Di Fabio et al. described the neuroradiological features of Kufs disease type B in two Caucasian women carrying a homozygous c.213+1G>C variant in the CTSF gene, including brain volume reduction, periventricular and deep white matter hyperintensities, and thinning of the corpus callosum at the onset of cognitive decline, which may prompt clinicians to further investigate diagnostic signs of this disease [69]. This evidence concerns the gene CTSF and ceroid lipofuscinosis, neuronal, 4 (Kufs type).