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.
Thursday, May 14, 2026
Neurophysiological assessment of disease severity in Friedreich’s Ataxia: a study of brainstem auditory and visual evoked potentials
Simona Maccora, Umberto Quartetti, Salvatore Maria Lima, Nicasio Rini, Marco Cucchiara, Luisa Agnello, Caterina Maria Gambino, Filippo Brighina, Marcello Ciaccio, Vincenzo Di Stefano, Neurophysiological assessment of disease severity in Friedreich’s Ataxia: a study of brainstem auditory and visual evoked potentials, Clinical Neurophysiology, 2026, 2111933, ISSN 1388-2457, doi:10.1016/j.clinph.2026.2111933.
Experimental gene therapy raises hope for children with fatal neurological disease
Brunel University of London. By Press Officen14 May 2026.
Scientists at Brunel University of London and University College London Great Ormond Street Institute of Child Health have developed an experimental stem cell treatment for Friedreich’s ataxia.
The findings suggest the technique could eventually be delivered using a patient’s own cells, reducing the risk of the body rejecting the therapy after transplantation.The researchers removed blood-forming stem cells and modified them in the laboratory using a virus to deliver an engineered frataxin protein. This new engineered version of frataxin can be secreted by blood cells and absorbed by other tissues, allowing it to reach vital organs such as the brain, heart and muscles.
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