{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T01:08:48Z","timestamp":1776474528670,"version":"3.51.2"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T00:00:00Z","timestamp":1734393600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015411","name":"Ara Parseghian Medical Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Niemann\u2010Pick disease, type C1 (NPC1) is an ultra rare, autosomal recessive disorder characterized by impaired intracellular cholesterol trafficking. This study assessed neuron\u2010specific enolase (NSE) as a biomarker for disease status and treatment response in individuals with NPC1. We also evaluated the concordance between serum and cerebrospinal fluid (CSF) NSE measurements. A total of 34 individuals with NPC1 were included in this analysis. Overall, 10 participants were used to compare concurrent samples of CSF and serum NSE. NSE levels were correlated with indexes of disease severity (Annual Severity Increment Score [ASIS] and age of neurological onset) and disease burden (NPC Neurological Severity Score [NSS]). NSE was elevated in CSF, but paired CSF\/serum samples were not correlated (<jats:italic>r<\/jats:italic>\n<jats:sup>s<\/jats:sup>\u2009=\u2009\u22120.16, <jats:italic>p<\/jats:italic>\u2009=\u20090.64). Additionally, no significant correlations were observed between serum NSE levels and clinical measures of either disease burden or severity. CSF NSE values showed a significant positive association with the ASIS (<jats:italic>r<\/jats:italic>\n<jats:sup>s<\/jats:sup>\u2009=\u20090.37, <jats:italic>p<\/jats:italic>\u2009=\u20090.0291) but no association with age of neurological onset or NPC NSSs. Longitudinal analysis of nine participants showed a significant (<jats:italic>p<\/jats:italic>\u2009=\u20090.0317) decrease in CSF NSE levels after initiation of intrathecal 2\u2010hydroxypropyl\u2010\u03b2\u2010cyclodextrin (IT HP\u03b2CD) therapy. This study suggests that CSF NSE may have some utility as a biomarker in NPC1 therapeutic trials.<\/jats:p>","DOI":"10.1002\/ajmg.a.63970","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T11:03:16Z","timestamp":1734433396000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cerebrospinal Fluid and Serum Neuron\u2010Specific Enolase in Niemann\u2010Pick Disease Type <scp>C1<\/scp>"],"prefix":"10.1002","volume":"197","author":[{"given":"Cameron J.","family":"Padilla","sequence":"first","affiliation":[{"name":"Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derek M.","family":"Alexander","sequence":"additional","affiliation":[{"name":"Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Desiree A.","family":"Labor","sequence":"additional","affiliation":[{"name":"Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orsolya K.","family":"Albert","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rush University Medical Center  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kendall P.","family":"Robbins","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rush University Medical Center  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Berry\u2010Kravis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Neurological Sciences and Anatomy and Cell Biology Rush University Medical Center  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9397-0046","authenticated-orcid":false,"given":"Forbes D.","family":"Porter","sequence":"additional","affiliation":[{"name":"Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) National Institutes of Health  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40364\u2010023\u201000448\u2010x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20101331.2004.01021.x"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010018\u20100880\u20109"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.11.008"},{"key":"e_1_2_10_6_1","first-page":"29","volume-title":"In","author":"Cummings J.","year":"2019"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/00207454.2016.1161623"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201002115\u20106"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcp.2021.114786"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci8020033"},{"key":"e_1_2_10_11_1","first-page":"125","volume-title":"In","author":"Isgr\u00f2 M. 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