Decreased expression of DNMt3a and MBD proteins, reduced DNA methylation in the molecular and Purkinje cell layers, demethylation of genome-wide repetitive LINE-1 elements and hypermethylation in specific promoter regions of single-copy genes in NPC1-deficient cerebellum at early stages of the disease representing previously unrecognized mechanisms of NPC pathogenesis. This evidence concerns the gene NPC1 and nasopharyngeal carcinoma.