ReviewActa neuropathologica2017
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.
Review in Acta neuropathologica, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 211 papers, 3 of them syntheses that pooled it.
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Who cites it
211 citing papers in PubMed, 3 syntheses or guidelines pooled it, 405 citations in OpenAlex.
- Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology · 2026Pooled it
- Cognitive and intellectual functioning in leukodystrophy patients: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Association of Rare Variants in ARSA with Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023Pooled it
- Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.Annals of neurology · 2020Trial
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Experimental induction of myelin damage in post-mortem human brain slice cultures.Acta neuropathologica communications · 2026Article
- Oligodendroglial TANGO2 Regulates Lipid Metabolism to Control Motor Coordination.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Advances in Research onGenes · 2026Review
- Biallelic variants inResearch square · 2026Article
- Pediatric pharmacokinetics and pharmacodynamics of guanabenz for the treatment of vanishing white matter.Scientific reports · 2026Article
- Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.The Journal of clinical investigation · 2026Article
- Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophies.medRxiv : the preprint server for health sciences · 2026Article
- Multi-contrast dual-resolution UTE for myelin fraction mapping and structural imaging.Magma (New York, N.Y.) · 2026Article
- Curing the brain: in search for new astrocyte-specific therapies.Experimental & molecular medicine · 2026Review
- B-Cell Depletion as Evidence for Shared Neuroimmune Pathways in Combined Central and Peripheral Demyelination: A Case Report and Literature Review.International journal of molecular sciences · 2026Review
- Endogenous Repair in Vanishing White Matter.Annals of neurology · 2026Article
- Targeting astrocytic CLC2(CLCN2) restores myelin regeneration through inhibition of SPP1/CD44 signaling pathway in leukoencephalopathy.Molecular psychiatry · 2026Article
- Basic Microglial Functions and How They Go Awry in Neurodegenerative Disease.Annual review of pathology · 2026Review
- Risk of Seizures and Epilepsy in the Leukodystrophies.Pediatric neurology · 2026Article
- Glial Ion Channels in Myelin Pathophysiology: Insights from Leukodystrophies.Life (Basel, Switzerland) · 2025Review
151 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at any age, from prenatal life to senescence. Many leukodystrophies are degenerative in nature, but some only impair white matter function. The clinical course is mostly progressive, but may also be static or even improving with time. Progressive leukodystrophies are often fatal, and no curative treatment is known. The last decade has witnessed a tremendous increase in the number of defined leukodystrophies also owing to a diagnostic approach combining magnetic resonance imaging pattern recognition and next generation sequencing. Knowledge on white matter physiology and pathology has also dramatically built up. This led to the recognition that only few leukodystrophies are due to mutations in myelin- or oligodendrocyte-specific genes, and many are rather caused by defects in other white matter structural components, including astrocytes, microglia, axons and blood vessels. We here propose a novel classification of leukodystrophies that takes into account the primary involvement of any white matter component. Categories in this classification are the myelin disorders due to a primary defect in oligodendrocytes or myelin (hypomyelinating and demyelinating leukodystrophies, leukodystrophies with myelin vacuolization); astrocytopathies; leuko-axonopathies; microgliopathies; and leuko-vasculopathies. Following this classification, we illustrate the neuropathology and disease mechanisms of some leukodystrophies taken as example for each category. Some leukodystrophies fall into more than one category. Given the complex molecular and cellular interplay underlying white matter pathology, recognition of the cellular pathology behind a disease becomes crucial in addressing possible treatment strategies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.