Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology.

ABSTRACT:

Background

Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen.

Objective

This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ubiquitin C-terminal hydrolase L1(UCH-L1) in FRDA comparing two large independent cohorts of patients with healthy controls.

Methods

Plasma samples of patients from two large natural history studies (n = 187) and a similar sized cohort of healthy control subjects (n = 127) were assessed using single-molecule array measurements. Age-adjusted biomarker levels were related to patients' genetic profile, clinical progression, and comorbid

SUBMITTER: Rummey C 

PROVIDER: S-EPMC12485593 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature