Article

Myelin pathology in ataxia-telangiectasia is the cell autonomous effect of ATM deficiency in oligodendrocytes

2021-01-26

Abstract excerpt

<h4>ABSTRACT</h4> Ataxia-telangiectasia (A-T) is a rare genetic disease caused by mutations in the gene encoding the ATM (ataxia-telangiectasia mutated) protein. Although neuronal degeneration in the cerebellum remains the most prominent sign in A-T pathology, neuroimaging studies reveal myelin abnormalities as early comorbidities. We hypothesize that these myelin defects are the direct consequence of ATM deficie...

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Literature Corpus work: 6e8bf1ba-d18b-5976-8016-afa05d7ff6ab
DOI: 10.1101/2021.01.22.20245217

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