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

Isabelle Weinhofer, Paulus Rommer, Bettina Zierfuss, Patrick Altmann, Martha Foiani, Amanda Heslegrave, Henrik Zetterberg, Andreas Gleiss, Patricia L. Musolino, Yi Gong, Sonja Forss-Petter, Thomas Berger, Florian Eichler, Patrick Aubourg, Wolfgang Köhler and Johannes Berger ()
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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
Amanda Heslegrave: UK Dementia Research Institute at UCL
Henrik Zetterberg: UK Dementia Research Institute at UCL
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

Nature Communications, 2021, vol. 12, issue 1, 1-10

Abstract: 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.

Date: 2021
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DOI: 10.1038/s41467-021-22114-2

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