Familial hemiplegic migraine, nystagmus, and cerebellar atrophy

Ann Neurol. 1996 Jan;39(1):100-6. doi: 10.1002/ana.410390115.

Abstract

Familial hemiplegic migraine (FHM) is an autosomal dominant disorder characterized by transient hemiplegia during the aura phase of a migraine attack. Nystagmus has been reported in individuals affected with this disorder, but the origin of the ocular motility findings is unknown. A three-generation family with FHM is described and clinical histories are outlined. Ocular motility evaluations were performed on 7 family members, 5 with a history of hemiplegic migraine and 2 without history of migraine. All affected family members had abnormal eye movements consistent with vestibulocerebellar dysfunction. Magnetic resonance imaging scans in affected family members revealed cerebellar vermian atrophy. DNA linkage analysis revealed a common marker in all the affected family members on chromosome 19. We suggest that the hemiplegic migraine attacks and the cerebellar degeneration are linked genetically and that the eye movements are not the ischemic sequelae of recurrent migraine. Strikingly similar ocular motility findings and cerebellar degeneration are reported in both FHM and a genetically related disorder, hereditary paroxysmal cerebellar ataxia (HPCA). The significance of these similarities is discussed along with a proposed pathophysiology for FHM.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Atrophy / complications
  • Cerebellum / pathology*
  • Child
  • Chromosomes, Human, Pair 19 / genetics
  • DNA / analysis
  • Female
  • Hemiplegia / complications
  • Hemiplegia / genetics*
  • Humans
  • Lod Score
  • Magnetic Resonance Imaging
  • Male
  • Migraine Disorders / complications
  • Migraine Disorders / genetics*
  • Nystagmus, Pathologic / complications
  • Nystagmus, Pathologic / genetics*
  • Pedigree

Substances

  • DNA