Familial Hemiplegic Migraine Presenting as Recurrent Encephalopathy in a Native Indian Family

Authors

  • Sian D. Spacey MD,

  • Kaate R. J. Vanmolkot MSc,

  • Colleen Murphy MD,

  • Arn M. J. M. Van Den Maagdenberg PhD,

  • Robin G. Y. Hsiung MD


  • From the Division of Neurology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada (Drs. Spacey, Murphy, and Hsiung); Brain Research Center, University of British Columbia, Vancouver, British Columbia, Canada (Drs. Spacey and Hsiung); Michael Smith Laboratories, University of British Columbia, Vancouver, British Columbia, Canada (Dr Spacey); Department of Human Genetics, Leiden University, Leiden, The Netherlands (Drs. Vanmolkot and Maagdenberg); and Department of Neurology, Leiden University, Leiden, The Netherlands (Dr. Maagdenberg).

Address all correspondence to Dr. Sian D. Spacey, Division of Neurology, University of British Columbia, 2211 Wesbrook Mall Vancouver, BC, Canada, V6T 2B5.

Abstract

Background.—Familial hemiplegic migraine (FHM) is an autosomal dominant disorder, which can result from mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. Typically, FHM presents with an aura of hemiplegia accompanied by a moderate-to-severe headache. FHM can be associated with other neurological findings including coma and seizures.

Methods.—We describe the clinical and genetic features of a two-generation, seven-member Native Indian family with recurrent encephalopathy and FHM.

Results.—Two of the three affected family members presented initially with encephalopathy, the third family member presented with classic episodes of migraine and hemiparesis. The CACNA1A gene locus was excluded in this family by haplotype analysis and no mutations were identified in the coding region of the ATP1A2 gene by direct sequencing.

Conclusions.—This emphasizes the genetic and clinical heterogeneity in familial hemiplagic migraine FHM and highlights the need to consider the diagnosis of FHM in cases of recurrent encephalopathy.

Ancillary