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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.
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Metadata
Title
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
Publication date
01-02-2025
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 2/2025
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-024-12766-7

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