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Neurophysiological assessment of disease severity in Friedreich's Ataxia: a study of brainstem auditory and visual
Simona Maccora1, Umberto Quartetti1, Salvatore Maria Lima1
1Neurophysiopathology Unit, Department of Biomedicine, Neurosciences and Advanced Diagnostics (Bi.N.D.), University of Palermo, Via del Vespro 143, 90127 Palermo, Italy.
Objective:
To evaluate a multimodal assessment including clinical rating scales, brainstem auditory evoked potentials (BAEPs), pattern reversal visual evoked potentials (p-VEPs), and serum biomarkers as candidate measures of disease severity in longstanding Friedreich's ataxia (FRDA).
Methods:
In a prospective, monocentric cohort, we conducted a cross-sectional baseline assessment of 29 genetically confirmed adult FRDA patients. Disease severity was rated with modified Friedreich Ataxia Rating Scale (mFARS). All underwent BAEPs and/or p-VEPs; available serum markers (NfL, NfH, GFAP, IL-6) were assayed. Associations with mFARS were tested using correlations and multiple linear regression adjusted for age and disease duration.
Results:
Neurophysiological abnormalities were frequent (p-VEPs 96.3% [26/27]; BAEPs 85.7% [24/28]). mFARS correlated with BAEP wave III latency (R = 0.70, p < 0.0001) and p-VEP N75 latency (R = 0.56, p = 0.002). A BAEP model predicted mFARS (F(4,13) = 13.70, p = 0.00014; adjusted R2 = 0.75), with disease duration (β = 0.64, p = 0.001) and wave III latency (β = 0.42, p = 0.007) as significant contributors. A p-VEP model also predicted mFARS (F(4,12) = 20.35, p = 0.0003; adjusted R2 = 0.83), with disease duration (β = 0.62, p = 0.001) and N75 latency (β = 0.45, p = 0.005). Patients with abnormal BAEPs had higher mFARS than those with normal BAEPs (U = 35.0, p = 0.03). mFARS differed across BAEP grades (H(4,N = 28) = 10.22, p = 0.04) and p-VEP grades (H(4,N = 27) = 11.39, p = 0.02). Serum biomarkers showed no consistent association with mFARS.
Conclusions:
BAEPs and p-VEPs are highly prevalent and closely associated with clinical severity in chronic FRDA, outperforming tested serum biomarkers.
Significance:
Evoked potentials provide accessible, non-invasive, quantitative candidate biomarkers for severity assessment and longitudinal monitoring in FRDA, supporting their use in clinical practice and trial design when fluid markers are inconclusive.
