Summary of Study ST002825

This data is available at the NIH Common Fund's National Metabolomics Data Repository (NMDR) website, the Metabolomics Workbench,, where it has been assigned Project ID PR001767. The data can be accessed directly via it's Project DOI: 10.21228/M89H98 This work is supported by NIH grant, U2C- DK119886.


This study contains a large results data set and is not available in the mwTab file. It is only available for download via FTP as data file(s) here.

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Study IDST002825
Study TitleBrain Metabolomics in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
Study SummaryThe course of pathophysiological mechanisms involved in fragile X-associated tremor/ataxia syndrome (FXTAS) remains largely unknown. Previous proteomics and metabolomics studies conducted in blood samples collected from FMR1 premutation carriers with FXTAS reported abnormalities in energy metabolism, and precursors of gluconeogenesis showed significant changes in plasma expression levels in FMR1 premutation carriers who developed FXTAS. We conducted an analysis of postmortem human brain tissues from 44 donors, 25 brains with FXTAS, and 19 matched controls. We quantified the metabolite relative abundance in the inferior temporal gyrus and the cerebellum using untargeted mass spectrometry (MS)-based metabolomics. We investigated how the metabolite type and abundance relate to the number of cytosine-guanine-guanine (CGG) repeats, to markers of neurodegeneration, and to the symptoms of FXTAS.
University of California, Davis
Last NameMartínez-Cerdeño
First NameVerónica
Address2425 Stockton Blvd, 6th Floor, Sacramento, CA 95817
Submit Date2023-08-22
Raw Data AvailableYes
Raw Data File Type(s)cdf
Analysis Type DetailGC-MS
Release Date2023-09-19
Release Version1
Verónica Martínez-Cerdeño Verónica Martínez-Cerdeño application/zip

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Treatment ID:TR002943
Treatment Summary:NA