Open Access
01-02-2025 | Biomarkers | Neurological Update
Biomarkers in Ataxia-Telangiectasia: a Systematic Review
Authors:
M. Y. Tiet, B.-I. Guțu, P. Springall-Jeggo, D. Coman, M. Willemsen, N. Van Os, M. Doria, H. Donath, R. Schubert, R. A. Dineen, S. Biagiotti, A. P. Prayle, A. T. Biomarker Working Group, A. E. Hensiek, R. Horvath
Published in:
Journal of Neurology
|
Issue 2/2025
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Abstract
Ataxia-Telangiectasia (A-T) is a very rare multisystem disease of DNA repair, associated with progressive disabling neurological symptoms, respiratory failure, immunodeficiency and cancer predisposition, leading to premature death. There are no curative treatments available for A-T but clinical trials have begun. A major limiting factor in effectively evaluating therapies for A-T is the lack of suitable outcome measures and biomarkers. We have performed a systematic review to collect the information currently available on biomarkers for A-T both in patients and preclinical studies. We have identified 56 reports discussing potential A-T biomarkers in both pre-clinical models and patients. These studies report on diagnostic biomarkers but prognostic biomarkers and responsive markers of clinical status are currently lacking. Some biomarkers of neurodegeneration in A-T show promise, including non-invasive neuroimaging biomarkers. Some biomarkers of oxidative stress and responsive markers to radiotherapy and steroid treatment have potential value in clinical trials. The formation of the A-T biomarker working group with international experts is an important step forward to facilitate the sharing of materials, data and expertise with the common goal of finding effective biomarkers for A-T.