Quantitative T1 mapping indicates elevated white matter myelin in children with RASopathies.

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

Ngôn ngữ: eng

Ký hiệu phân loại: 575.66 *Female reproductive organs

Thông tin xuất bản: United States : medRxiv : the preprint server for health sciences , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 683539

BACKGROUND: Evidence suggests pathological roles of myelination in neurodevelopmental disorders, but our understanding is limited. We investigated quantitative T1 mapping (QT1) as a clinically feasible tool for measuring myelination in children with neurodevelopmental disorders of the RAS-MAPK signaling pathway (RASopathies). METHODS: We collected QT1, diffusion-weighted, and structural MRI scans from 72 children (49 RASopathies, 23 typical developing (TD)). QT1 measures of myelin content included the macromolecular tissue volume (MTV) in white matter and R1 (1/T1 relaxation) of the cortex. For white matter, we assessed between-groups differences across 39 tracts. For cortical R1, we used principal components analysis to reduce dimensionality and capture myelination patterns across 360 regions. A multivariate ANOVA assessed differences across principal components. Finally, a support vector machine (SVM) identified the most discriminative features between TD and RASopathies. RESULTS: Thirty-four of 39 tracts were higher in MTV in RASopathies relative to TD ( CONCLUSIONS: We found widespread elevated myelin in white matter tracts and region-dependent patterns of cortical myelination in children with RASopathies. QT1 enabled us to leverage preclinical models showing oligodendrocyte dysfunction to uncover the myelination pattern
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