Observational studyAnnals of neurology2018
Natural History of Vanishing White Matter.
Observational study in Annals of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
What it found
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The trial behind it
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Who cites it
78 citing papers in PubMed.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Astrocytes in Neurodegeneration: Spatial States, Crosstalk, and Emerging Therapies.Molecular neurobiology · 2026Review
- Pediatric pharmacokinetics and pharmacodynamics of guanabenz for the treatment of vanishing white matter.Scientific reports · 2026Article
- Clinical and genetic characteristics of pediatric patients with vanishing white matter disease: a retrospective single-center study.Acta neurologica Belgica · 2026Article
- Endogenous Repair in Vanishing White Matter.Annals of neurology · 2026Article
- Article
- Risk of Seizures and Epilepsy in the Leukodystrophies.Pediatric neurology · 2026Article
- When exome analysis is the key for your patient with cognitive decline: a case report.Dementia & neuropsychologia · 2026Article
- Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant.Frontiers in genetics · 2026Review
- Prime editing links the split integrated stress response to pathogenic eIF2B mutations and white matter degeneration.Cell death & disease · 2025Article
- Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.Neurology · 2025Review
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter.Brain : a journal of neurology · 2025Article
- Vanishing White Matter Disease WithNeurology. Genetics · 2025Article
- White Matter Disease in a Toddler With New-Onset Seizures.Annals of the Child Neurology Society · 2025Article
- The impact of vanishing white matter on unaffected family members.Orphanet journal of rare diseases · 2025Article
- Chronic integrated stress response causes dysregulated cholesterol synthesis in white matter disease.JCI insight · 2025Article
- Quantitative MRI distinguishes different leukodystrophies and correlates with clinical measures.European radiology · 2025Article
- Adult-onset vanishing white matter disease due to a novel compound heterozygous EIF2B2 mutation: a case report and brief review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Effects of the Small-Molecule ISRIB on the Rapid and Efficient Myelination of Oligodendrocytes in Human Stem Cell-Derived Cerebral Organoids in Patients With Leukoencephalopathy With Vanishing White Matter.CNS neuroscience & therapeutics · 2025Article
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
objectiveTo comprehensively describe the natural history of vanishing white matter (VWM), aiming at improving counseling of patients/families and providing natural history data for future therapeutic trials.
methodsWe performed a longitudinal multicenter study among 296 genetically confirmed VWM patients. Clinical information was obtained via disease-specific clinical questionnaire, Health Utilities Index and Guy's Neurological Disability Scale assessments, and chart review.
resultsFirst disease signs occurred at a median age of 3 years (mode = 2 years, range = before birth to 54 years); 60% of patients were symptomatic before the age of 4 years. The nature of the first signs varied for different ages of onset. Overall, motor problems were the most common presenting sign, especially in children. Adolescent and adult onset patients were more likely to exhibit cognitive problems early after disease onset. One hundred two patients were deceased. Multivariate Cox regression analysis revealed a positive relation between age at onset and both preservation of ambulation and survival. Absence of stress-provoked episodes and absence of seizures predicted more favorable outcome. In patients with onset before 4 years, earlier onset was associated with more severe disability and higher mortality. For onset from 4 years on, disease course was generally milder, with a wide variation in severity. There were no significant differences for sex or for the 5 eIF2B gene groups. The results confirm the presence of a genotype-phenotype correlation.
interpretationThe VWM disease spectrum consists of a continuum with extremely wide variability. Age at onset is a strong predictor for disease course. Ann Neurol 2018;84:274-288.
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