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.
Keywords: Alpha-fetoprotein; Ataxia-telangiectasia; Cerebellar ataxia; Immunodeficiency; Malignancies; Oculocutaneous telangiectasia.
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