Characterized CSF biomarkers in patients with fragile X-associated tremor / ataxia syndrome

The following article is part of the conference coverage of the virtual annual meeting of the International Congress on Parkinson’s and Movement Disorders (MDS). Neurology Advisor staff will share the latest news related to research from leading neurology experts. Look back for the latest news from the MDS 2021 Annual Virtual Meeting.

In patients with Fragile X-Associated Tremor / Ataxia Syndrome (FXTAS), a progressive neurodegenerative disease caused by a variation in the X chromosome, many proteins in the cerebrospinal fluid (CSF) can be altered and used for the development of potential biomarkers will be used for the study results presented at the 2021 virtual congress of the International Congress on Parkinson’s and Movement Disorders (MDS), which took place September 17-22, 2021.

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The biological mechanism of FXTAS is not well understood, which makes biomarker identification important.

The aim of the current study was to evaluate the CSF profile in patients with FXTAS and to identify potential biomarkers.

The study sample included CSF samples from 10 patients with FXTAS from the Rush FXTAS Clinic, along with 6 control participants of the same age.

A total of 415 proteins were identified in patients with FXTAS, including 97 altered proteins. Signaling pathways altered in patients with FXTAS included acute phase response signaling, liver X receptor / retinoid X receptor (LXR / RXR), and farnesoid X receptor (FXR) / RXR activation. Researchers also noted changes in proteins that were previously found to play important roles in other movement disorders, including amyloid-like protein 2, contactin-1, afamin, cell adhesion molecule 4, NPC intracellular cholesterol transporter 2, and cathepsin B.

Apolipoproteins, molecules involved in lipid transport and metabolism, have been found to be altered in patients with FXTAS, including APOA1 (P <.0001), APOA2 (P = .0008), APOA4 (P <.0001), APOC2 (P =. 0056), APOC3 (P <.0001) and APOD (P <.0001).

“The different proteins detected in the CSF of FXTAS participants have also been linked to other neurodegenerative diseases. In addition, changes in expression in apolipoproteins suggest that lipid changes along the course of the disease should be a future focus, ”the researchers concluded.


Abbasi D, Nguyen TT, Robertson-Dick E, et al. Characterization of the CSF proteome in patients with fragile X-associated tremor / ataxia syndrome. Presented at: MDS Virtual Congress 2021; 17.-22. September 2021.

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