Ataxia-telangiectasia

Ataxia-telangiectasia (A-T) is an inherited disease that affects the nervous system, the immune system, and leads to an increased risk of cancer. It involves the absence or reduction of the ATM (ataxia-telangiectasia mutated) protein that is involved in the control of cell division, DNA repair, natural cell death, and other important cell functions. Symptoms associated with ataxia-telangiectasia are due to lack of control in cell growth and DNA repair, which leads to premature cell death or the formation of cancer cells. Ataxia-telangiectasia is also known as Louis-Bar syndrome. View testing options