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Abstract #2091

Quantitative T1 measurement of myelin in children with Ras-MAPK pathway disorders

Julia Plank1, Elveda Gozdas1, Jennifer Bruno1, Chloe McGhee1, Hua Wu2, Mira Raman1, Manish Saggar1, and Tamar Green1
1Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, CA, United States, 2Center for Cognitive and Neurobiological Imaging, Stanford University, Stanford, CA, United States

Synopsis

Keywords: Neuro, Genetic Diseases, Pediatric, Brain, Quantitative Imaging

Motivation: Disrupted myelination in the brains of children with RAS-MAPK pathway disorders could represent a novel treatment target. Non-invasive neuroimaging is needed to identify this pathology.

Goal(s): Our goal was to use quantitative T1 mapping to characterize myelination in the brains of children with RAS-MAPK disorders.

Approach: We investigated quantitative indicators of myelin content in 39 white matter tracts and cortical R1 (1/T1) in 360 regions between two groups: children with RAS-MAPK disorders and typical developing (TD).

Results: Results indicated widespread increases in white matter tract myelin in RAS-MAPK disorders relative to TD. There were no significant between-groups differences in cortical regions.

Impact: Our demonstration of distinct patterns of myelination in RAS-MAPK pathway disorders suggests a quantitative neurobiological marker that may be of value for future work investigating brain-behavior associations or novel treatment targets in this population.

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