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Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
- Weinhofer, Isabelle (author)
- Rommer, Paulus (author)
- Zierfuss, Bettina (author)
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- Altmann, Patrick (author)
- Foiani, Martha (author)
- Heslegrave, Amanda (author)
- Gleiss, Andreas (author)
- Musolino, Patricia L (author)
- Gong, Yi (author)
- Forss-Petter, Sonja (author)
- Berger, Thomas (author)
- Eichler, Florian (author)
- Aubourg, Patrick (author)
- Köhler, Wolfgang (author)
- Berger, Johannes (author)
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- (creator_code:org_t)
- 2021-03-22
- 2021
- English.
- In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1
- Journal article (peer-reviewed)
Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Adolescent
- Adrenoleukodystrophy
- diagnosis
- metabolism
- Adult
- Biomarkers
- blood
- metabolism
- Child
- Cohort Studies
- Disease Progression
- Humans
- Intermediate Filaments
- metabolism
- Middle Aged
- Nerve Degeneration
- diagnosis
- metabolism
- Neurofilament Proteins
- blood
- metabolism
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Rommer, Paulus
- Zierfuss, Bettin ...
- Altmann, Patrick
- Foiani, Martha
- Heslegrave, Aman ...
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- Zetterberg, Henr ...
- Gleiss, Andreas
- Musolino, Patric ...
- Gong, Yi
- Forss-Petter, So ...
- Berger, Thomas
- Eichler, Florian
- Aubourg, Patrick
- Köhler, Wolfgang
- Berger, Johannes
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- University of Gothenburg
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