Format

Send to

Choose Destination
J Neurol Sci. 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.

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

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center