Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis.

Abstract

Ataxia-telangiectasia is a syndrome with many facets, involving a progressive cerebellar ataxia, immunodeficiency, cancer susceptibility, radiosensitivity, defects in DNA repair/processing, chromosomal breakage and rearrangements, elevated serum alphafetoprotein, and premature aging. Ataxia-telangiectasia is an autosomal recessive disorder, rare in outbred populations; carriers of the ataxia-telangiectasia gene may be as common as 1 in 60 and have subclinical radiosensitivity and cancer susceptibility. One estimate suggests that 8.8% of patients with breast cancer could be carriers of ataxia-telangiectasia. These carriers may be responsible for underestimating normal tolerance doses for radiation therapy by 15% to 20%; thus by preselecting and excluding carriers of ataxia-telangiectasia from cohorts of patients with cancer, conventional radiation doses might be increased so as to improve greatly the efficacy of radiotherapy. The genes for the 3 most common ataxia-telangiectasia complementation groups, which include 97% of tested families, have recently been localized to the long arm of chromosome 11.

• Authors: R A Gatti, E Boder, H V Vinters, R S Sparkes, A Norman, K Lange
• Journal: Medicine (Medicine (Baltimore)) Vol. 70 Issue 2 Pg. 99-117 (Mar 1991) ISSN: 0025-7974 [Print] United States
• PMID: 2005780 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, Non-P.H.S., Research Support, U.S. Gov't, P.H.S., Review)

Topics

• Ataxia Telangiectasia (diagnosis, genetics, pathology)
• Brain (pathology)
• Chromosome Mapping
• Genetic Linkage
• Humans
• Radiation Tolerance