PDF(Pubmed)
Abstract：
Migraine is a disabling neurological disorder burdening patients globally. Through the increasing development of preclinical and clinical experimental migraine models, advancing appreciation of the extended clinical phenotype, and functional neuroimaging studies, we can further our understanding of the neurobiological basis of this highly disabling condition. Despite increasing understanding of the molecular and chemical architecture of migraine mechanisms, many areas require further investigation. Research over the last three decades has suggested that migraine has a strong genetic basis, based on the positive family history in most patients, and this has steered exploration into possibly implicated genes. In recent times, human genome-wide association studies and rodent genetic migraine models have facilitated our understanding, but most migraine seems polygenic, with the monogenic migraine mutations being considerably rarer, so further large-scale studies are required to elucidate fully the genetic underpinnings of migraine and the translation of these to clinical practice. The monogenic migraine mutations cause severe aura phenotypes, amongst other symptoms, and offer valuable insights into the biology of aura and the relationship between migraine and other conditions, such as vascular disease and sleep disorders. This review will provide an outlook of what is known about some monogenic migraine mutations, including familial hemiplegic migraine, familial advanced sleep-phase syndrome, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
摘要：
偏头痛是一种致残的神经系统疾病，给全球患者带来负担。通过日益发展的临床前和临床实验偏头痛模型，推进对扩展临床表型的评价，和功能性神经影像学研究，我们可以进一步了解这种高度致残状态的神经生物学基础。尽管对偏头痛机制的分子和化学结构有了越来越多的了解，许多领域需要进一步调查。过去三十年的研究表明，偏头痛有很强的遗传基础，根据大多数患者的阳性家族史，这引导了对可能涉及的基因的探索。最近,人类全基因组关联研究和啮齿动物遗传偏头痛模型促进了我们的理解，但是大多数偏头痛似乎是多基因的，单基因偏头痛突变相当罕见，因此，需要进一步的大规模研究来充分阐明偏头痛的遗传基础，并将其转化为临床实践。单基因偏头痛突变导致严重的先兆表型，在其他症状中，并提供对先兆生物学以及偏头痛与其他疾病之间关系的宝贵见解，如血管疾病和睡眠障碍。这篇综述将提供一些已知的单基因偏头痛突变的展望，包括家族性偏瘫偏头痛,家族性晚期睡眠期综合征,常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病。
