ArticleNature communications2021
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
36 citing papers in PubMed, 60 citations in OpenAlex.
- Biomarker changes in cerebral adrenoleukodystrophy after gene therapy or allogeneic hematopoietic cell transplant.Molecular therapy. Advances · 2026Article
- Profiling of fatty acids and lipids in animal and human tissues yields new leads for disease progression biomarkers of X-linked adrenoleukodystrophy.The Journal of biological chemistry · 2026Article
- Neurodegenerative Diseases in Children: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Pretreatment blood NfL indicates response to cellular therapies in cerebral adrenoleukodystrophy.Communications medicine · 2026Article
- Neurofilament light chain as a prognostic marker in cerebral adrenoleukodystrophy.Brain : a journal of neurology · 2026Observational
- Inflammation and Immunomodulation in Cerebral X-linked Adrenoleukodystrophy: Review of Pathology and Interventions.Journal of child neurology · 2026Review
- Lipid signature in X-ALD: a comparison between phenotypes.Frontiers in molecular biosciences · 2026Article
- Multidomain Molecular Sensor Devices, Systems, and Algorithms for Improved Physiological Monitoring.Micromachines · 2025Review
- Safety and efficacy of leriglitazone in childhood cerebral adrenoleukodystrophy (NEXUS): an interim analysis of an open-label, phase 2/3 trial.EClinicalMedicine · 2025Article
- Neurofilament light chain as a biomarker to indicate early activation of cerebral disease in boys with adrenoleukodystrophy.Communications medicine · 2025Article
- Blood Biomarkers Reflecting Brain Pathology-From Common Grounds to Rare Frontiers.Journal of inherited metabolic disease · 2025Review
- Biomarkers for gene therapy clinical trials of lysosomal storage disorders.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Neurofilament Light Chain Levels Interact with Neurodegenerative Patterns and Motor Neuron Dysfunction in Amyotrophic Lateral Sclerosis.AJNR. American journal of neuroradiology · 2024Article
- Neurofilament light chain as a biomarker for acute hepatic porphyrias.Frontiers in neurology · 2024Article
- Efficacy of HDAC Inhibitors in Driving Peroxisomal β-Oxidation and Immune Responses in Human Macrophages: Implications for Neuroinflammatory Disorders.Biomolecules · 2023Article
- Intra-Operative Definition of Glioma Infiltrative Margins by Visualizing Immunosuppressive Tumor-Associated Macrophages.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.Neurology · 2023Article
- Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy.Annals of clinical and translational neurology · 2023Article
- Abcd1 deficiency accelerates cuprizone-induced oligodendrocyte loss and axonopathy in a demyelinating mouse model of X-linked adrenoleukodystrophy.Acta neuropathologica communications · 2023Article
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 5 countries.
Funding
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.
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