Myoclonus in Ataxia–Telangiectasia

Termsarasab, Pichet; Yang, Amy C.; Frucht, Steven J.

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


Also Published In

Tremor and Other Hyperkinetic Movements

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
October 14, 2015