Evidence map›Paper›PMID 41232062›Full record

ReviewNeurology2025

Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.

Romy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, Adeline Vanderver, Ingeborg Krägeloh-Mann, Geneviève Bernard, Enrico Bertini, Ali Fatemi, Paulo V Sgobbi, Nicole I Wolf and 28 more

Abstract readReviewConsensus Statement
In one paragraph

Review in Neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

38 authors.

Romy J van VoorstDepartment of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.
Daphne H SchoenmakersDepartment of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.ORCID 0000-0003-1601-7379
Joshua L BonkowskyDepartment of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City.ORCID 0000-0001-8775-147X
Adeline VanderverDivision of Neurology, Children's Hospital of Philadelphia, PA.ORCID 0000-0002-6290-6751
Ingeborg Krägeloh-MannDepartment of Developmental and Child Neurology, Social Pediatrics, University Children's Hospital Tübingen, Germany.ORCID 0000-0003-4599-1373
Geneviève BernardDepartments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-9634-2966
Enrico BertiniResearch Unit of Neuromuscular and Neurodegenerative Diseases, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.ORCID 0000-0001-9276-4590
Ali FatemiKennedy Krieger Institute, Johns Hopkins University, Baltimore, MD.ORCID 0000-0003-4116-6990
Paulo V SgobbiPSEG Centro de Pesquisa Clínica, São Paulo, Brazil.ORCID 0000-0002-7416-7108
Nicole I WolfDepartment of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.ORCID 0000-0003-1721-0728
Samuel GroeschelDepartment of Developmental and Child Neurology, Social Pediatrics, University Children's Hospital Tübingen, Germany.ORCID 0000-0002-2706-7163
Davide TondutiCOALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.ORCID 0000-0001-9371-7454
Caroline SevinReference Center for Leukodystrophies, Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France.ORCID 0000-0002-5856-068X
Jennifer L Orthmann-MurphyDepartment of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-2909-1722
Ludger SchölsDepartment of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany.ORCID 0000-0001-7774-5025
Ettore SalsanoUnit of Rare Neurological Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID 0000-0001-9167-1878
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.ORCID 0000-0003-1394-3561
Nicole JaffeDivision of General Pediatrics, Children's Hospital of Philadelphia, PA.
Kasper W Ter HorstDepartment of Endocrinology and Metabolism, Amsterdam University Medical Center, The Netherlands.
Sabine E HannemaDepartment of Pediatric Endocrinology, Amsterdam UMC location Vrije Universiteit, The Netherlands.
Katherine G HayesPrimary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT.
Jochen MeyburgDepartment of Pediatrics and Adolescent Medicine, RKH Klinikum Ludwigsburg, Germany.
Marc van HeerdeDepartment of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.
Anne Marie SbrocchiDivision of Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.ORCID 0009-0005-3682-8293
Rosalina van SpaendonkDepartment of Human Genetics, Amsterdam University Medical Center, The Netherlands.ORCID 0000-0002-6077-8725
Isabelle ThiffaultDepartment of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.
Geesje H HofsteengeDepartment of Nutrition and Dietetics, Internal Medicine, Amsterdam University Medical Center, The Netherlands.
Carolina Sudmeier-BroekDepartment of Nutrition and Dietetics, Internal Medicine, Amsterdam University Medical Center, The Netherlands.
Corrie TimmerDepartment of Endocrinology and Metabolism, Amsterdam University Medical Center, The Netherlands.
Donna SkwirutUnited Leukodystrophy Foundation, DeKalb, IL.
Allyson BuckVWM Families Foundation, Greenwhich, CT.
Bret HollbergVWM Families Foundation, Greenwhich, CT.
Ron ChapleauUnited Leukodystrophy Foundation, DeKalb, IL.ORCID 0009-0002-3231-4197
Hanka DekkerVereniging Volwassenen, Kinderen en Stofwisselingsziekten, Zwolle, The Netherlands.ORCID 0009-0009-4284-9129
Susan G CampbellBiomolecular Sciences Research Centre, School of Biosciences and Chemistry, Faculty of Health, Wellbeing and Life Sciences, Sheffield Hallam University, Sheffield, United Kingdom.
Truus E M AbbinkDepartment of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.
Prisca S LeferinkIXA Neuroscience, Amsterdam Neuroscience, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.
Marjo S van der KnaapDepartment of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.ORCID 0000-0001-8912-0954

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3M
NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

Vanishing white matter (VWM) is a rare disorder, characterized by degeneration of CNS white matter, clinically often exacerbated by stressors such as fever and minor head trauma. VWM is caused by biallelic pathogenic variants in the

Indexed as

LeukoencephalopathiesDelphi TechniqueDisease ManagementEukaryotic Initiation Factor-2BHumansMagnetic Resonance ImagingWhite MatterEukaryotic Initiation Factor-2B

Identifiers

PMID41232062
PMCPMC12615013

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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 Socratic graph.