{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T17:13:56Z","timestamp":1784308436456,"version":"3.55.0"},"reference-count":16,"publisher":"Cambridge University Press (CUP)","license":[{"start":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T00:00:00Z","timestamp":1711497600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Acta Neuropsychiatr."],"published-print":{"date-parts":[[2025]]},"abstract":"<jats:title>Abstract<\/jats:title>\n\t  <jats:sec id=\"S0924270824000140_as1\">\n\t    <jats:title>Objective:<\/jats:title>\n\t    <jats:p>Niemann-Pick Type C (NPC) is a genetic neurodegenerative lysosomal storage disorder commonly associated with psychiatric symptoms and delays to accurate diagnosis and treatment. This study investigated biomarker levels and diagnostic utility of plasma neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in NPC compared to healthy controls.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0924270824000140_as2\">\n\t    <jats:title>Methods:<\/jats:title>\n\t    <jats:p>Patients with NPC were recruited from a specialist assessment and management service. Data was available from an age and sex-matched healthy control group. NfL and GFAP were measured on Quanterix Simoa HD-X analysers and groups compared using generalised linear models. NfL levels were compared to, and percentiles derived from, recently developed NfL reference ranges.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0924270824000140_as3\">\n\t    <jats:title>Results:<\/jats:title>\n\t    <jats:p>Plasma NfL was significantly elevated in 11 patients with NPC compared to 25 controls (mean 17.1 vs. 7.4 pg\/ml, <jats:italic>p<\/jats:italic> &lt; 0.001), and reference ranges (all &gt;98<jats:sup>th<\/jats:sup> percentile). NfL distinguished NPC from controls with high accuracy. GFAP levels were not elevated in NPC (66.6 vs. 75.1 pg\/ml).<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0924270824000140_as4\">\n\t    <jats:title>Discussion:<\/jats:title>\n\t    <jats:p>The study adds important evidence on the potential diagnostic utility of plasma NfL in NPC, extends the literature of NfL as a diagnostic tool to differentiate neurodegenerative from primary psychiatric disorders, and adds support to the pathology in NPC primarily involving neuronal, particularly axonal, degeneration.<\/jats:p>\n\t  <\/jats:sec>","DOI":"10.1017\/neu.2024.14","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T08:21:26Z","timestamp":1711527686000},"update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":7,"title":["Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal"],"prefix":"10.1017","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3226-7645","authenticated-orcid":false,"given":"Dhamidhu","family":"Eratne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Courtney","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Kelso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4953-4500","authenticated-orcid":false,"given":"Samantha","family":"Loi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Hsuan Michelle","family":"Chiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaj","family":"Blennow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Zetterberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander F","family":"Santillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Velakoulis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1389-3691","authenticated-orcid":false,"given":"Mark","family":"Walterfang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The MiND Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2024,3,27]]},"reference":[{"key":"S0924270824000140_ref14","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.2006.18.2.158"},{"key":"S0924270824000140_ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2022.120439"},{"key":"S0924270824000140_ref5","doi-asserted-by":"publisher","DOI":"10.1177\/0004867419893431"},{"key":"S0924270824000140_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.11.017"},{"key":"S0924270824000140_ref3","first-page":"100879","volume-title":"In Seminars in pediatric neurology 37. Uncommon neuropediatric diseases","author":"Berry-Kravis","year":"2021"},{"key":"S0924270824000140_ref12","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-018-0058-z"},{"key":"S0924270824000140_ref7","doi-asserted-by":"publisher","DOI":"10.1002\/alz.12549"},{"key":"S0924270824000140_ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-320106"},{"key":"S0924270824000140_ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2022.100843"},{"key":"S0924270824000140_ref4","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10204796"},{"key":"S0924270824000140_ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s40263-018-0599-0"},{"key":"S0924270824000140_ref8","doi-asserted-by":"publisher","DOI":"10.1177\/00048674231187312"},{"key":"S0924270824000140_ref2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-021-23620-z"},{"key":"S0924270824000140_ref11","first-page":"1","article-title":"Cerebrospinal fluid neurofilament light predicts longitudinal diagnostic change in patients with psychiatric and neurodegenerative disorders","volume":"36","author":"Kang","year":"2023","journal-title":"Acta Neuropsychiatrica"},{"key":"S0924270824000140_ref10","doi-asserted-by":"publisher","DOI":"10.37349\/ent.2021.00012"},{"key":"S0924270824000140_ref15","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e6210e"}],"container-title":["Acta Neuropsychiatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0924270824000140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T23:48:30Z","timestamp":1741823310000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0924270824000140\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,27]]},"references-count":16,"alternative-id":["S0924270824000140"],"URL":"https:\/\/doi.org\/10.1017\/neu.2024.14","relation":{},"ISSN":["0924-2708","1601-5215"],"issn-type":[{"value":"0924-2708","type":"print"},{"value":"1601-5215","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,27]]},"assertion":[{"value":"\u00a9 The Author(s), 2024. Published by Cambridge University Press on behalf of Scandinavian College of Neuropsychopharmacology","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http:\/\/creativecommons.org\/licenses\/by\/4.0\/), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}],"article-number":"e20"}}