Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation

J Stroke Cerebrovasc Dis. 2019 Feb;28(2):e3-e4. doi: 10.1016/j.jstrokecerebrovasdis.2018.10.021. Epub 2018 Nov 28.


PRRT2 gene mutations cause paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions, hemiplegic migraine, and episodic ataxia. A 21-year-old woman reported an episode of dizziness and ataxic gait occurring after swimming. Brain MRI showed a hyperintense cerebellar lesion on diffusion-weighted imaging (DWI) with decreased apparent diffusion coefficient. The clinical course was favorable. Both clinical and MRI abnormalities regressed. Her brother had presented PKD since adulthood. A C.649dupC PRRT2 truncating mutation was identified in both patients. To our knowledge, this is the first case of an acute cerebellar ataxia associated with heterozygous PRRT2 mutation and transient cerebellar hyperintensity on DWI. Among the clinical and genetic heterogeneities of familial paroxysmal disorders, PRRT2 mutation may be considered in patients with episodic cerebellar ataxia and diffusion restriction on neuroimaging.

Keywords: Episodic ataxia; diffusion-weighted imaging (DWI); stroke mimic.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / diagnostic imaging*
  • Ataxia / genetics*
  • Cerebellar Ataxia / diagnostic imaging*
  • Cerebellar Ataxia / genetics*
  • Diagnosis, Differential
  • Diffusion Magnetic Resonance Imaging*
  • Female
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Membrane Proteins / genetics*
  • Mutation*
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Predictive Value of Tests
  • Young Adult


  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human

Supplementary concepts

  • Episodic Ataxia