Niemann-Pick disease type C (NPC; OMIM#257220, 607625) is a neurodegenerative multisystem lysosomal storage disorder with an autosomal inheritance pattern caused by impaired intracellular lipid trafficking leading to the progressive accumulation of cholesterol, glycosphingolipids, phospholipids, and sphingomyelin due to pathogenic variants in the NPC1 and NPC2 genes, with 95% of the cases related to variants in the NPC1 gene [1,2,3,4,5]. This evidence concerns the gene NPC1 and Niemann-Pick disease type C.