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Cited by 112Hereditary Neurological DisordersMetabolism and Genetic DisordersGenomics and Rare Diseases

The DOI matches its Crossref record.

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

Kevelam, Sietske, Steenweg, Marjan, Srivastava, Siddharth, Helman, Guy, Naidu, Sakkubai, Schiffmann, Raphael, Blaser, Susan, Vanderver, Adeline, Wolf, Nicole, van der Knaap, Marjo·2016·Neuropediatrics
DOI 10.1055/s-0036-1588020
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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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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
DOI
10.1055/s-0036-1588020
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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