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Article

Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.

Journal of the neurological sciences - 15 Dec 2013

Davis Marie Y, Keene C Dirk, Swanson Phillip D, Sheehy Conor, Bird Thomas D

Abstract excerpt

Ataxia telangiectasia (AT) and ataxia oculomotor apraxia type 2 (AOA2) are autosomal recessive ataxias caused by mutations in genes involved in maintaining DNA integrity. Lifespan in AT is greatly shortened (20s-30s) due to increased susceptibility to malignancies (leukemia/lymphoma). Lifespan in AOA2 is uncertain. We describe a woman with variant AT with two novel mutations in ATM (IVS14+2T>G and 5825C>T,...

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Identifiers

PMID: 24090759
DOI: 10.1016/j.jns.2013.09.014
PMCID: PMC4017341

Genes

ATM

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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