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In addition to residual function of NPC1 protein, we hypothesize that modifier genes, as frequently observed with other autosomal recessive diseases, influence the NPC phenotype. The NPC1 phenotype includes progressive dementia, and the NPC pathology has some overlap with the pathology of Alzheimer disease (AD). Thus, we examined apolipoprotein E (ApoE) and microtubule\u2010associated protein tau (MAPT) polymorphisms in a cohort of 15 NPC1 patients with well characterized longitudinal disease progression. Although we did not find any correlations between disease severity and tau polymorphisms, we found significant associations between ApoE polymorphisms and phenotypic severity. Specifically, <jats:italic>ApoE4<\/jats:italic> and <jats:italic>ApoE2<\/jats:italic> alleles were associated, respectively, with increased and decreased disease severity in this cohort of NPC1 patients. These data support the hypothesis that ApoE may play a role in modulating NPC1 neuropathology. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35395","type":"journal-article","created":{"date-parts":[[2012,9,30]],"date-time":"2012-09-30T16:29:07Z","timestamp":1349022547000},"page":"2775-2780","source":"Crossref","is-referenced-by-count":41,"title":["Apolipoprotein E genotype and neurological disease onset in Niemann\u2013Pick disease, type C1"],"prefix":"10.1002","volume":"158A","author":[{"given":"Rao","family":"Fu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole M.","family":"Yanjanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew 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