[Comment] A potential turn of the tide in ataxia-telangiectasia

Ataxia-telangiectasia (A-T) is an autosomal recessive multisystem disorder. It is caused by variants in the ATM gene, which encodes the ATM protein. This protein is crucial for the cellular response to DNA damage and oxidative stress. The disease manifests with progressive cerebellar ataxia and other neurological features. It typically begins in early childhood. It is accompanied by immunodeficiency, cancer predisposition, and other systemic complications. These complications lead to substantial morbidity and a reduced lifespan. Despite advances in understanding its pathophysiology, therapeutic options largely remain supportive.