This analysis reveals metabolic abnormalities in patients with tuberous sclerosis complex, suggesting links to neurological symptoms and cognitive deficits.
Motivation: There are relatively few prior studies investigating brain metabolites in Tuberous Sclerosis Complex (TSC), mostly using single voxel localization that were limited to a few selected brain areas. Goal(s): To characterize brain metabolite alterations in patients with TSC that may be the underpinning of neurologic and neuropsychological manifestations. Approach: Multi-slice 2D-MRSI was used to estimate metabolites in cortical/subcortical tubers and normal appearing brain regions in TSC patients, and compared to healthy controls (HC). Results: TSC subjects show significant metabolic abnormalities (elevation of mI/tCr, reduced tCho/tCr and tNAA/tCr) compared to HC, both in brain regions with normal MRI appearance as well as in tubers. Impact: These findings may help to understand the underlying pathogenesis of brain involvement in TSC, including their relationships to neurological symptoms and cognitive impairment.
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Senapati et al. (2025) studied this question.
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