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家族性偏瘫性偏头痛。

Familial hemiplegic migraine.

机构信息

Wolfson Sensory, Pain and Regeneration Research Centre (SPaRRC), Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.

Wolfson Sensory, Pain and Regeneration Research Centre (SPaRRC), Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.

出版信息

Handb Clin Neurol. 2024;203:135-144. doi: 10.1016/B978-0-323-90820-7.00007-0.

Abstract

Hemiplegic migraine consists of attacks of migraine with aura that includes reversible motor weakness. It is classified as familial or sporadic depending on the involvement or not of a first or second degree relative. The most described subtypes of familial hemiplegic migraine include FHM1, FHM2, and FHM3. These have been demonstrated to have a mutation in either CACNA1A, ATP1A2 or SCN1A, which encode different subunits of channels, involving P/Q-type calcium channel, Na/K pump and Na channel, respectively, located in neurons and glial cells. Mutations localized in different genes are defined as "other loci." Patients with a known mutation can have different genetic penetrance, and may present a more complex and disabling phenotype that develops earlier in life. The clinical manifestations can be similar in the three mutations, including neurologic comorbidities other than muscular weakness, such as episodes of loss of consciousness, epilepsy, gait or limb ataxia or movement disorders, among others. Treatment includes antiepileptics such as lamotrigine, valproate or topiramate, calcium blockers such as flunarizine or verapamil and acetazolamide.

摘要

偏瘫型偏头痛由伴有可恢复性运动无力的偏头痛发作组成。根据是否存在一级或二级亲属受累,它可分为家族性或散发性。最常描述的家族性偏瘫偏头痛亚型包括 FHM1、FHM2 和 FHM3。这些疾病已被证明在 CACNA1A、ATP1A2 或 SCN1A 中存在突变,这些基因分别编码通道的不同亚基,涉及 P/Q 型钙通道、Na/K 泵和 Na 通道,位于神经元和神经胶质细胞中。定位于不同基因中的突变被定义为“其他位点”。有已知突变的患者可能具有不同的遗传外显率,并且可能表现出更复杂和致残的表型,这种表型在生命早期更早出现。三种突变的临床表现相似,包括除肌无力以外的神经合并症,如意识丧失发作、癫痫、步态或肢体共济失调或运动障碍等。治疗包括使用抗癫痫药,如拉莫三嗪、丙戊酸钠或托吡酯、钙通道阻滞剂,如氟桂利嗪或维拉帕米和乙酰唑胺。

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