Teaching Video NeuroImage: New STUB1 Variant Causes Chorea, Tremor, Dystonia, Myoclonus, Ataxia, Depression, Cognitive Impairment, Epilepsy, and Superficial Siderosis

Neurology. 2021 Oct 26;97(17):e1749-e1750. doi: 10.1212/WNL.0000000000012264. Epub 2021 May 26.
No abstract available

Publication types

  • Video-Audio Media

MeSH terms

  • Ataxia / genetics
  • Chorea / genetics
  • Cognitive Dysfunction / genetics
  • Depression / genetics
  • Dystonia / genetics
  • Epilepsy / genetics
  • Female
  • Humans
  • Male
  • Mutation
  • Myoclonus / genetics
  • Pedigree
  • Siderosis / genetics
  • Tremor / genetics
  • Ubiquitin-Protein Ligases / genetics*

Substances

  • STUB1 protein, human
  • Ubiquitin-Protein Ligases