Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy

Hongge Wang, Matthew D. Davison, Martin L. Kramer, Weiliang Qiu, Tatiana Gladysheva, Ruby M.S. Chiang, Can Kayatekin, David R. Nascene, Leyla A. Taghizadeh, Carina J. King, Erin E. Nolan, Ashish O. Gupta, Paul J. Orchard, Troy C. Lund

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Cerebral adrenoleukodystrophy (CALD) is a devastating, demyelinating neuroinflamma-tory 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.

Original languageEnglish (US)
Article number913
Issue number5
StatePublished - Mar 1 2022

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© 2022 by the authors. Licensee MDPI, Basel, Switzerland.


  • Adrenoleukodystrophy
  • Biomarkers
  • Neurofilament light chain


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