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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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“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]
In the citing paper
“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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Self-citationCohen, L., Manín, A., Medina, N., Rodriguez-Quiroga, S. A., González‐Morón, D., Rosales, J. S., Amartino, H. M., Spécola, N. B., Córdoba, M., Kauffman, M., et al. (2019) · Annals of Human Genetics · doi:10.1111/ahg.12345 · Cited by 16
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Zarekiani, P., Breur, M., Wolf, N. I., de Vries, H. E., van der Knaap, M. S., & Bugiani, M. (2021) · Acta Neuropathologica Communications · doi:10.1186/s40478-021-01206-6 · Cited by 16
Self-citationShim, G., Romero-Morales, A. I., Sripathy, S. R., & Maher, B. J. (2024) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2023.1322813 · Cited by 16
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Dermer, E., Spahr, A., Tran, L. T., Mirchi, A., Pelletier, F., Guerrero, K., Ahmed, S. S., Brais, B., Braverman, N., Buhaş, D., et al. (2020) · Journal of Child Neurology · doi:10.1177/0883073820938645 · Cited by 12
Treatment of leukodystrophies: Advances and challenges.
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Urbik, V. M., Schmiedel, M., Soderholm, H. E., & Bonkowsky, J. L. (2020) · Child Neurology Open · doi:10.1177/2329048x20939003 · Cited by 12
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Jorge, M. S., & Bugiani, M. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-9913-8_9 · Cited by 11
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Schiller, S. A., Henneke, M., & Gärtner, J. (2019) · Neuropediatrics · doi:10.1055/s-0039-1685529 · Cited by 9
Lok, H. C., & Kwok, J. B. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22052541 · Cited by 10
Derksen, A., Shih, H., Forget, D., Darbelli, L., Tran, L. T., Poitras, C., Guerrero, K., Tharun, S., Alkuraya, F. S., Kurdi, W., et al. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100034 · Cited by 9
Helman, G., Zerem, A., Almad, A., Hacker, J. L., Woidill, S., Sase, S., LeFevre, A. N., Ekstein, J., Johansson, M. M., Stutterd, C., et al. (2021) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2021.04.014 · Cited by 9
Self-citationKhorrami, M., Khorram, E., Yaghini, O., Rezaei, M., Hejazifar, A., Iravani, O., Yazdani, V., Riahinezhad, M., & Kheirollahi, M. (2021) · Journal of Molecular Neuroscience · doi:10.1007/s12031-021-01810-0 · Cited by 9
Biglari, S., Vahidnezhad, H., Tabatabaiefar, M. A., Khorshid, H. R. K., & Esmaeilzadeh, E. (2024) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2435 · Cited by 6
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Bettinger, C., Dulz, S., Atiskova, Y., Guerreiro, H., Schön, G., Guder, P., Maier, S. L., Denecke, J., & Bley, A. E. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13175114 · Cited by 7
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Barczykowski, A. L., Langan, T. J., Vanderver, A. L., Jalal, K., & Carter, R. L. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62248 · Cited by 7
Self-citationPediatric leukodystrophies: The role of the otolaryngologist
Kay‐Rivest, E., Khendek, L., Bernard, G., & Daniel, S. J. (2017) · International Journal of Pediatric Otorhinolaryngology · doi:10.1016/j.ijporl.2017.07.039 · Cited by 7
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Wolf, N. I., Engelen, M., & van der Knaap, M. S. (2024) · Handbook of clinical neurology · doi:10.1016/b978-0-323-99209-1.00019-3 · Cited by 6
Self-citationPerrier, S., Guerrero, K., Tran, L. T., Michell‐Robinson, M. A., Legault, G., Brais, B., Sylvain, M., Dorman, J., Demos, M. K., Köhler, W., et al. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1148377 · Cited by 7
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Alagia, M., Cappuccio, G., Torella, A., D’Amico, A., Mazio, F., Romano, A., Fecarotta, S., Casari, G., Nigro, V., TUDP, et al. (2020) · JIMD Reports · doi:10.1002/jmd2.12094 · Cited by 6
Childbearing indices in the Arab world.
