Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann–Pick C mice

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Abstract
Niemann–Pick type C (NPC) is a neurodegenerative disorder with somatically altered cholesterol metabolism. The NPC1 gene has recently been cloned and shown to have sequences shared with known sterol‐sensing proteins. We have used a mouse model with a disrupted Npc1 gene to study two cholesterol‐lowering drugs (nifedipine and probucol) and the effects of introducing a null mutation in the low‐density lipoprotein receptor (LDLR). Although these treatments significantly ameliorated liver cholesterol storage, little effect on the onset of neurological symptoms was found.