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Columbus Clinical Research

99 North Brice Rd, Suite 260
Columbus, OH 43213
P: 614.501.6164
E: info@columbusclinical.com

ataxia-telangiectasia: Diseases & Medical Conditions Search Results
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ataxia-telangiectasia - Definition: (Source: MedicineNet)

Mutations in the ATM gene cause ataxia-telangiectasia, an autosomal recessive disorder. (People with this disorder have two mutated copies of ATM.) The mutated ATM gene makes a protein that does not function properly because it is truncated (abnormally short). As a result, the cells are hypersensitive to radiation and do not respond correctly to DNA damage. Instead of activating DNA repair, the defective ATM protein allows mutations to accumulate in other genes. In addition, ATM mutations may al ...
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About ataxia-telangiectasia (Source: eMedicineHealth)
A progressive neurodegenerative genetic disease characterized by cerebellar ataxia (incoordination and lack of balance), ocular telangiectasia ("red eyes" due to widening of small blood vessels in the conjunctiva), immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. Ataxia-telangiectasia (A-T) cells are abnormally sensitive to killing by ionizing radiation. A-T becomes evident in early childhood, usually in the first decade of life. The hallmarks of A-T are lac ...
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