TPK1 mutation induced childhood onset idiopathic generalized dystonia: Report of a rare mutation and effect of deep brain stimulation

J Neurol Sci. 2017 May 15:376:42-43. doi: 10.1016/j.jns.2017.02.063. Epub 2017 Mar 1.
No abstract available

Keywords: Childhood onset generalized dystonia; Genetic dystonia; Movement disorders; Thiamine.

Publication types

  • Case Reports

MeSH terms

  • Brain / diagnostic imaging
  • Deep Brain Stimulation*
  • Dystonic Disorders / diagnostic imaging
  • Dystonic Disorders / genetics*
  • Dystonic Disorders / therapy*
  • Humans
  • Male
  • Mutation*
  • Thiamin Pyrophosphokinase / genetics*
  • Young Adult

Substances

  • Thiamin Pyrophosphokinase