Afg3l2-related spastic ataxia-neuropathy syndrome

Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.

Disease Alternative Name

louis-bar syndrome
ataxia-telangiectasia
ataxia telangiectasia syndrome
ataxia telangiectasia
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