Title: Ataxia-Telangiectasia patients get a rare chance to meet the experts at a
Abstract: Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition.A-T occurs in between 1 in 40,000 and 1 in 100,000 live births.The first symptoms normally occur in early childhood when the infant begins to walk.Affected children have immunodeficiency and an increased predisposition for cancers.A-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name.