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J Neurol Sci. 2013 Dec 15;335(1-2):134-8. doi: 10.1016/j.jns.2013.09.014. Epub 2013 Sep 17.

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

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  • 1Department of Neurology, University of Washington, Seattle, WA, United States.


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, p.A1942V) who died at age 48 with pancreatic adenocarcinoma. Her mutations are associated with an unusually long life for AT and with a cancer rarely associated with that disease. We also describe two siblings with AOA2, heterozygous for two novel mutations in senataxin (3 bp deletion c.343-345 and 1398T>G, p.I466M) who have survived into their 70s, allowing us to characterize the longitudinal course of AOA2. In contrast to AT, we show that persons with AOA2 can experience a prolonged lifespan with considerable motor disability.

Published by Elsevier B.V.


AOA2; AT; ATM; Ataxia; Ataxia oculomotor apraxia type 2; Ataxia telangiectasia; SETX; Senataxin

[PubMed - indexed for MEDLINE]
[Available on 2014/12/15]
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