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While data demonstrating neuroinflammation is prevalent in mouse models, data from NPC1 patients is lacking. The current study focuses on identifying potential markers of neuroinflammation in NPC1 from both the <jats:italic>Npc1<\/jats:italic> mouse model and NPC1 patients. We identified in the mouse model significant changes in expression of genes associated with inflammation and compared these results to the pattern of expression in human cortex and cerebellar tissue. From gene expression array analysis, complement 3 (<jats:italic>C3<\/jats:italic>) was increased in mouse and human post\u2010mortem NPC1 brain tissues. We also characterized protein levels of inflammatory markers in cerebrospinal fluid (CSF) from NPC1 patients and controls. We found increased levels of interleukin 3, chemokine (C\u2010X\u2010C motif) ligand 5, interleukin 16 and chemokine ligand 3 (CCL3), and decreased levels of interleukin 4, 10, 13 and 12p40 in CSF from NPC1 patients. CSF markers were evaluated with respect to phenotypic severity. Miglustat treatment in NPC1 patients slightly decreased IL\u20103, IL\u201010 and IL\u201013 CSF levels; however, further studies are needed to establish a strong effect of miglustat on inflammation markers. The identification of inflammatory markers with altered levels in the cerebrospinal fluid of NPC1 patients may provide a means to follow secondary events in NPC1 disease during therapeutic trials.<\/jats:p>","DOI":"10.1007\/s10545-013-9610-6","type":"journal-article","created":{"date-parts":[[2013,5,7]],"date-time":"2013-05-07T13:09:42Z","timestamp":1367932182000},"page":"83-92","source":"Crossref","is-referenced-by-count":82,"title":["Human and mouse neuroinflammation markers in Niemann\u2010Pick disease, type C1"],"prefix":"10.1002","volume":"37","author":[{"given":"Stephanie M.","family":"Cologna","sequence":"first","affiliation":[{"name":"Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology NICHD, NIH, DHHS Bld. 10, Rm. 9D42, 10 Center Dr Bethesda MD 20892 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine V. 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