ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2024
Plasma concentrations of glial fibrillary acidic protein, neurofilament light, and tau in Alexander disease.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Neuroradiological patterns and prognostic implications in type I Alexander disease.Molecular genetics and metabolism · 2026Article
- Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.Annals of clinical and translational neurology · 2026Article
- Fluid and Neuroimaging Biomarkers in Microgliopathy Colony-Stimulating Factor-1 Receptor-Related Disorders.Annals of clinical and translational neurology · 2026Article
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.Current issues in molecular biology · 2024Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 6 countries.
Funding
Abstract
introductionAlexander disease (AxD) is a rare leukodystrophy caused by dominant gain-of-function mutations in the gene encoding the astrocyte intermediate filament, glial fibrillary acidic protein (GFAP). However, there is an urgent need for biomarkers to assist in monitoring not only the progression of disease but also the response to treatment. GFAP is the obvious candidate for such a biomarker, as it is measurable in body fluids that are readily accessible for biopsy, namely cerebrospinal fluid and blood. However, in the case of ASOs, the treatment that is furthest in development, GFAP is the target of therapy and presumably would go down independent of disease status. Hence, there is a critical need for biomarkers that are not directly affected by the treatment strategy.
methodsWe explored the potential utility of biomarkers currently being studied in other neurodegenerative diseases and injuries, specifically neurofilament light protein (NfL), phosphorylated forms of tau, and amyloid-β peptides (Aβ42/40). RESULTS AND
conclusionsHere, we report that GFAP is elevated in plasma of all age groups afflicted by AxD, including those with adult onset. NfL and p-tau are also elevated, but to a much lesser extent than GFAP. In contrast, the levels of Aß40 and Aß42 are not altered in AxD.
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