IDEAS home Printed from https://ideas.repec.org/a/nat/natcom/v12y2021i1d10.1038_s41467-021-22114-2.html
   My bibliography  Save this article

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy

Author

Listed:
  • Isabelle Weinhofer

    (Medical University of Vienna)

  • Paulus Rommer

    (Medical University of Vienna)

  • Bettina Zierfuss

    (Medical University of Vienna)

  • Patrick Altmann

    (Medical University of Vienna)

  • Martha Foiani

    (UK Dementia Research Institute at UCL
    University College London)

  • Amanda Heslegrave

    (UK Dementia Research Institute at UCL
    University College London)

  • Henrik Zetterberg

    (UK Dementia Research Institute at UCL
    University College London
    The Sahlgrenska Academy at the University of Gothenburg
    Sahlgrenska University Hospital)

  • Andreas Gleiss

    (Medical University of Vienna)

  • Patricia L. Musolino

    (Harvard Medical School, Massachusetts General Hospital)

  • Yi Gong

    (Harvard Medical School, Massachusetts General Hospital)

  • Sonja Forss-Petter

    (Medical University of Vienna)

  • Thomas Berger

    (Medical University of Vienna)

  • Florian Eichler

    (Harvard Medical School, Massachusetts General Hospital)

  • Patrick Aubourg

    (Kremlin-Bicêtre Hospital, University Paris-Saclay)

  • Wolfgang Köhler

    (Leukodystrophy Clinic, University of Leipzig Medical Center)

  • Johannes Berger

    (Medical University of Vienna)

Abstract

X-linked adrenoleukodystrophy (X-ALD), the most frequent monogenetic disorder of brain white matter, is highly variable, ranging from slowly progressive adrenomyeloneuropathy (AMN) to life-threatening inflammatory brain demyelination (CALD). In this study involving 94 X-ALD patients and 55 controls, we tested whether plasma/serum neurofilament light chain protein (NfL) constitutes an early distinguishing biomarker. In AMN, we found moderately elevated NfL with increased levels reflecting higher grading of myelopathy-related disability. Intriguingly, NfL was a significant predictor to discriminate non-converting AMN from cohorts later developing CALD. In CALD, markedly amplified NfL levels reflected brain lesion severity. In rare cases, atypically low NfL revealed a previously unrecognized smoldering CALD disease course with slowly progressive myelin destruction. Upon halt of brain demyelination by hematopoietic stem cell transplantation, NfL gradually normalized. Together, our study reveals that blood NfL reflects inflammatory activity and progression in CALD patients, thus constituting a potential surrogate biomarker that may facilitate clinical decisions and therapeutic development.

Suggested Citation

  • Isabelle Weinhofer & Paulus Rommer & Bettina Zierfuss & Patrick Altmann & Martha Foiani & Amanda Heslegrave & Henrik Zetterberg & Andreas Gleiss & Patricia L. Musolino & Yi Gong & Sonja Forss-Petter &, 2021. "Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy," Nature Communications, Nature, vol. 12(1), pages 1-10, December.
    • Handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-22114-2
    DOI: 10.1038/s41467-021-22114-2
    as

    Download full text from publisher

    File URL: https://www.nature.com/articles/s41467-021-22114-2
    File Function: Abstract
    Download Restriction: no
    File URL: https://libkey.io/10.1038/s41467-021-22114-2?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-22114-2. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Sonal Shukla or Springer Nature Abstracting and Indexing (email available below). General contact details of provider: http://www.nature.com .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.