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

Hélio A G Teive; Adriana Moro; Mariana Moscovich; Walter O. Arruda; Renato P. Munhoz; Salmo Raskin; Tetsuo Ashizawa

doi:10.1016/j.jns.2015.05.022

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

Hélio A G Teive, Adriana Moro, Mariana Moscovich, Walter O. Arruda, Renato P. Munhoz, Salmo Raskin, Tetsuo Ashizawa

Research output: Contribution to journal › Review article › peer-review

75 Scopus citations

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.

Original language	English (US)
Pages (from-to)	3-6
Number of pages	4
Journal	Journal of the Neurological Sciences
Volume	355
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2015.05.022
State	Published - Aug 15 2015

Keywords

Alpha-fetoprotein
Ataxia-telangiectasia
Cerebellar ataxia
Immunodeficiency
Malignancies
Oculocutaneous telangiectasia

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1016/j.jns.2015.05.022

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title = "Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome",

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.",

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AU - Arruda, Walter O.

AU - Munhoz, Renato P.

AU - Raskin, Salmo

AU - Ashizawa, Tetsuo

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AB - 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.

KW - Alpha-fetoprotein

KW - Ataxia-telangiectasia

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KW - Immunodeficiency

KW - Malignancies

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

Abstract

Keywords

ASJC Scopus subject areas

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