Head tremor related to CACNA1A mutations

Cephalalgia. 2011 Sep;31(12):1315-9. doi: 10.1177/0333102411414442. Epub 2011 Jul 18.

Abstract

Introduction: Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Besides hemiplegia, several other symptoms have been described in FHM 1-3 mutation carriers, including epilepsy and cerebellar symptoms.

Case report: We describe two patients in whom hemiplegic attacks were not the presenting symptom, but in whom an otherwise unexplained head tremor led us to search for FHM mutations. Both patients carried a mutation in the CACNA1A gene.

Discussion: CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Calcium Channels / genetics*
  • Female
  • Head*
  • Headache / genetics
  • Humans
  • Middle Aged
  • Mutation*
  • Pedigree
  • Tremor / genetics*

Substances

  • CACNA1A protein, human
  • Calcium Channels