Update on leukodystrophies: A historical perspective and adapted definition
Abstract
Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the following two decades, magnetic resonance imaging pattern recognition revolutionized the field, allowing the definition of numerous novel leukodystrophies. Their genetic defects were usually identified through genetic linkage studies. This process required substantial numbers of cases and many rare disorders remained unclarified. As recently as 2010, 50% of the leukodystrophy patients remained unclassified. Since 2011, whole-exome sequencing has resulted in an exponential increase in numbers of known, distinct, genetically determined, ultrarare leukodystrophies. We performed a retrospective study concerning three historical cohorts of unclassified leukodystrophy patients and found that currently at least 80% of the patients can be molecularly classified. Based on the original definition of the leukodystrophies, numerous defects in proteins important in myelin structure, maintenance, and function were expected. By contrast, a high percentage of the newly identified gene defects affect the housekeeping process of mRNA translation, shedding new light on white matter pathobiology and requiring adaptation of the leukodystrophy definition.
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The percentage of leukodystrophy cases without a specific diagnosis has been estimated to be 20-30%.
“Nevertheless, the percentage of leukodystrophy cases without a specific diagnosis has been estimated to be 20–30% [7,39,40].”
From Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1 (2023) · cites this paper as [40]
Our study lends support to a previous study that suggested that currently up to 80% of white matter disorders may be able to be solved.
“Our study lends support to a previous study that suggested that currently up to 80% of white matter disorders may be able to be solved.2”
From Genome sequencing in persistently unsolved white matter disorders (2020) · cites this paper as [2]
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Lammens, M. M. Y., Bekker, M. N., Willemsen, M. A. A. P., Bugiani, M., van Bokhoven, H., Ulzen, K. K.-V., & ten Donkelaar, H. J. (2023) · Springer eBooks · doi:10.1007/978-3-031-26098-8_3 · Cited by 2 · see citing works
Identification of a Novel Non-Canonical Splice-Site Variant in ABCD1
Zheng, F., Lin, Z., Hu, Y., Shi, X., Zhao, Q., & Lin, Z. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12020473 · Cited by 1 · see citing works
Neuroglial Pathophysiology of Leukodystrophies
Verkhratsky, A., Niu, J., Yi, C., & Butt, A. M. (2025) · Advances in neurobiology · doi:10.1007/978-3-031-87919-7_10 · Cited by 1 · see citing works
Nerakh, G., Vineeth, V. S., Dalala, A., & Aggarwal, S. (2025) · International Journal of Contemporary Pediatrics · doi:10.18203/2349-3291.ijcp20252610 · Cited by 1 · see citing works
Leukodystrophies and Inherited Metabolic Conditions
Ramji, S., Barkhof, F., & Mankad, K. (2019) · Springer eBooks · doi:10.1007/978-3-319-68536-6_33 · Cited by 1 · see citing works
Approaches to diagnosis for individuals with a suspected inherited white matter disorder
Helman, G., Orthmann‐Murphy, J. L., & Vanderver, A. L. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00009-0 · Cited by 1 · see citing works
Self-citationOverview of genetic variants in a cohort of Iranian patients with leukodystrophy
Fathi, M., Khalilian, S., Miryounesi, M., & Ghafouri‐Fard, S. (2025) · Scientific Reports · doi:10.1038/s41598-025-07597-z · Cited by 1 · see citing works
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Borges, E. D., Alves, N. C., Torrieri, É., Froio, K. C., & Pereira, P. A. T. (2022) · Research Society and Development · doi:10.33448/rsd-v11i13.35315 · Cited by 1 · see citing works
Brain MRI in mitochondrial disorders
Sankaran (2018) · doi:10.26481/dis.20180921bs
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Henneke, M., & Gärtner, J. (2020) · Springer Reference Medizin · doi:10.1007/978-3-662-60300-0_255
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Leucopathie diffuse et kystes sous corticaux : pensez à la maladie de Van der Knaap
Bellamlih, H., Taibi, B., Haddad, S. E., Allali, N., & Chat, L. (2020) · Journal d imagerie diagnostique et interventionnelle · doi:10.1016/j.jidi.2020.03.011
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Neurodegenerative Erkrankungen der weißen Hirnsubstanz
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- Authors
- Kevelam, S., Steenweg, M., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N., & van der Knaap, M.
- Affiliations
- Amsterdam Neuroscience (NL)
- Kennedy Krieger Institute (US)
- Children's National (US)
- Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, United States
- Division of Neuroradiology, The Hospital for Sick Children, Toronto, Ontario, Canada
- Department of Child Neurology, VU University Medical Centre, Amsterdam, The Netherlands
- Venue
- Neuropediatrics
- Publisher
- Georg Thieme Verlag KG
- Published
- 2016-08-26
- Volume
- 47
- Issue
- 06
- Pages
- 349-354
- ISSN
- 0174-304X (ISSN-L)
- 1439-1899
- OpenAlex
- W2510798868
- Cited by
- 112
- References
- 0
- Citations by year
- 2026: 1 · 2025: 11 · 2024: 11 · 2023: 11 · 2022: 6 · 2021: 15 · 2020: 15 · 2019: 24 · 2018: 9 · 2017: 8
- FWCI
- 7.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neuropediatrics (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- 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 › Genomics and Rare Diseases
- Keywords
- leukodystrophy, myelin disorders, genetic classification, molecular diagnosis, exome sequencing, genetic linkage studies, housekeeping genes
- MeSH terms
- Humans, RNA Polymerase III, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Hereditary Central Nervous System Demyelinating Diseases, History, 19th Century, History, 20th Century, History, 21st Century
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