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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

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D88P5Z9X

More About This Work

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