Tremor and other hyperkinetic movements (New York, N.Y.) · 2015
Myoclonus in ataxia-telangiectasia.
СтатьяНазвание и аннотация: Перевод в очереди
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Termsarasab Pichet, Yang Amy C, Frucht Steven J
Аннотация
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.
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.