CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

Abstract

Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.

• Authors: B de Vries, A H Stam, F Beker, A M J M van den Maagdenberg, K R J Vanmolkot, Laem Laan, I B Ginjaar, R R Frants, H Lauffer, J Haan, J P Haas, G M Terwindt, M D Ferrari
• Journal: Cephalalgia : an international journal of headache (Cephalalgia) Vol. 28 Issue 8 Pg. 887-91 (Aug 2008) ISSN: 1468-2982 [Electronic] England
• PMID: 18498393 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• CACNA1A protein, human
• Calcium Channels

Topics

• Adolescent
• Calcium Channels (genetics)
• Genetic Linkage
• Genetic Predisposition to Disease (genetics)
• Hemiplegia (genetics)
• Humans
• Male
• Migraine Disorders (genetics)
• Mutation
• Twins, Monozygotic (genetics)