Axonal abnormalities in vanishing white matter.
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Abstract Objective We aimed to study the occurrence and development of axonal pathology and the influence of astrocytes in vanishing white matter. Methods Axons and myelin were analyzed using electron microscopy and immunohistochemistry on Eif2b4 and Eif2b5 single‐ and double‐mutant mice and patient brain tissue. In addition, astrocyte‐forebrain co‐culture studies were performed. Results In the corpus callosum of Eif2b5‐mutant mice, myelin sheath thickness, axonal diameter, and G‐ratio developed normally up to 4 months. At 7 months, however, axons had become thinner, while in control mice axonal diameters had increased further. Myelin sheath thickness remained close to normal, resulting in an abnormally low G‐ratio in Eif2b5‐mutant mice. In more severely affected Eif2b4‐Eif2b5 double‐mutants, similar abnormalities were already present at 4 months, while in milder affected Eif2b4 mutants, few abnormalities were observed at 7 months. Additionally, from 2 months onward an increased percentage of thin, unmyelinated axons and increased axonal density were present in Eif2b5‐mutant mice. Co‐cultures showed that Eif2b5 mutant astrocytes induced increased axonal density, also in control forebrain tissue, and that control astrocytes induced normal axonal density, also in mutant forebrain tissue. In vanishing white matter patient brains, axons and myelin sheaths were thinner than normal in moderately and severely affected white matter. In mutant mice and patients, signs of axonal transport defects and cytoskeletal abnormalities were minimal. Interpretation In vanishing white matter, axons are initially normal and atrophy later. Astrocytes are central in this process. If therapy becomes available, axonal pathology may be prevented with early intervention.
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White matter abnormalities, particularly axonal transport deficiencies, are important components of AD.
“White matter abnormalities, particularly axonal transport deficiencies, are also important components of AD (Klok et al., 2018).”
From Age-dependent microstructure alterations in 5xFAD mice by high-resolution diffusion tensor imaging (2022) · cites this paper as Klok et al., 2018
The Introduction and Discussion address vanishing white matter disease (VWM), not AD; searches for Alzheimer’s disease and AD found no passage assessing either condition in AD. The Discussion says disturbed axonal transport does not appear to be a central problem in VWM, but that finding cannot establish or refute the claim about AD. (LLM, conf=0.77)
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Additional file 4 of Regional vulnerability of brain white matter in vanishing white matter
Man, J. H. K., van Gelder, C. A. G. H., Breur, M., Molenaar, D., Abbink, T. E. M., Altelaar, M. A. F., Bugiani, M., & van der Knaap, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26599010
Self-citationAdditional file 6 of Regional vulnerability of brain white matter in vanishing white matter
Man, J. H. K., van Gelder, C. A. G. H., Breur, M., Molenaar, D., Abbink, T. E. M., Altelaar, M. A. F., Bugiani, M., & van der Knaap, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26599016
Self-citationAdditional file 5 of Regional vulnerability of brain white matter in vanishing white matter
Man, J. H. K., van Gelder, C. A. G. H., Breur, M., Molenaar, D., Abbink, T. E. M., Altelaar, M. A. F., Bugiani, M., & van der Knaap, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26599013
Self-citationAdditional file 8 of Regional vulnerability of brain white matter in vanishing white matter
Man, J. H. K., van Gelder, C. A. G. H., Breur, M., Molenaar, D., Abbink, T. E. M., Altelaar, M. A. F., Bugiani, M., & van der Knaap, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26599022
Self-citationAdditional file 7 of Regional vulnerability of brain white matter in vanishing white matter
Man, J. H. K., van Gelder, C. A. G. H., Breur, M., Molenaar, D., Abbink, T. E. M., Altelaar, M. A. F., Bugiani, M., & van der Knaap, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26599019
Self-citationAdditional file 2 of Regional vulnerability of brain white matter in vanishing white matter
Man, J. H. K., van Gelder, C. A. G. H., Breur, M., Molenaar, D., Abbink, T. E. M., Altelaar, M. A. F., Bugiani, M., & van der Knaap, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26599004
Self-citationAdditional file 3 of Regional vulnerability of brain white matter in vanishing white matter
Man, J. H. K., van Gelder, C. A. G. H., Breur, M., Molenaar, D., Abbink, T. E. M., Altelaar, M. A. F., Bugiani, M., & van der Knaap, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26599007
Self-citationAdditional file 1 of Regional vulnerability of brain white matter in vanishing white matter
Man, J. H. K., van Gelder, C. A. G. H., Breur, M., Molenaar, D., Abbink, T. E. M., Altelaar, M. A. F., Bugiani, M., & van der Knaap, M. S. (2024) · Figshare · doi:10.6084/m9.figshare.26599001
Self-citationA high-resolution phenotypic screen identifies regulators of CNS axon diameter in zebrafish
Eichel‐Vogel, M. A., Soong, D. Y. H., Sequeira, M. N., Ibenfeldt, M. L. A., Marshall-Phelps, K. L., Bin, J. M., & Lyons, D. A. (2026) · PLoS Biology · doi:10.1371/journal.pbio.3003895 · Cited by 1 · see citing works
- Authors
- Klok, M. D., Bugiani, M., de Vries, S. I., Gerritsen, W., Breur, M., van der Sluis, S., Heine, V. M., Kole, M. H. P., Baron, W., & van der Knaap, M. S.
- Affiliations
- Amsterdam Neuroscience (NL)
- Department of Axonal Signaling Netherlands Institute for Neuroscience Amsterdam The Netherlands
- Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Medical Centre Amsterdam The Netherlands
- Netherlands Institute for Neuroscience (NL)
- University Medical Center Groningen (NL)
- Department of Pediatrics/Child Neurology Amsterdam Neuroscience VU University Medical Centre Amsterdam The Netherlands
- Venue
- Annals of Clinical and Translational Neurology
- Publisher
- Wiley
- Published
- 2018-03
- Volume
- 5
- Issue
- 4
- Pages
- 429-444
- ISSN
- 2328-9503 (ISSN-L)
- PMC
- PMC5899913
- OpenAlex
- W2790166497
- Cited by
- 38
- References
- 44
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 13 · 2023: 3 · 2022: 4 · 2021: 3 · 2020: 2 · 2019: 4 · 2018: 2
- FWCI
- 1.25
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Annals of Clinical and Translational Neurology (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, cc-by)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- KNAW Research Portal (The Royal Netherlands Academy of Arts and Sciences) (publishedVersion, other-oa)
- VU Research Portal (publishedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- KNAW research portal (Royal Academy of Art and Sciences (KNAW)) (submittedVersion, other-oa)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, cc-by-nc-nd)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Funders
- ZonMw (91712343)
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- vanishing white matter disease, axonal pathology, myelin thickness, g-ratio, EIF2B5, eIF2B mutations, astrocytes, axon density, axonal transport, cytoskeletal abnormalities, corpus callosum
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