Open Access

Genetics of familial hemiplegic migraine

  • Anne Ducros,
  • Christian Denier and
  • Elisabeth Tournier-Lasserve
The Journal of Headache and PainOfficial Journal of the Italian Society for the Study of Headaches1:0001S129.10194

DOI: 10.1007/s101940070006


Familial hemiplegic migraine is an autosomal dominant form of migraine with aura, characterized by the occurrence of a motor deficit during the aura. In 20% of families, permanent cerebellar signs (ataxia or nystagmus) are observed. This condition is genetically heterogeneous. A first gene, CACNA1A, located on chromosome 19 and encoding the main subunit of P/Q type neuronal calcium channel, is implicated in 50% of unselected families and in all families with cerebellar symptoms. Thirteen distinct point mutations of CACNA1A have been identified so far in familial and sporadic cases. A second yet unidentified gene located on chromosome 1 is implicated in 20% of the families. One or more other genes are still to be mapped. Various approaches have been used to understand the mechanisms leading from the CACNA1A mutations to hemiplegic migraine, including in vitro electrophysiological studies as well as detailed analysis of the CACNA1A mutant mice tottering and leaner.

Key words Familial hemiplegic migraine Autosomal dominant Ataxia Calcium channel CACNA1A