C, caused by mutations in regulators of cholesterol transport NPC1 or NPC2, results in cholesterol accumulated in the lysosomes126–128. Cholesterol accumulation can also lead to demyelination, as seen in Cerebrotendinous Xanthomatosis, caused by mutations in the sterol 27-hydroxylase gene (CYP27A1)129,130. In addition, deficiencies in production of other lipids, such as sphingolipids, important for oligodendrocyte maturation, and fatty acids, lead to hypomyelination131–135.
