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

J Neurol Sci. 2015 Aug 15;355(1-2):3-6. doi: 10.1016/j.jns.2015.05.022. Epub 2015 May 29.

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.

Publication types

  • Historical Article
  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Ataxia Telangiectasia / diagnosis*
  • Ataxia Telangiectasia / genetics
  • Ataxia Telangiectasia / history*
  • History, 20th Century
  • History, 21st Century
  • Humans
  • Mutation
  • Protein-Serine-Threonine Kinases / genetics
  • PubMed / statistics & numerical data

Substances

  • Protein-Serine-Threonine Kinases