家族性偏瘫性偏头痛的遗传学机制研究进展*
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1.华北理工大学研究生院;2.河北医科大学研究生院;3.河北省人民医院

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R747.2

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河北省自然科学基金(H2020307041);中央引导地方科技发展资金项目(236Z7745G)


Progress in the Genetic Mechanisms of Familial Hemiplegic MigraineWeimei Li1,3, Luyu He1,3, Xinyu Liu1,3, Leyi Yang2,3, Hebo Wang2,3,4
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1.North China University of Science and Technology;2.Graduate School of Hebei Medical University;3.Hebei General Hospital

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    摘要:

    家族性偏瘫性偏头痛是一种罕见的常染色体显性有先兆偏头痛亚型,可伴有除可逆性肢体无力之外的包括视觉、言语、感觉等任一先兆,其致病基因均编码离子通道亚基,并影响与先兆发生有关的皮层扩散抑制的启动和传播。与之相反,更常见形式偏头痛的候选基因关联研究和连锁研究不太成功,易感基因难以明确,现综述其致病基因突变特点及其影响皮层扩散抑制启动和传播的机制, 期望为更常见类型偏头痛提供可供参考的遗传模型,探索新的偏头痛预防性治疗策略。

    Abstract:

    Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura, which may be accompanied by any aura including vision, speech, and sensation in addition to reversible limb weakness. Its pathogenic genes all encode ion channel subunits and affect the initiation and propagation of cortical spreading depression associated with the occurrence of aura. In contrast, candidate gene association studies and linkage studies of more common forms of migraine have been less successful, and susceptibility genes are difficult to identify. This paper reviews the characteristics of its pathogenic gene mutations and the mechanisms that affect the initiation and propagation of CSD, hoping to provide a reference genetic model for more common forms of migraine and explore new preventive treatment strategies for migraine.

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  • 收稿日期:2024-08-23
  • 最后修改日期:2024-10-01
  • 录用日期:2025-01-11
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