Evidence map›Paper›PMID 41521943›Full record

ArticleAnnals of clinical and translational neurology2026

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony-Stimulating Factor-1 Receptor-Related Disorders.

Tomasz Chmiela, Madison Reeves, Karen Jansen-West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton-Jones, Robert C Spitale and 4 more

Abstract read
In one paragraph

Article in Annals of clinical and translational neurology, 2026. 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

14 authors.

Tomasz ChmielaDepartment of Neurology, Mayo Clinic, Jacksonville, Florida, USA.ORCID 0000-0001-6022-7731
Madison ReevesDepartment of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Karen Jansen-WestDepartment of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Judith DunmoreDepartment of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Yuping SongDepartment of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Audrey StrongoskyDepartment of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
Sunil GandhiSavanna Biotherapeutics, Inc., Aliso Viejo, California, USA.
Gilana PikoverSavanna Biotherapeutics, Inc., Aliso Viejo, California, USA.
Matt Blurton-JonesSavanna Biotherapeutics, Inc., Aliso Viejo, California, USA.
Robert C SpitaleSavanna Biotherapeutics, Inc., Aliso Viejo, California, USA.
Erik H MiddlebrooksDepartment of Radiology, Mayo Clinic, Jacksonville, Florida, USA.ORCID 0000-0002-4418-9605
Leonard PetrucelliDepartment of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Mercedes PrudencioDepartment of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic, Jacksonville, Florida, USA.

Funding

Expanding insights into FTD disease mechanismsR35NS097273 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2017 to 2024
$10.6M
Human Biomarkers CoreU54NS123743 · NINDS · STANFORD UNIVERSITY · PI GITLER, AARON D. · 2021 to 2025
$8.2M
Stathmin-2 and TDP-43 neurodegeneration in Alzheimer’s and multi-etiology dementiasR01NS120992 · NINDS · MAYO CLINIC ROCHESTER · PI JOSEPHS, KEITH A, PRUDENCIO, MERCEDES · 2024 to 2025
$1.6M
Medical University of Silesia in Katowice Wiley Open Access Agreement (WOAA)NIH HHS R01NS120992NIH HHS R35NS097273NIH HHS U54NS123743Savanna Biotherapeutics, IncTarget ALS Foundation
6 · The paper itself

Abstract

objectiveThis study aims to identify both fluid and neuroimaging biomarkers for CSF1R-RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.

methodsOur study compared neuroimaging and fluid (plasma and cerebrospinal fluid (CSF)) biomarkers across three distinct populations: asymptomatic CSF1R pathogenic variant carriers (N = 14), symptomatic CSF1R pathogenic variant carriers (N = 17), and healthy controls (N = 30). We evaluated biomarker correlations with both an established (Montreal Cognitive Assessment (MoCA)) and a novel (CSF1R Clinical Severity Score (CCSS)) clinical diagnostic scale to investigate potential clinical utility. Additionally, we tested the relationship between select biomarkers and cortical thickness using 3D T1-weighted MPRAGE scans, providing a highly valuable physiological component to our analyses.

resultsOur results demonstrate that while plasma glial fibrillary acidic protein (GFAP) displays a high sensitivity for distinguishing early-stage CSF1R-RD patients from healthy controls, plasma neurofilament light chain (NfL) is more effective for tracking disease progression following the onset of symptoms.

interpretationOverall, our study provides evidence for plasma NfL and GFAP as valuable biomarkers of earliest symptom onset and disease progression for CSF1R-RD.

Indexed as

Glial Fibrillary Acidic ProteinNeurofilament ProteinsReceptors, Granulocyte-Macrophage Colony-Stimulating FactorAdultBiomarkersDisease ProgressionFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedNeuroimagingReceptor, Macrophage Colony-Stimulating FactorBiomarkersCSF1R protein, humanGFAP protein, humanGlial Fibrillary Acidic Proteinneurofilament protein LNeurofilament ProteinsReceptor, Macrophage Colony-Stimulating FactorReceptors, Granulocyte-Macrophage Colony-Stimulating FactorbiomarkersCSF1R‐RDmicrogliopathy

Identifiers

PMID41521943
PMCPMC13251445

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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.