共济失调毛细血管扩张症中的肌阵挛
Myoclonus in ataxia-telangiectasia.
作者信息
Termsarasab Pichet, Yang Amy C, Frucht Steven J
机构信息
Movement Disorder Division, Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2015 Mar 13;5:298. doi: 10.7916/D88P5Z9X. eCollection 2015.
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.
背景
共济失调毛细血管扩张症（AT）可出现多种运动障碍，包括共济失调、肌张力障碍、舞蹈症和肌阵挛，但肌阵挛很少被描述为AT的主要特征。
病例报告
我们报告了两名以明显肌阵挛为特征的AT患者，展示了这种疾病的一种不寻常表现。对首例患者的ATM基因进行测序，发现ATM基因第38外显子存在纯合截断突变c.5908C>T（p.Q1970*），该突变先前在哥斯达黎加人群中被报道为始祖突变。
讨论
即使没有肌张力障碍，肌阵挛也可能是AT的主要或首发特征。
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