Evidence map›Paper›PMID 40900972›Full record

ArticleNeurology. Genetics2025

Vanishing White Matter Disease With

Toshiyuki Kakumoto, Takashi Matsukawa, Ryo Tokimura, Yoko Tsuboyama, Yasufumi Hayashi, Akihiko Mitsutake, Atsushi Iwata, Meiko Hashimoto Maeda, Jun Shimizu, Wataru Gonoi and 4 more

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

14 authors.

Toshiyuki KakumotoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-1147-9454
Takashi MatsukawaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-5925-9450
Ryo TokimuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0001-9867-6495
Yoko TsuboyamaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0001-9173-3012
Yasufumi HayashiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0009-0004-0378-4928
Akihiko MitsutakeDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-9165-0193
Atsushi IwataDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0001-7308-5314
Meiko Hashimoto MaedaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-3725-3488
Jun ShimizuDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-9828-6494
Wataru GonoiDepartment of Radiology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-5018-4683
Hiroyuki IshiuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0003-2975-7309
Jun MitsuiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0001-7425-4765
Shoji TsujiDepartment of Molecular Neurology, Graduate School of Medicine, The University of Tokyo; and.ORCID https://orcid.org/0000-0001-5602-5686
Tatsushi TodaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.ORCID https://orcid.org/0000-0002-0717-1123

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Typical MRI findings of vanishing white matter disease (VWM) include diffuse white matter lesions with cystic degeneration. However, mild cases may lack these typical features, posing diagnostic challenges. Methods: We describe 2 of 3 individuals carrying the homozygous c.254T >A variant in Results: A 69-year-old woman presented with recurrent transient dizziness and secondary amenorrhea. MRI of the brain revealed small T2-hyperintense lesions confined to the subcortical white matter with hyperintensities on diffusion-weighted images and mildly elevated apparent diffusion coefficient values. A 28-year-old woman presented with transient dizziness and secondary amenorrhea. MRI of the brain showed mild T2-hyperintense lesions in the cerebral white matter with frontal predominance. Discussion: This report highlights the clinically mild cases of VWM with subtle abnormalities on brain MRI who had the homozygous c.254T >A in

Identifiers

PMID40900972
PMCPMC12401550

What OpenQuestion holds

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Registered trials

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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.