Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1913289 | Journal of the Neurological Sciences | 2015 | 4 Pages |
Abstract
•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.
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Authors
Hélio A.G. Teive, Adriana Moro, Mariana Moscovich, Walter O. Arruda, Renato P. Munhoz, Salmo Raskin, Tetsuo Ashizawa,