Article

A novel biomarker for Ataxia-Telangiectasia: Evaluating the lack of hypointensity of the dentate nuclei

2023-04-26

Abstract excerpt

<title>Abstract</title><p>Ataxia-Telangiectasia (A-T) is a very rare autosomal recessive disease characterised by cerebellar ataxia, extrapyramidal movements and cancer predisposition. Delayed diagnosis is common due to clinical heterogeneity. The development of clinical trials in A-T is limited by a lack of suitable biomarkers. Abnormal hypointensity of the dentate nuclei (DN) has been demonstrated in some geneti...

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Literature Corpus work: 982cb6b3-f2b9-5a3a-a45b-d21aaf5d1fe2
DOI: 10.21203/rs.3.rs-2842224/v1

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