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.",

keywords = "Alpha-fetoprotein, Ataxia-telangiectasia, Cerebellar ataxia, Immunodeficiency, Malignancies, Oculocutaneous telangiectasia",

author = "Teive, {H{\'e}lio A G} and Adriana Moro and Mariana Moscovich and Arruda, {Walter O.} and Munhoz, {Renato P.} and Salmo Raskin and Tetsuo Ashizawa",

note = "Funding Information: Dr. Teive, Dr. Moro, Dr. Moscovich and Dr. Raskin have no conflict of interest to disclose. Dr. Munhoz received travel support for scientific meetings from Abbvie Pharmaceuticals; no conflict of interest. Dr. Ashizawa: this work was partly supported by the NIH Grant NS083564 . Publisher Copyright: {\textcopyright} 2015 Elsevier B.V. All rights reserved.",

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doi = "10.1016/j.jns.2015.05.022",

language = "English (US)",

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AU - Teive, Hélio A G

AU - Moro, Adriana

AU - Moscovich, Mariana

AU - Arruda, Walter O.

AU - Munhoz, Renato P.

AU - Raskin, Salmo

AU - Ashizawa, Tetsuo

N1 - Funding Information: Dr. Teive, Dr. Moro, Dr. Moscovich and Dr. Raskin have no conflict of interest to disclose. Dr. Munhoz received travel support for scientific meetings from Abbvie Pharmaceuticals; no conflict of interest. Dr. Ashizawa: this work was partly supported by the NIH Grant NS083564 . Publisher Copyright: © 2015 Elsevier B.V. All rights reserved.

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N2 - 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.

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.

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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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