Evidence map›Paper›PMID 41245872›Full record

ArticleFrontiers in neurology2025

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.

Justin Simo, Heather M Lugar, Elka Miller, Adi Wilf-Yarkoni, Yael Goldberg, Ayça Kocaağa, Shoichi Ito, Sirio Cocozza, Giulio Frontino, Cristina Baldoli and 6 more

Abstract read
In one paragraph

Article in Frontiers in neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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

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

16 authors.

Justin SimoThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.
Heather M LugarDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States.
Elka MillerDepartment of Diagnostic Imaging, The Hospital for Sick Children (SickKids), University of Toronto, Toronto, ON, Canada.
Adi Wilf-YarkoniNeuroimmunology Unit, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
Yael GoldbergFaculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ayça KocaağaDepartment of Medical Genetics, Eskisehir City Hospital, Eskişehir, Türkiye.
Shoichi ItoDepartment of Medical Education, Graduate School of Medicine, Chiba University, Chiba, Japan.
Sirio CocozzaDepartment of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.
Giulio FrontinoDepartment of Pediatrics, Diabetes Research Institute, IRCCS San Raffaele Hospital, Milan, Italy.
Cristina BaldoliNeuroradiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Aziz BenbachirThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.
Catherine AshtonThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.
Guy A RouleauThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.
Tamara HersheyDepartment of Psychiatry, Washington University School of Medicine, St. Louis, MO, United States.
Yann NadjarDepartment of Neurology, Pitié-Salpêtrière University Hospital, Paris, France.
Roberta La PianaThe Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and objectives: Wolfram syndrome (WFS) is a genetic disorder mainly caused by pathogenic variants in the Methods: We conducted an international multicenter retrospective study of the clinical, genetic, and radiological data from 17 unrelated WFS subjects. Results: Seven subjects (7/17; 41%) showed at least one focal white matter lesion evocative of MS. Among these seven, three fulfilled the McDonald radiological criteria of dissemination in space and time, suggesting an inflammatory demyelinating process. All subjects reviewed in the study had at least one of the classical WFS MRI features. Conclusion: Our report expands the WFS spectrum of white matter involvement to include progressive, seemingly inflammatory demyelinating lesions. While we cannot exclude the possibility of a WFS-MS dual diagnosis in some cases, the role of

Indexed as

genetic mimickers of MSmultiple sclerosisrare diseaseswhite matter (WM)Wolfram (DIDMOAD) syndrome

Identifiers

PMID41245872
PMCPMC12616738

What Socratic holds

Textmetadata
LicenceCC BY
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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.