Niemann–Pick type C disease (NPCD-MIM 257220; MIM607625) is an autosomal recessive neurovisceral lysosomal storage disorder due to mutations in the NPC1 (95% of patients) or NPC2 genes, encoding two proteins involved in the intracellular trafficking of cholesterol and other lipids. Here, NPC1 is linked to Niemann-Pick disease type C.