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Ataxia-telangiectasia (AT) is a rare, inherited disease that affects the nervous system, immune system and other body systems. Symptoms appear in young children and include
People with AT have an increased risk of developing diabetes and cancer, particularly lymphoma and leukemia. Although it affects the brain, people with AT usually have normal or above normal intelligence.
AT has no cure. Treatments might improve some symptoms. Options include injections to strengthen the immune system, physical and speech therapy and high-dose vitamin therapy. People with AT usually die in their teens or early twenties.
National Institute of Neurological Disorders and Stroke
'''Ataxia-telangiectasia''' (AT) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births (Lederman, 2000). AT is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, progressive cerebellar dysfunction, and recurrent sinopulmonary infections secondary to progressive immunological and neurological dysfunction (Boder, 1958). AT patients are significantly predisposed to cancer, particularly lymphoma and leukemia. Other manifestations of the disease include sensitivity to ionizing radiation (Taylor et al., 1975), premature aging, and hypogonadism (Regueiro et al., 2000). AT has been a major interest of scientists since the 1960’s because it may yield an insight into numerous other major health problems, such as cancer, neurological disease, immunodeficiency, and aging (Lederman, 2000). The responsible gene in AT, ataxia-telangiectasia mutated (ATM), was discovered in 1995 by a team led by Yosef Shiloh of Tel Aviv University in Israel. Researchers linked the hyper-sensitivity of AT patients to ionizing radiation (IR) and predisposition to cancer to “chromosomal instability, abnormalities in genetic recombination, and defective signaling to programmed cell death and several cell cycle checkpoints activated by DNA damage” (Canman, 1998). Earlier observations predicted that the gene altered in AT played a role in DNA damage recognition. These predictions were confirmed when a single gene on chromosome 11 was discovered (Savitsky et al., 1995, Gatti et al., 1982). Since its discovery, the protein product of the ATM gene has been shown to be a part of eukaryotic cell cycle control, DNA repair, and DNA recombination (Lavin, 2004). Telangiectasias are smalls, red 'spider' veins. These typically appear on the surface of the ears and cheeks or in the corners of the eyes in patients with AT. The 'ataxia' part of the name ... [ Read More ]
Ataxia-Telangiectasia (A-T) Foundation - Information about the foundation's efforts to find a cure for A-T.
A-T Children's Project - A clearinghouse for ataxia-telangiectasia information, including disease information, scientific research, clinical and family support, and fundraising.
Ataxia Telangiectasia Society - Details about the organization which is committed to helping, supporting and advising families affected by AT. Includes research, support and awareness.
Cathryn Dianne Achilles - Cathryn has Ataxia-telangiectasia. This is her story, along with some pictures.