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首页> 外文期刊>Journal of neurology >Cerebellar ataxias: news on genetics and the excitability of affected neurons.
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Cerebellar ataxias: news on genetics and the excitability of affected neurons.

机译：小脑共济失调：有关遗传和受影响神经元兴奋性的新闻。

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摘要

This month's Journal Club will focus on three articles that deal with cerebellar ataxias. In the first article, a novel causative gene of spinal cerebellar ataxias was identified using exome sequencing. This study not only identifies a new gene, but also demonstrates that exome sequencing is a promising method to significantly reduce the time required for the identification of novel mutations. The second article deals with cortical excitability in episodic ataxia type 2, the most frequent cause of episodic ataxia. It shows an increased excitability in the motor cortex of patients with episodic ataxia. On the other hand, subjects with familial hemiplegic migraine who have mutations in the same calcium channel gene did not have changes compared to control subjects. In the third article, threshold tracking techniques were applied to study nerve excitability in vivo in patients with episodic ataxia type 1, which is caused by mutations of a fast potassium channel. This technique showed significant differences between affected patients and controls. Thus, this simple 15 min test may also be a useful clinical diagnostic tool to support the diagnosis of episodic ataxia type 1 with high sensitivity and specificity.
机译：本月的日记俱乐部将重点介绍三篇有关小脑共济失调的文章。在第一篇文章中，使用外显子组测序鉴定了脊髓小脑性共济失调的新型致病基因。这项研究不仅鉴定了一个新基因，而且证明了外显子组测序是一种有希望的方法，可以大大减少鉴定新突变所需的时间。第二篇文章讨论了发作性共济失调类型2（发作性共济失调的最​​常见原因）中的皮质兴奋性。它表明发作性共济失调患者运动皮层的兴奋性增加。另一方面，与相同的钙通道基因突变的家族性偏瘫性偏头痛患者与对照组相比没有变化。在第三篇文章中，使用阈值跟踪技术研究了由快速钾通道突变引起的1型发作性共济失调患者体内的神经兴奋性。这项技术显示受影响的患者和对照组之间的显着差异。因此，这种简单的15分钟测试也可能是有用的临床诊断工具，以高敏感性和特异性支持对阵发性共济失调1型的诊断。

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