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Headache: a good year for research.

机译:头痛:研究的好一年。

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摘要

Migraine commonly dominates headache research; although, by raising general interest in headache, advances in migraine benefit other primary headache disorders.Familial hemiplegic migraine is an autosomal dominant disorder with weakness as part of the aura. Migraine aura is a set of neurological symptoms, typically visual disturbances such as scintillating scotoma, and occurs in about 30% of patients. Hemiplegic migraine is especially worrying for patients and physicians because the aura can mimic stroke. Dichgans and colleagues1 reported a missense mutation in SCN1A in three German families, thus characterising the genetic defect in familial hemiplegic migraine III. This mutation leads to a. Glnl489Lys substitution in a part of the channel that contributes to rapid closure after opening in response, to membrane depolarisation (fast inactivation). Instead of rapidly closing allowing the membrane to repolarise fully after an actionpotential, the mutated channel allows a persistent sodium influx. The new data lend support to the notion that at least the aura component of migraine might have a fundamentally ionopathic basis and renew optimism in the search for genes implicated in the more common forms of the disorder.
机译:偏头痛通常在头痛研究中占主导地位。尽管偏头痛的发展引起了人们的普遍兴趣,但偏头痛的进展又使其他原发性头痛疾病受益。家族性偏瘫偏头痛是一种常染色体显性遗传疾病,具有先兆性虚弱。偏头痛先兆是一组神经系统症状,通常是视觉障碍,例如闪烁的暗点,约30%的患者会发生。偏瘫性偏头痛对患者和医生而言尤其令人担忧,因为先兆可以模仿中风。 Dichgans及其同事1报告了三个德国家庭中SCN1A的错义突变,从而表征了家族性偏瘫偏头痛III的遗传缺陷。此突变导致在通道的一部分中Glnl489Lys取代有助于打开后响应膜去极化(快速失活)而迅速关闭。代替快速闭合,使膜在动作电位后完全重新极化,突变的通道允许持续的钠流入。新的数据支持这样一种观点,即至少偏头痛的先兆成分可能具有根本的电离病基础,并在寻找与该疾病的更常见形式有关的基因时重新乐观。

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