Dystonia of the soft palate: Mutation of the THAP1 (DYT6) gene in a 42-year-old patient

Rev Neurol (Paris). 2018 Jan-Feb;174(1-2):67-68. doi: 10.1016/j.neurol.2017.06.013. Epub 2017 Nov 10.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Apoptosis Regulatory Proteins / genetics*
  • Botulinum Toxins, Type A / therapeutic use
  • DNA-Binding Proteins / genetics*
  • Dystonia / genetics*
  • Dystonia / physiopathology
  • Electromyography
  • Humans
  • Male
  • Mutation
  • Neuromuscular Agents / therapeutic use
  • Nuclear Proteins / genetics*
  • Palate, Soft / physiopathology*
  • Speech Disorders / drug therapy
  • Speech Disorders / etiology

Substances

  • Apoptosis Regulatory Proteins
  • DNA-Binding Proteins
  • Neuromuscular Agents
  • Nuclear Proteins
  • THAP1 protein, human
  • Botulinum Toxins, Type A