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

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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.

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Neurovetenskaper hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Neurosciences hsv//eng
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

Rommer, Paulus (author)
Zierfuss, Bettina (author)
Altmann, Patrick (author)
Foiani, Martha (author)
Heslegrave, Amanda (author)
Zetterberg, Henrik,1973Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xzethe (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)
Göteborgs universitetInstitutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi (creator_code:org_t)

By the author/editor: Weinhofer, Isabe ...; Rommer, Paulus; Zierfuss, Bettin ...; Altmann, Patrick; Foiani, Martha; Heslegrave, Aman ...; show more...; Zetterberg, Henr ...; Gleiss, Andreas; Musolino, Patric ...; Gong, Yi; Forss-Petter, So ...; Berger, Thomas; Eichler, Florian; Aubourg, Patrick; Köhler, Wolfgang; Berger, Johannes; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Neurosciences

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