CTSF and ceroid lipofuscinosis, neuronal, 4 (Kufs type): Novel compound heterozygous variants in the CTSF gene, a missense variant c.977G>T (p.C326F) and a nonsense variant c.416C>A (p.S139X), causing Kufs disease type B, have also been detected and updated with magnetic resonance imaging findings: diffuse cortical atrophy, mild hyperintensity and a reduction in deep white matter on T2-weighted images [67].