TSFM mutations cause a complex hyperkinetic movement disorder with strong relief by cannabinoids

Parkinsonism Relat Disord. 2019 Mar;60:176-178. doi: 10.1016/j.parkreldis.2018.09.031. Epub 2018 Sep 29.
No abstract available

Keywords: Cannabinoids; Chorea; Hyperkinetic movement disorders; Leigh syndrome; Mitochondrial; Subthalamic nucleus.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cannabinoid Receptor Agonists / administration & dosage
  • Cannabinoid Receptor Agonists / pharmacology*
  • Consanguinity
  • Dronabinol / administration & dosage
  • Dronabinol / pharmacology*
  • Humans
  • Hyperkinesis / drug therapy*
  • Hyperkinesis / genetics*
  • Hyperkinesis / pathology
  • Hyperkinesis / physiopathology
  • Magnetic Resonance Imaging
  • Male
  • Medical Marijuana / administration & dosage
  • Medical Marijuana / pharmacology*
  • Mitochondrial Proteins / genetics*
  • Movement Disorders / drug therapy*
  • Movement Disorders / genetics*
  • Movement Disorders / pathology
  • Movement Disorders / physiopathology
  • Peptide Elongation Factors / genetics*
  • Subthalamic Nucleus / diagnostic imaging
  • Subthalamic Nucleus / pathology*
  • Young Adult

Substances

  • Cannabinoid Receptor Agonists
  • Medical Marijuana
  • Mitochondrial Proteins
  • Peptide Elongation Factors
  • TSFM protein, human
  • Dronabinol