Responsiveness to levodopa in epsilon-sarcoglycan deletions.
Responsiveness to levodopa in epsilon-sarcoglycan deletions.
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ε-肌聚糖缺失中对左旋多巴的反应性。
DOI：
10.1002/mds.22375
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发表时间：
2009
期刊：
影响因子：
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通讯作者：
Saunders-Pullman,Rachel
中科院分区：
文献类型：
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作者：
Luciano,MartaSan;Ozelius,Laurie;Sims,Katherine;Raymond,Deborah;Liu,Liu;Saunders-Pullman,Rachel
肌阵挛-肌张力障碍（M-D）的特征是早发性肌阵挛和肌张力障碍，通常是由于7 q21位点的β-肌聚糖基因（SCGE）突变所致。M-D的发病机制知之甚少，在小鼠基因敲除模型中，多巴胺能亢进被假定为一种机制。我们介绍了两名由于SCGE缺失而患有M-D的不相关个体，他们对左旋多巴（L-多巴）治疗表现出稳健和持续的反应。与高多巴胺能基因敲除模型所建议的使用多巴胺阻断剂相反，我们建议可以考虑在肌阵挛-肌张力障碍患者中进行左旋多巴试验。© 2008运动障碍协会
Myoclonus‐dystonia (M‐D) is characterized by early‐onset myoclonus and dystonia, and is often due to mutations in the epsilon‐sarcoglycan gene (SCGE) at locus 7q21. The pathogenesis of M‐D is poorly understood, and in a murine knockout model, dopaminergic hyperactivity has been postulated as a mechanism. We present two unrelated individuals with M‐D due to SCGE deletions who displayed a robust and sustained response to levodopa (L‐dopa) treatment. In contrast to using dopamine blocking agents suggested by the hyperdopaminergic knockout model, we propose that a trial ofL‐dopa may be considered in patients with myoclonus‐dystonia. © 2008 Movement Disorder Society