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Ataxia-Telangiectasia

Ataxia-telangiectasia is also called Boder-Sedgwick syndrome or Louis-Bar syndrome, and is caused by a single mutated recessive gene. It's a rare immunodeficiency disorder, marked by telangiectasias, or small red spidery veins on the surfaces of ears, cheeks, and eye corners, and by ataxia, or a severe difficulty walking. As a child, the sufferer from ataxia-telangiectasia is wobbly when walking; in teens, generally wheelchair bound, and the patient generally dies in the early twenties. Intelligence is generally normal; the disease does not affect that part of the brain.

The deadly aspects of atazia-telangiectasia involve the way it leaves its victims susceptible to ionizing radiation and disease; they are also hypersensitive to sunlight (often tanning in patches) and suffer premature aging including early graying of hair. The weakened immune system and repeated illness literally wear the body out.

More interesting to medical researchers is the predisposition of ataxia-telangiectasia victims to cancer. They have about a 38% chance of contracting cancer, with an 85% likelihood that it will be leukemia. Scientists hope that this predisposition will eventually lead to a cure or treatments for cancer. Other scientists study its links with neurological disease, immunodeficiency, and aging. It is thought that the damaged gene that causes the disease plays a role in DNA damage recognition; the body becomes unable to see cells that should be eliminated, and simply allows them to reproduce.

Web Resources On Ataxia-Telangiectasia

Gene Reviews: Ataxia-Telangiectasia
A-T Children's Project

Book Resources On Ataxia-Telangiectasia

Ataxia-Telangiectasia: Genetics, Neuropathology, & Immunology of the Degenerative Disease of Childhood by Gatti & Swift (Editors)
Ataxia Telangiectasia: A Medical Dictionary, Bibliography, And Annotated Research Guide To Internet References by Icon Health Publications

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