Familial hemiplegic migraine

Dan Med Bull. 2010 Sep;57(9):B4183.

Abstract

Familial hemiplegic migraine (FHM) is a rare, dominantly inherited subtype of migraine with aura, where hemiplegia occurs during the aura phase. Mutation screening of families with FHM has revealed a range of different mutations. The mutated FHM genes code for ion transport proteins. Animal and cellular studies have associated the mutated FHM genes with disturbed ion homeostasis, altered cellular excitability and altered neurotransmitter release. Abnormal cortical excitability due to dysfunctional ion-channels might facilitate cortical spreading depression (CSD) and thereby migraine aura and migraine headache. Genotyped FHM patients offer us the chance to study the interplay between genotype and phenotype and may be regarded as a genetic migraine model. FHM studies might open for a better understanding of the molecular migraine pathology, and potentially help to unravel the pathogenesis of the more common migraine forms. We have therefore studied genotyped FHM patients to understand the effect of genotype on the response to migraine provoking substances. We show here that two known migraine triggers failed to induce more migraine aura or migraine headache in FHM-patients than in healthy controls, thus indicating that the FHM genotype does not confer hypersensitivity to these migraine triggers. This has implications for our understanding of the headache mechanisms and raises the question whether FHM share neurobiological background with the common types of migraine. The aims of the present thesis were to test the hypothesis that FHM mutations might be associated with hypersensitivity to known migraine triggers and, thereby, share pathophysiological pathways with the common types of migraine, but our results disprove this hypothesis. Thus, FHM seems very different from MO and MA, both genetically and pathophysiologically. The fact that FHM genes regulate ion homeostasis cannot be extrapolated to the common types of migraine.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Calcitonin Gene-Related Peptide / metabolism
  • Calcium Channels / genetics
  • Cerebrovascular Circulation
  • Disease Models, Animal
  • Echoencephalography
  • Electroencephalography
  • Evoked Potentials
  • Female
  • Genetic Association Studies
  • Glutamic Acid / physiology
  • Hemodynamics
  • Humans
  • Male
  • Middle Aged
  • Migraine with Aura / classification
  • Migraine with Aura / genetics*
  • Migraine with Aura / physiopathology*
  • Mutation
  • Nitric Oxide / metabolism
  • Phenotype

Substances

  • CACNA1A protein, human
  • Calcium Channels
  • Nitric Oxide
  • Glutamic Acid
  • Calcitonin Gene-Related Peptide