Myoclonus in Ataxia–Telangiectasia. (13th March 2015)

• Record Type: Journal Article
• Authors: Termsarasab, Pichet; Yang, Amy C.; Frucht, Steven J.
• Editors: Louis, Elan D.
• Is Part Of: Tremor and other hyperkinetic movements. Volume 5(2015)
• Publication Date: 2015-03-13
• Subjects: Ataxia -- myoclonus -- telangiectasia -- founder mutation; Tremor -- Periodicals; Hyperkinesia -- Periodicals; 616.8
• DOI: 10.7916/D88P5Z9X
• Languages: English
• ISSNs: 2160-8288

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.