Myoclonus in ataxia-telangiectasia

Pichet Termsarasab; Amy C Yang; Steven J Frucht

doi:10.7916/D88P5Z9X

Myoclonus in ataxia-telangiectasia

Tremor Other Hyperkinet Mov (N Y). 2015 Mar 13:5:298. doi: 10.7916/D88P5Z9X. eCollection 2015.

Authors

Pichet Termsarasab¹, Amy C Yang², Steven J Frucht¹

Affiliations

¹ Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
² Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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.

Keywords: Ataxia; founder mutation; myoclonus; telangiectasia.