Migraine: gene mutations and functional consequences

被引:97
作者
van den Maagdenberg, Arn M. J. M.
Haan, Joost
Terwindt, Gisela M.
Ferrari, Michel D.
机构
[1] Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, Netherlands
[2] Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands
[3] Rijnland Hosp, Dept Neurol, Leiderdorp, Netherlands
关键词
ATP1A2; CACNA1A; SCN1A; familial hemiplegic migraine; ion transport;
D O I
10.1097/WCO.0b013e3281338d1f
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Purpose of view Genetic and functional studies of mutations in familial hemiplegic migraine reveal a major role for disturbed ion transport. Gene identification in common, multifactorial migraine remains challenging. Recent findings Several new mutations have been identified in FHM1, FHM2 and FHM3 genes. Functional consequences of familial hemiplegic migraine mutations point to an important role for cortical spreading depression in migraine pathophysiology. New genetic approaches have been tested in common migraine - novel chromosomal loci - but no gene variants have been identified. Summary Identification and analysis of gene mutations in familial hemiplegic migraine revealed a major role for disturbed ion transport in this order. Cellular and transgenic mouse models of familial hemiplegic migraine genes suggest that increased pottasium and glutamate play a role in the pathphysiology of the disorder. Despite progress, no genes have been discovered for common migraine.
引用
收藏
页码:299 / 305
页数:7
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