CSF Biomarkers Characterized in Patients With Fragile X-Associated Tremor/Ataxia Syndrome

cerebrospinal fluid csf
cerebrospinal fluid csf
Researchers shared their findings on the cerebrospinal fluid profile of patients with fragile X-associated tremor/ataxia syndrome and potential biomarkers.

The following article is part of conference coverage from the International Congress of Parkinson’s Disease and Movement Disorders (MDS) Virtual Annual Meeting. Neurology Advisor’s staff will be reporting breaking news associated with research conducted by leading experts in neurology. Check back for the latest news from the MDS 2021 Virtual Annual Meeting.


Among patients with fragile X-associated tremor/ataxia syndrome (FXTAS), a progressive neurodegenerative disorder caused by a variation on the X chromosome, many proteins in the cerebrospinal fluid (CSF) may be altered and used in the development of potential biomarkers, according to study results presented at the International Congress of Parkinson’s Disease and Movement Disorders (MDS) Virtual Congress 2021, held from September 17 to 22, 2021.

The biological mechanism of FXTAS is not well understood, making the identification of biomarkers important.

The objective of the current study was to assess 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 age-matched control participants.

Among patients with FXTAS, a total of 415 proteins were identified, including 97 altered proteins. 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 have 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 transportation and metabolism, were 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 proteins differentially detected in the CSF of FXTAS participants have also been associated with other neurodegenerative disorders. Additionally, alterations of expression in apolipoproteins suggest that lipid changes along the disease course should be a future area of focus,” the researchers concluded.


Abbasi D, Nguyen TT, Robertson-Dick E, et al. Characterization of the cerebrospinal fluid proteome in patients with fragile X-associated tremor/ataxia syndrome. Presented at: MDS Virtual Congress 2021; September 17-22, 2021. Poster 20.