Article
Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.
Journal of the neurological sciences - 15 Aug 2015
Teive Hélio A G, Moro Adriana, Moscovich Mariana, Arruda Walter O, Munhoz Renato P, Raskin Salmo, Ashizawa Tetsuo
Abstract excerpt
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.
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