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Familial basilar migraine associated with a new mutation in the ATP1A2 gene

A Ambrosini1, M D'Onofrio, G S Grieco

  • 1Headache Clinic, INM Neuromed, Pozzilli, Italy. anna.ambrosini@neuromed.it

Neurology
|December 14, 2005
PubMed

Insights

Basilar migraine (BM) and familial hemiplegic migraine (FHM) share similarities. A novel ATP1A2 gene mutation found in a BM family suggests these migraine types may be allelic disorders.

Area of Science:

  • Neurology
  • Genetics

Background:

  • Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are clinically similar migraine with aura subtypes.
  • Motor symptoms differentiate FHM/SHM from BM.
  • Previous studies linked FHM to CACNA1A and ATP1A2 gene mutations.

Purpose of the Study:

  • To investigate the genetic basis of basilar migraine.
  • To determine if genetic factors underlying FHM are also implicated in BM.

Main Methods:

  • Genetic analysis of a family with basilar migraine.
  • Mutation screening of the ATP1A2 gene.

Main Results:

  • A novel mutation, R548H, was identified in the ATP1A2 gene in affected family members with BM.
  • This mutation suggests a potential genetic link between BM and FHM.

Conclusions:

  • Basilar migraine and familial hemiplegic migraine may be allelic disorders.
  • The ATP1A2 gene is implicated in the pathogenesis of basilar migraine.

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