Myoclonus in Ataxia–Telangiectasia

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 pre...

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Detalles Bibliográficos
Autores principales: Termsarasab, Pichet, Yang, Amy C., Frucht, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4365056/
https://www.ncbi.nlm.nih.gov/pubmed/25793145
http://dx.doi.org/10.7916/D88P5Z9X
Descripción
Sumario: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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