Maria Jimena Salcedo-Arellano, MD
Metabolic Profile in the Brain With Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Affiliation: University of California- Davis, MIND Institute
Project Summary: We analyzed changes in concentration of primary metabolites, with emphasis in glucose and the gluconeogenesis pathway precursors, activators, and inhibitors, in the brain with FXTAS. We also investigated how these changes relate to the levels of fragile X mental retardation protein, to the number of CGG repeats, and to the presence of the APOE ε4 allele.