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.
- Cerebellar ataxia
- Oculocutaneous telangiectasia
ASJC Scopus subject areas
- Clinical Neurology