Myoclonus in ataxia–telangiectasia

Pichet Termsarasab, Amy Yang, Steven J. Frucht

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Background: Various movement disorders can be found in ataxia–telangiectasia (AT), including ataxia, dystonia, chorea, and myoclonus, but myoclonus has rarely been described as the predominant feature in AT. Case Report: We report two AT patients with prominent myoclonus, illustrating an unusual presentation of this disorder. Sequencing of the ATM gene in the first patient revealed a homozygous truncating mutation, c.5908C>T (p.Q1970*) in exon 38 of the ATM gene, which has been previously reported as a founder mutation in the Costa Rican population. Discussion: Myoclonus can be a predominant or presenting feature in AT, even without dystonia.

Original languageEnglish (US)
JournalTremor and Other Hyperkinetic Movements
Volume2015
Issue number1
DOIs
StatePublished - Feb 27 2015
Externally publishedYes

Keywords

  • Ataxia
  • Founder mutation
  • Myoclonus
  • Telangiectasia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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