{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T16:54:11Z","timestamp":1789750451666,"version":"4.0.1"},"reference-count":33,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T00:00:00Z","timestamp":1646611200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Cerebral adrenoleukodystrophy (CALD) is a devastating, demyelinating neuroinflammatory manifestation found in up to 40% of young males with an inherited mutation in ABCD1, the causative gene in adrenoleukodystrophy. The search for biomarkers which correlate to CALD disease burden and respond to intervention has long been sought after. We used the Olink Proximity Extension Assay (Uppsala, Sweden) to explore the cerebral spinal fluid (CSF) of young males with CALD followed by correlative analysis with plasma. Using the Target 96 Neuro Exploratory panel, we found that, of the five proteins significantly increased in CSF, only neurofilament light chain (NfL) showed a significant correlation between CSF and plasma levels. Young males with CALD had a 11.3-fold increase in plasma NfL compared with controls. Importantly, 9 of 11 young males with CALD who underwent HCT showed a mean decrease in plasma NfL of 50% at 1 year after HCT compared with pre-HCT levels. In conclusion, plasma NfL could be a great value in determining outcomes in CALD and should be scrutinized in future studies in patients prior to CALD development and after therapeutic intervention.<\/jats:p>","DOI":"10.3390\/cells11050913","type":"journal-article","created":{"date-parts":[[2022,3,7]],"date-time":"2022-03-07T10:21:16Z","timestamp":1646648476000},"page":"913","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy"],"prefix":"10.3390","volume":"11","author":[{"given":"Hongge","family":"Wang","sequence":"first","affiliation":[{"name":"Translational Sciences, Sanofi Research, Sanofi, Framingham, MA 01701, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew D.","family":"Davison","sequence":"additional","affiliation":[{"name":"Translational Sciences, Sanofi Research, Sanofi, Framingham, MA 01701, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin L.","family":"Kramer","sequence":"additional","affiliation":[{"name":"Translational Sciences, Sanofi Research, Sanofi, Framingham, MA 01701, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9155-6957","authenticated-orcid":false,"given":"Weiliang","family":"Qiu","sequence":"additional","affiliation":[{"name":"Nonclinical Efficacy and Safety, Department of Biostatistics and Programming, Sanofi Development, Sanofi, Framingham, MA 01701, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Gladysheva","sequence":"additional","affiliation":[{"name":"Integrated Drug Discovery, Sanofi Research, Sanofi, Waltham, MA 02451, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruby M. S.","family":"Chiang","sequence":"additional","affiliation":[{"name":"Rare and Neurological Diseases Research Therapeutic Area, Sanofi, 49 New York Avenue, Framingham, MA 01701, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Kayatekin","sequence":"additional","affiliation":[{"name":"Rare and Neurological Diseases Research Therapeutic Area, Sanofi, 49 New York Avenue, Framingham, MA 01701, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Nascene","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Radiology, University of Minnesota Medical Center, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6985-8070","authenticated-orcid":false,"given":"Leyla A.","family":"Taghizadeh","sequence":"additional","affiliation":[{"name":"Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7622-8747","authenticated-orcid":false,"given":"Carina J.","family":"King","sequence":"additional","affiliation":[{"name":"Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin E.","family":"Nolan","sequence":"additional","affiliation":[{"name":"Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5679-5533","authenticated-orcid":false,"given":"Ashish O.","family":"Gupta","sequence":"additional","affiliation":[{"name":"Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Orchard","sequence":"additional","affiliation":[{"name":"Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9174-8919","authenticated-orcid":false,"given":"Troy C.","family":"Lund","sequence":"additional","affiliation":[{"name":"Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,3,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/1750-1172-7-51","article-title":"X-linked adrenoleukodystrophy (X-ALD): Clinical presentation and guidelines for diagnosis, follow-up and management","volume":"7","author":"Engelen","year":"2012","journal-title":"Orphanet J. 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