Familial "Diplegic" Migraine - Description of a Family With a Novel CACNA1A Mutation

Headache. 2020 Mar;60(3):600-606. doi: 10.1111/head.13741. Epub 2020 Jan 22.


Objective: To characterize phenotypes of a novel CACNA1A mutation causing familial hemiplegic migraine type 1.

Background: Familial hemiplegic migraine is a rare monogenic form of migraine associated with attacks of fully reversible unilateral motor weakness. We now report a novel CACNA1A gene mutation associated with fully reversible bilateral motor weakness (diplegia).

Methods: The proband underwent genotyping which identified a novel CACNA1A missense mutation (c.622 [isoform 1] G > A [p.Gly208Arg]). To characterize phenotypes associated with this novel mutation, the proband and 8 of her similarly affected family members underwent a semi-structured interview.

Results: All 9 subjects who were interviewed met ICHD-3 phenotypic diagnostic criteria for FHM, including reporting attacks with reversible unilateral motor weakness. Additionally, 7 of 9 subjects reported attacks including reversible motor weakness affecting both sides of the body simultaneously.

Conclusions: We describe a novel CACNA1A mutation associated with migraine attacks including reversible diplegia.

Keywords: CACNA1A mutation; FHM1; familial hemiplegic migraine.

Publication types

  • Case Reports

MeSH terms

  • Calcium Channels / genetics*
  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / physiopathology*
  • Female
  • Humans
  • Middle Aged
  • Migraine Disorders / genetics*
  • Migraine Disorders / physiopathology*
  • Muscle Weakness / physiopathology
  • Pedigree


  • CACNA1A protein, human
  • Calcium Channels

Supplementary concepts

  • Hemiplegic migraine, familial type 1