporal dementia [66]. This evidence concerns the gene CTSF and adult neuronal ceroid lipofuscinosis.