ReviewJournal of central nervous system disease2014
Vanishing white matter disease in a spanish population.
Review in Journal of central nervous system disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 27 citations in OpenAlex.
- "Case report": Whole-exome sequencing reveals compound heterozygous variants in theFrontiers in genetics · 2025Article
- Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review.Cureus · 2024Article
- Overview of Neuro-Ophthalmic Findings in Leukodystrophies.Journal of clinical medicine · 2024Article
- Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.Neurology · 2022Article
- Baicalin Promotes CNS Remyelination via PPARγ Signal Pathway.Neurology(R) neuroimmunology & neuroinflammation · 2022Article
- Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India.Journal of pediatric genetics · 2021Article
- Vanishing white matter disease with different faces.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia.BMC neurology · 2019Article
- Article
- Case Report: Cerebral leukodystrophy and the gonadal endocrinopathy: a rare but real association.F1000Research · 2018Article
- Astrocytes are central in the pathomechanisms of vanishing white matter.The Journal of clinical investigation · 2016Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes encoding eukaryotic translation initiation factor (eIF2B). We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children. The first clinical manifestation in all of them was spasticity, with severe ataxia in six patients, hemiparesis in one child, and dystonic movements in another. They suffered from progressive cognitive deterioration and nine of them had epilepsy too. In four children, we observed optic atrophy and three also had progressive macrocephaly, which is not common in VWM disease. The first two cases were diagnosed before the 1980s. Therefore, they were diagnosed by necropsy studies. The last 16 patients were diagnosed according to genetics: we found mutations in the genes eIF2B5 (13 cases), eIF2B3 (2 cases), and eIF2B4 (1 case). In our report, the second mutation in frequency was c.318A>T; patients with this mutation all followed a slow chronic course, both in homozygous and heterozygous states. Previously, there were no other reports to confirm this fact. We also found some mutations not described in previous reports: c.1090C>T in eIF2B4, c.314A>G in eIF2B5, and c.877C>T in eIF2B5.
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