Haan J, Kors E E, Vanmolkot Kaate R J, van den Maagdenberg Arn M J M, Frants Rune R, Ferrari M D
Department of Neurology, Leiden University Medical Centre, P.O. Box 9600, 2300 RC Leiden, The Netherlands. E-mail:
Curr Pain Headache Rep. 2005 Jun;9(3):213-20. doi: 10.1007/s11916-005-0065-9.
A growing interest in genetic research in migraine has resulted in the identification of several chromosomal regions that are involved in migraine. However, the identification of mutations in the genes for familial hemiplegic migraine (FHM) forms the only true molecular genetic knowledge of migraine thus far. The increased number of mutations in the FHM1 (CACNA1A) and the FHM2 (ATP1A2) genes allow studying the relationship between genetic findings in both genes and the clinical features in patients. A wide spectrum of symptoms is seen in patients. Additional cerebellar ataxia and (childhood) epilepsy can occur in FHM1 and FHM2. Functional studies show a dysfunction in ion transport as the key factor in the pathophysiology of (familial hemiplegic) migraine that predict an increased susceptibility to cortical spreading depression--the underlying mechanism of migraine aura.
对偏头痛基因研究的兴趣日益浓厚,已确定了几个与偏头痛相关的染色体区域。然而,家族性偏瘫性偏头痛(FHM)基因中的突变鉴定是迄今为止关于偏头痛唯一真正的分子遗传学知识。FHM1(CACNA1A)和FHM2(ATP1A2)基因中突变数量的增加,使得研究这两个基因的遗传学发现与患者临床特征之间的关系成为可能。患者会出现广泛的症状。FHM1和FHM2患者可能会出现额外的小脑共济失调和(儿童期)癫痫。功能研究表明,离子转运功能障碍是(家族性偏瘫性)偏头痛病理生理学的关键因素,这预示着对皮层扩散性抑制(偏头痛先兆的潜在机制)的易感性增加。