Ataxia-telangiectasia — A historical review and a proposal for a new designation: ATM syndrome

• We reviewed historical descriptions of ataxia-telangiectasia (A-T).
• We described the genetic discoveries of A-T since 1988, when A-T gene was mapped.
• There are several atypical cases of A-T, without oculocutaneous telangiectasia.
• We proposed a new name for A-T: ATM syndrome.

The authors review ataxia telangiectasia, emphasizing historical aspects, genetic discoveries, and the clinical presentations of the classical and atypical forms. In fact, ataxia telangiectasia represents a multisystem entity with pleomorphic neurological and systemic manifestations. ATM syndrome is proposed as a more adequate designation for this entity.