Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier

Tremor Other Hyperkinet Mov (N Y). 2018 Dec 3:8:616. doi: 10.7916/D8S488X0. eCollection 2018.

Abstract

Background: Paroxysmal movement disorders are rare and heterogeneous genetic conditions characterized by the recurrence of transient involuntary movements.

Phenomenology shown: The phenomenology of a paroxysmal kinesigenic dyskinesia in a young professional athlete.

Educational value: Providing basic clinical and genetic elements for the early recognition and diagnosis of a rare movement disorder.

Keywords: PRRT2; Paroxysmal dyskinesia; dystonia; paroxysmal exercise‐induced dyskinesia; paroxysmal kinesigenic dyskinesia; paroxysmal non‐kinesigenic dyskinesia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Chorea / diagnosis*
  • Chorea / genetics*
  • Diagnosis, Differential
  • Heterozygote*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*

Substances

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