Mutations in Niemann Pick type C gene are risk factor for Alzheimer's disease

Having in mind above mentioned correlations, we hypothesized that heterozygous mutations in the NPC gene may act as an independent risk factor for Alzheimer's disease. If true, this would expand link between lysosomal disorders and neurodegenerative diseases. Also, if heterozygous NPC1/2 mutation carriers develop AD we assume it would be worth trying with miglustat-specific therapy recommended for NPC disease.