Horne, A. D., & El‐Khorazaty, M. N. (1987) · PubMed · Cited by 6
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Takanashi, J. (2025) · Brain and Development · doi:10.1016/j.braindev.2025.104345 · Cited by 5
Ashrafi, M. R., Kameli, R., Hosseinpour, S., Razmara, E., Zamani, Z., Rezaei, Z., Mashayekhi, R., Pak, N., Barzegar, M., Malamiri, R. A., et al. (2023) · Neurogenetics · doi:10.1007/s10048-023-00730-y · Cited by 5
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Perrier, S., Macintosh, J., Misiaszek, A. D., Lambert, G., Guerrero, K., Tran, L. T., Müller, C. W., Pastinen, T., Maegawa, G. H. B., Thiffault, I., et al. (2024) · Human Mutation · doi:10.1155/2024/8807171 · Cited by 4
Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)
Gençdal, I. Y., Di̇nçer, A., Obuz, O., & Yapıcı, Z. (2020) · The Neurologist · doi:10.1097/nrl.0000000000000286 · Cited by 4
Dehnavi, A. Z., Heidari, E., Rasulinezhad, M., Heidari, M., Ashrafi, M. R., Hosseini, M. M., Sadeghzadeh, F., Fallah, M., Rostampour, N., Bahraini, A., et al. (2021) · Human Genomics · doi:10.1186/s40246-021-00345-0 · Cited by 4
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Gajbhiye, V. P., Lamture, Y. R., & Uke, P. (2022) · Cureus · doi:10.7759/cureus.33155 · Cited by 4
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Zerem, A., Libzon, S., Ben‐Sira, L., Meirson, H., Hausman‐Kedem, M., Haviv, N., Yosovich, K., Mory, A., Feldman, H. B., Lev, D., et al. (2023) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2023.05.008 · Cited by 4
Chapleau, A., Perrier, S., Durcan, T. M., & Bernard, G. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00533-0 · Cited by 3
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Wan, L., Yu, D., Li, Z., Liu, X., Liang, Y., Yan, H., Zhu, G., Zhang, B., & Yang, G. (2023) · Epilepsia Open · doi:10.1002/epi4.12751 · Cited by 3
Esmer, C., Hernández, G. B., Saavedra-Alanis, V. M., Reyes-Vaca, J. G., & Oro, A. B. (2017) · Boletín Médico del Hospital Infantil de México · doi:10.1016/j.bmhimx.2017.07.002 · Cited by 3
Alotaibi, L., & AlQassmi, A. (2023) · Global Medical Genetics · doi:10.1055/s-0043-1764370 · Cited by 3
Manisha, K. Y., Fasaludeen, A., Poulose, P., Menon, R. N., Thomas, B., Nair, S. S., Cherian, A., Divya, K. P., & Sundaram, S. (2024) · Neurology Genetics · doi:10.1212/nxg.0000000000200190 · Cited by 2
Hol, E. M., Dykstra, W., Chevalier, J., Cuadrado, E., Bugiani, M., Aronica, E., & Verkhratsky, A. (2025) · Handbook of clinical neurology · doi:10.1016/b978-0-443-19102-2.00032-6 · Cited by 3
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Meena, A. K., Wander, A., Mahesan, A., Kamila, G., Kumar, A., Chakrabarty, B., Jauhari, P., & Gulati, S. (2025) · Neurology India · doi:10.4103/neurol-india.neurol-india-d-24-00198 · Cited by 2
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Alves, C., Teixeira, S. R., Gonçalves, F. G., & Zuccoli, G. (2019) · Springer eBooks · doi:10.1007/978-3-030-05517-2_18 · Cited by 2
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Ramji, S., Barkhof, F., & Mankad, K. (2019) · Springer eBooks · doi:10.1007/978-3-319-61423-6_33-1 · Cited by 2
Hamilton, N., Rutherford, H. A., Isles, H. M., Petts, J. J., Weber, T., Henneke, M., Gärtner, J., Dunning, M., & Renshaw, S. A. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/744144 · Cited by 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
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Zheng, F., Lin, Z., Hu, Y., Shi, X., Zhao, Q., & Lin, Z. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12020473 · Cited by 1
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Metadata
- 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
- Corresponding author
- van der Knaap, Marjo
- ORCID
- 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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