A case of severe movement disorder with GNAO1 mutation responsive to topiramate

Brain Dev. 2017 May;39(5):439-443. doi: 10.1016/j.braindev.2016.11.009. Epub 2017 Jan 6.


We report the case of a 19-year-old female patient who had progressive chorea associated with a GNAO1 mutation. Chorea was refractory to multiple anticonvulsants, and the patient suffered from tiapride-induced neuroleptic malignant syndrome. After identification of a GNAO1 missense mutation at the age of 18years, topiramate treatment was initiated and the frequency of chorea decreased dramatically. The efficacy of topiramate may have been related to the inhibitory modulation of voltage-activated Ca2+ channels. Given the side effects and complications associated with neuroleptics and deep brain stimulation, respectively, topiramate is recommended for the first-line management of severe chorea associated with a GNAO1 mutation.

Keywords: Chorea; GNAO1; Pediatrics.

Publication types

  • Case Reports

MeSH terms

  • Databases, Bibliographic / statistics & numerical data
  • Female
  • Fructose / analogs & derivatives*
  • Fructose / therapeutic use
  • GTP-Binding Protein alpha Subunits, Gi-Go / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Movement Disorders / diagnostic imaging
  • Movement Disorders / drug therapy*
  • Movement Disorders / genetics*
  • Mutation / genetics*
  • Neuroprotective Agents / therapeutic use
  • Pharmacogenetics
  • Topiramate
  • Treatment Outcome
  • Young Adult


  • GNAO1 protein, human
  • Neuroprotective Agents
  • Topiramate
  • Fructose
  • GTP-Binding Protein alpha Subunits, Gi-Go