Ataxia–Telangiectasia — Broad Implications for a Rare Disorder

Abstract

Ataxia–telangiectasia is a rare autosomal recessive disorder with diverse clinical manifestations. Patients typically come to medical attention in early childhood because of ataxia, and this is followed by progressive neuromotor degeneration, usually resulting in dependence on a wheelchair by 10 years of age. In addition to cerebellar degeneration, patients with ataxia–telangiectasia have elevated levels of alpha-fetoprotein, various immunologic deficiencies, growth retardation, premature aging, chromosomal instability, an increased frequency of lymphoreticular cancers, and hypersensitivity to ionizing radiation and radiomimetic drugs.¹ The defective gene responsible for this pleiotropic disorder (ATM) was recently identified by a multinational group led by investigators . . .