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

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.

Source: Journal of Stroke and Cerebrovascular Diseases - November 28, 2018 Category: Neurology Authors: Nicolas Legris, Olivier Chassin, Ghaidaa Nasser, Florence Riant, Elisabeth Tournier-Lasserve, Christian Denier Tags: Case Report Source Type: research