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 journalReview article

51 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 languageEnglish (US)
Pages (from-to)3-6
Number of pages4
JournalJournal of the Neurological Sciences
Volume355
Issue number1-2
DOIs
StatePublished - Aug 15 2015

Keywords

  • Alpha-fetoprotein
  • Ataxia-telangiectasia
  • Cerebellar ataxia
  • Immunodeficiency
  • Malignancies
  • Oculocutaneous telangiectasia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome'. Together they form a unique fingerprint.

Cite this