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

86 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

Access to Document

10.1016/j.jns.2015.05.022

Cite this

@article{0119f33259da4f81b71065b9e70c23b8,

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",

year = "2015",

month = aug,

day = "15",

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

language = "English (US)",

volume = "355",

pages = "3--6",

journal = "Journal of the Neurological Sciences",

issn = "0022-510X",

publisher = "Elsevier B.V.",

number = "1-2",

}

TY - JOUR

T1 - Ataxia-telangiectasia - A historical review and a proposal for a new designation

T2 - ATM syndrome

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

PY - 2015/8/15

Y1 - 2015/8/15

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.

KW - Alpha-fetoprotein

KW - Ataxia-telangiectasia

KW - Cerebellar ataxia

KW - Immunodeficiency

KW - Malignancies

KW - Oculocutaneous telangiectasia

UR - https://www.scopus.com/pages/publications/84937523134

UR - https://www.scopus.com/inward/citedby.url?scp=84937523134&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2015.05.022

DO - 10.1016/j.jns.2015.05.022

M3 - Review article

C2 - 26050521

AN - SCOPUS:84937523134

SN - 0022-510X

VL - 355

SP - 3

EP - 6

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

IS - 1-2

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this