| Literature DB >> 33753741 |
Isabelle Weinhofer1, Paulus Rommer2, Bettina Zierfuss1, Patrick Altmann2, Martha Foiani3,4, Amanda Heslegrave3,4, Henrik Zetterberg3,4,5,6, Andreas Gleiss7, Patricia L Musolino8, Yi Gong8, Sonja Forss-Petter1, Thomas Berger2, Florian Eichler8, Patrick Aubourg9, Wolfgang Köhler10, Johannes Berger11.
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.Entities:
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Year: 2021 PMID： 33753741 PMCID： PMC7985512 DOI： 10.1038/s41467-021-22114-2
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 14.919