TMEM151A as an alternative to PRRT2 in paroxysmal kinesigenic dyskinesia: About three new cases

Parkinsonism Relat Disord. 2023 Mar:108:105295. doi: 10.1016/j.parkreldis.2023.105295. Epub 2023 Jan 27.

Abstract

Paroxysmal kinesigenic dyskinesia (PKD) are movement disorders triggered by sudden voluntary movement. Variants in the TMEM151A gene have recently been associated with the development of PKD. We report three patients presenting PKD with different TMEM151A mutations, two of which have not been described yet.

Keywords: Dystonia; PRRT2; Paroxysmal kinesigenic dyskinesia; TMEM151A.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Dystonia* / genetics
  • Humans
  • Membrane Proteins* / genetics
  • Mutation
  • Nerve Tissue Proteins / genetics

Substances

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

Supplementary concepts

  • Familial paroxysmal dystonia