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 articlepeer-review

66 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

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