Evidence map›Paper›PMID 40316128›Full record

ArticleBiological psychiatry2025

Quantitative T1 Mapping Indicates Elevated White Matter Myelin in Children With RASopathies.

Julia R Plank, Elveda Gozdas, Jennifer Bruno, Chloe A McGhee, Hua Wu, Mira M Raman, Manish Saggar, Tamar Green

Abstract read
In one paragraph

Article in Biological psychiatry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Julia R PlankDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Palo Alto, California. Electronic address: juliapl@stanford.edu.
Elveda GozdasDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Palo Alto, California.
Jennifer BrunoDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Palo Alto, California.
Chloe A McGheeDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Palo Alto, California.
Hua WuCenter for Cognitive and Neurobiological Imaging, Stanford University, Stanford, California.
Mira M RamanDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Palo Alto, California.
Manish SaggarDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Palo Alto, California.
Tamar GreenDivision of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Palo Alto, California.

Funding

Gaining insights: the effects of the RMK gain-of-function mutations on brain development and neurodevelopmental disordersR01HD108684 · NICHD · STANFORD UNIVERSITY · PI Tamar Green · 2022 to 2026
$3.0M
Ras/MAPK Mutations Effects on the Developing BrainK23HD090209 · NICHD · STANFORD UNIVERSITY · PI GREEN, TAMAR · 2018 to 2022
$837k
Toward a neuroscientific understanding of the interaction between Down syndrome and Alzheimer's disease pathologyK01AG083224 · NIA · STANFORD UNIVERSITY · PI JENNIFER L BRUNO · 2023 to 2026
$503k
Predicting long-term outcomes in preterm infants using multimodal neuroimaging techniques and environmental factorsR00HD109507 · NICHD · STANFORD UNIVERSITY · PI Elveda Gozdas · 2025 to 2026
$498k
NIA NIH HHS K01 AG083224NICHD NIH HHS K23 HD090209NICHD NIH HHS R00 HD109507NICHD NIH HHS R01 HD108684
6 · The paper itself

Abstract

backgroundEvidence suggests a pathological role of myelination in neurodevelopmental disorders with links to cognitive difficulties, but in vivo assessment remains challenging. Quantitative T1 mapping (QT1) has been used in previous clinical studies (e.g., of multiple sclerosis) and shows promise for reliable measurement of myelin alterations. We investigated QT1 for measuring myelination in children with neurodevelopmental disorders of the Ras/mitogen-activated protein kinase (RAS-MAPK) signaling pathway (RASopathies).

methodsWe collected QT1, diffusion-weighted, and structural magnetic resonance imaging scans from 72 children (49 with RASopathies, 23 typically developing [TD]). QT1 myelin content measures included white matter macromolecular tissue volume (MTV) and cortical R1 (1/T1 relaxation). Group differences were assessed across 39 white matter tracts. Principal component analysis captured cortical myelination patterns across 360 regions, followed by a multivariate analysis of variance (MANOVA). A support vector machine (SVM) identified the most discriminative features between groups.

resultsOf 39 tracts, 34 were higher in MTV in children with RASopathies relative to TD children (false discovery rate-corrected p < .05), indicating widespread elevation in myelination. MANOVA revealed a group effect on cortical R1 (p = .002, η

conclusionsWe found widespread elevated white matter tract myelin and region-dependent cortical myelination patterns in children with RASopathies. Leveraging preclinical models that have shown oligodendrocyte dysfunction, QT1 revealed precocious myelination. Further work is needed to explore relationships with cognition. QT1 is a promising tool for identification and monitoring of myelin as a treatment target in neurodevelopmental disorders, offering significant potential for advancing current therapeutic strategies.

Indexed as

Myelin SheathNephrotic SyndromeWhite MatterAdolescentChildCostello SyndromeEctodermal DysplasiaFaciesFailure to ThriveFemaleHeart Defects, CongenitalHumansMagnetic Resonance ImagingMaleMAP Kinase Signaling SystemNoonan Syndromeras ProteinsMagnetic resonance imagingMyelinNeurofibromatosis type 1Noonan syndromeQuantitative T1 mappingRASopathies

Identifiers

PMID40316128
PMCPMC12320566

What Socratic 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 Socratic graph.