ArticleBMC psychiatry2020
The disappearance of white matter in an adult-onset disease: a case report.
Article in BMC psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Cognitive and intellectual functioning in leukodystrophy patients: a systematic review.Orphanet journal of rare diseases · 2025Pooled it
- Clinical and genetic characteristics of pediatric patients with vanishing white matter disease: a retrospective single-center study.Acta neurologica Belgica · 2026Article
- Adult-onset vanishing white matter disease caused by the EIF2B5 c.185A>T (p.Asp62Val) variant.Frontiers in genetics · 2026Review
- A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants.BMC neurology · 2025Article
- MRI diagnosis of a juvenile leukoencephalopathy with vanishing white matter: A rare case report from Morocco and literature review.Radiology case reports · 2025Article
- Multisite Injections of Canine Glial-Restricted Progenitors Promote Brain Myelination and Extend the Survival of Dysmyelinated Mice.International journal of molecular sciences · 2024Article
- The integrated stress response pathway and neuromodulator signaling in the brain: lessons learned from dystonia.The Journal of clinical investigation · 2024Review
- Identification of a Missense Variant in the EIF2B3 Gene Causing Vanishing White Matter Disease with Antenatal-Onset but Mild Symptoms and Long-Term Survival.Journal of molecular neuroscience : MN · 2021Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundVanishing white matter disease (VWMD) is one of the most prevalent hereditary white matter diseases in childhood, but it is increasingly recognised in adulthood with high phenotypic variation and severity. CASE PRESENTATION: We report a case of an adult female presenting with emotional lability and cognitive impairment, in addition to progressive dystonia, ataxia, postural instability and recurrent falls. Magnetic resonance imaging (MRI) of the brain and genetic testing confirmed the diagnosis of VWMD.
conclusionsVWMD has a broad clinical presentation in adulthood, and the age at onset of symptoms is one of its most important prognostic factors. It is crucial to recognize the pathognomonic MRI patterns and consider VWMD as a differential diagnosis when assessing patients presenting with psychiatric, cognitive and non-specific neurological symptoms.
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Registered trials
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