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

 2015 Aug 15;355(1-2):3-6. doi: 10.1016/j.jns.2015.05.022. Epub 2015 May 29.
Teive HA1, Moro A2, Moscovich M2, Arruda WO2, Munhoz RP3, Raskin S4, Ashizawa T5.

Author information

1
Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. Electronic address: hagteive@mps.com.br.
2
Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.
3
Movement Disorders Centre, Toronto Western Hospital, Toronto University, Toronto, ON, Canada.
4
Genetika Laboratory, Curitiba, PR, Brazil.
5
Neurology Department and McKnight Brain Institute, University of Florida, Gainesville, FL, USA.

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

PMID:
 
26050521
 
PMCID:
 
PMC5161405
 
DOI:
 
10.1016/j.jns.2015.05.022
[Indexed for MEDLINE] 
Free PMC Article