Evidence map›Paper›PMID 41191119›Full record

ArticleNeurogenetics2025

CADASIL-like cerebral vasculopathy in a patient with a heterozygous MYBPC3 likely pathogenic splice site variant.

Ehab Harahsheh, Bukola A Olarewaju, Deanna M Weaver, Nicole J Boczek, Aimen Vanood, Timothy J Ingall, Mayowa A Osundiji

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In one paragraph

Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Ehab HarahshehDepartment of Neurology, Mayo Clinic, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA.
Bukola A OlarewajuSchool of Science and Engineering, University of Dundee, Nethergate, Dundee, DD1 4HN, UK.
Deanna M WeaverDepartment of Clinical Genomics, Mayo Clinic, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA.
Nicole J BoczekDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Aimen VanoodDepartment of Neurology, Mayo Clinic, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA.
Timothy J IngallDepartment of Neurology, Mayo Clinic, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA.
Mayowa A OsundijiDepartment of Clinical Genomics, Mayo Clinic, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA. osundiji.mayowa@mayo.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

MYBPC3 (Myosin-binding site protein C3) alterations are associated with hypertrophic cardiomyopathy (HCM). However, the neuroimaging features of these patients are not well-described in the literature. We present a unique case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)-like neuroimaging features in a middle-aged female, who harbors a heterozygous likely pathogenic splice site variant [c.26-2 A > G] in MYBPC3 [NM_000256.3]. The patient had negative genetic and electron microscopy test results for CADASIL. Our observations suggest that CADASIL-like cerebral vasculopathy may occur in MYBPC3-related disorders, thus highlighting the need for further characterization of neuroimaging features of patients with MYBPC3-related disorders.

Indexed as

CADASILCarrier ProteinsFemaleHeterozygoteHumansMiddle AgedMutationMyosin Binding Protein CRNA Splice SitesCarrier ProteinsMyosin Binding Protein CRNA Splice SitesCADASILCerebralMYBPC3NeuroimagingSmall vesselVasculopathy

Identifiers

PMID41191119

What OpenQuestion holds

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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.