Article ID Journal Published Year Pages File Type
1913289 Journal of the Neurological Sciences 2015 4 Pages PDF
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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