Myoclonus in ataxia-telangiectasia

Tremor and Other Hyperkinetic Movements
Pichet TermsarasabSteven J Frucht

Abstract

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. 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. Myoclonus can be a predominant or presenting feature in AT, even without dystonia.

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BETA
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