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Review
. 2015 Aug 15;355(1-2):3-6.
doi: 10.1016/j.jns.2015.05.022. Epub 2015 May 29.

Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome

Hélio A G Teive  1 , Adriana Moro  2 , Mariana Moscovich  2 , Walter O Arruda  2 , Renato P Munhoz  3 , Salmo Raskin  4 , Tetsuo Ashizawa  5
Affiliations
Review

Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome

Hélio A G Teive et al. J Neurol Sci. .

Abstract

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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