Myoclonus in ataxia–telangiectasia

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

doi:10.7916/D88P5Z9X

Myoclonus in ataxia–telangiectasia

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

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Original language	English (US)
Journal	Tremor and Other Hyperkinetic Movements
Volume	2015
Issue number	1
DOIs	https://doi.org/10.7916/D88P5Z9X
State	Published - Feb 27 2015
Externally published	Yes

Keywords

Ataxia
Founder mutation
Myoclonus
Telangiectasia

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.7916/D88P5Z9X

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abstract = "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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AU - Termsarasab, Pichet

AU - Yang, Amy C.

AU - Frucht, Steven J.

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N2 - 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.

AB - 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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KW - Telangiectasia

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Myoclonus in ataxia–telangiectasia

Abstract

Keywords

ASJC Scopus subject areas

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