312P Genotype and corticosteroid treatment are associated with distinctive variations in gray matter characteristics among patients with Duchenne muscular dystrophy

• Published in: Neuromuscular disorders : NMD 2024-10, Vol.43, p.104441, Article 104441.507
• Main Authors: Geuens, S., Van Dessel, J., Kan, H., Govaarts, R., Niks, E., Goemans, N., Lemiere, J., Doorenweerd, N., De Waele, L.
• Format: Article
• Language: English
• ISSN: 0960-8966
• DOI: 10.1016/j.nmd.2024.07.516

Global gray matter volume reductions in Duchenne muscular dystrophy (DMD) are linked to absence of brain dystrophin isoform Dp140. However, corticosteroid treatment may be a confounding variable. This study aims to explore whether structural variations in specific gray matter areas are associated with genotype or corticosteroid treatment in DMD patients, and whether these variations correlate with neurobehavioral outcomes. A cross-sectional study was conducted involving 40 DMD patients (aged 9-18 years) and 40 age-matched controls. Detailed MRI segmentations were performed using the CAT12 toolbox in SPM to assess subcortical structures, cortical thickness, gyrification, and sulci depths. Comparisons were made between DMD vs. controls, Dp140+ vs. Dp140- gene mutations (n = 15 vs. 25) and daily vs. intermittent corticosteroid treatment groups (n = 20 each). MANCOVA, CAT12 3D statistics, and Pearson correlations were conducted. DMD patients exhibited significant differences in volumes of distinct subcortical structures, left hemisphere cortical thickness, and gyrification across multiple brain regions compared to controls. Differences in subcortical volumes and patterns of cortical thickness, sulci depth, and gyrification were observed between corticosteroid regimens. DMD patients with Dp140+ mutations displayed altered gyrification and sulci depth compared to those with Dp140- mutations. Significant correlations were found between neurobehavioral outcomes and brain areas showing significant differences in cortical morphology associated with corticosteroid treatment and genotype. Our findings indicate distinctive alterations in various aspects of the gray matter in DMD. Within the DMD population, both genotype and corticosteroid treatment are associated with variations in subcortical volumes and cortical morphology, albeit in different ways. Corticosteroid treatment appears to have a more profound association with differences in gray matter characteristics of brain regions associated with functional outcomes.