ReviewJournal of inherited metabolic disease2025
Blood Biomarkers Reflecting Brain Pathology-From Common Grounds to Rare Frontiers.
Review in Journal of inherited metabolic disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Pretreatment blood NfL indicates response to cellular therapies in cerebral adrenoleukodystrophy.Communications medicine · 2026Article
- Altered expression of LINC03091 and LINC03090 LncRNAs in bipolar disorder: a case-control study.Scientific reports · 2025Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Understanding pathological changes in the brain is essential for guiding treatment decisions in brain injuries and diseases. Despite significant advances in brain imaging techniques, clinical practice still faces challenges due to infrastructure reliance and high resource demands. This review explores the current knowledge on blood-based biomarkers that indicate brain pathology, which can assist in identifying at-risk patients, diagnosing patients, predicting disease progression, and treatment response. We focus on the inherited metabolic disorders X-linked adrenoleukodystrophy (X-ALD) and metachromatic leukodystrophy (MLD) which share remarkable phenotypic variability. Disease-specific increases in the lipid metabolites lyso-PC26:0 in X-ALD and sulfatides in MLD might contribute to predicting clinical manifestation. Disease-unspecific biomarkers for axonal damage (neurofilament light chain protein, NfL) and glial degeneration (glial fibrillary acidic protein, GFAP) are able to distinguish X-ALD and MLD phenotypes at the group level. The implementation of X-ALD into newborn screening programs in various countries, including several U.S. states, has increased the demand for predictive blood-based biomarkers capable of detecting the early conversion from the pre-symptomatic to the early neuroinflammatory cerebral form of X-ALD. Among different biomarkers, NfL has proven most effective in reflecting neuroinflammation and correlating with brain lesion volume and the magnetic resonance imaging (MRI)-based severity scores. We discuss how NfL has moved from initial proof-of-principle towards proof-of-concept studies in brain disorders such as multiple sclerosis and how this knowledge could be applied for the clinical implementation of NfL in rare inherited metabolic disorders such as X-ALD.
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Registered trials
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