Article
Ataxia telangiectasia: what the neurologist needs to know.
Practical neurology - 1 Oct 2020
Tiet May Yung, Horvath Rita, Hensiek Anke E
Abstract excerpt
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia-with some preserved ataxia telangiectasia-mutated (ATM) kinase activity-have a milder and often atypical phenotype, which can lead to long delays in diagnosis....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.