Relationship Between Dp140 Genotype and Cortical Similarity Network Phenotype in Duchenne Muscular Dystrophy: Preliminary T1 Weighted Study

BACKGROUND: Dp140-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: < 0.05 were considered significant. DATA CONCLUSION: By 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.