Reduced levels of CYP46A1 have been associated with other protein misfolding diseases such as Alzheimer’s disease (AD), Parkinson’s disease (PD) and Huntington’s disease (HD) as well as other neurodegenerative diseases e.g. Niemann-Pick disease type C (NPC) [17–21]. Here, CYP46A1 is linked to early-onset autosomal dominant Alzheimer disease.