Myoclonus in ataxia–telangiectasia

Pichet Termsarasab, Amy Yang, Steven J. Frucht

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

Fingerprint

Myoclonus
Chorea
Mutation
Dystonia
Movement Disorders
Ataxia
Genes
Exons
Population

Keywords

  • Ataxia
  • Founder mutation
  • Myoclonus
  • Telangiectasia

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Myoclonus in ataxia–telangiectasia. / Termsarasab, Pichet; Yang, Amy; Frucht, Steven J.

In: Tremor and Other Hyperkinetic Movements, Vol. 2015, No. 1, 27.02.2015.

Research output: Contribution to journalArticle

Termsarasab, Pichet ; Yang, Amy ; Frucht, Steven J. / Myoclonus in ataxia–telangiectasia. In: Tremor and Other Hyperkinetic Movements. 2015 ; Vol. 2015, No. 1.
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