ArticleJournal of magnetic resonance imaging : JMRI2026
Relationship Between Dp140 Genotype and Cortical Similarity Network Phenotype in Duchenne Muscular Dystrophy: Preliminary T1 Weighted Study.
Article in Journal of magnetic resonance imaging : JMRI, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Editorial for "Relationship Between Dp140 Genotype and Cortical Similarity Network Phenotype in Duchenne Muscular Dystrophy: Preliminary T1 Weighted Study".Journal of magnetic resonance imaging : JMRI · 2026Article
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Authors and funding
18 authors.
Funding
Abstract
backgroundDp140-related mutations associate with neurodevelopmental impairments in Duchenne muscular dystrophy (DMD), their effects on cortical similarity network organization remain unclear. PURPOSE: To characterize alterations in morphometric similarity networks (MSN) in DMD with different Dp140 genotypes, assess their associations with clinical phenotypes and gene expression. STUDY TYPE: Prospective. POPULATION: One hundred and fifteen boys with DMD (75 Dp140-: 9.63 ± 2.25 years; 40 Dp140+: 10.99 ± 2.25 years) and 69 healthy controls (all male, 10.65 ± 2.43 years). FIELD STRENGTH/SEQUENCE: Gradient echo at 3 T. ASSESSMENT: MRI were processed using FreeSurfer and GRETNA. Behavior data were based on Wechsler Intelligence Scale for children-Fourth edition while transcriptional profiles were from the Allen Human Brain Atlas. STATISTICAL TESTS: Independent T-tests, chi-square tests, general linear models, permutation testing, multivariable linear regression, mediation analyses, partial least squares regression, spatial permutation tests (Spin test), Gene Ontology enrichment analysis and cell-type analysis. FDR-corrected p < 0.05 and p
resultsDp140- subgroup had lower working memory index (WMI) than Dp140+ DMD (81.63 ± 15.48 vs. 90.78 ± 15.31; p = 0.01, Cohen's d = 0.179). Dp140- DMD showed reduced cortical similarity in bilateral lateral prefrontal cortex and parietal cortex regions, increased modular segregation (Hedge's g = -0.298, 95% CI [-0.408, -0.187]), and more hubs loss within frontal parietal network (FPN). The indirect effect of Dp140 genotype on WMI through mean FPN cortical similarity was significant (β = -0.121, p = 0.03, 95% CI [-0.282, -0.001]). The Dp140-specific MSN changes were spatially associated with transcriptional profile, which are enriched in neuronal projection development pathways of excitatory neurons (p DATA
conclusionBy linking genotype, neuroimaging, and transcriptional data, these findings offer further insight into mechanisms possibly involved in working memory deficits among Dp140- DMD. EVIDENCE LEVEL: 2. TECHNICAL EFFICACY: Stage 2.
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