A new family with GLRB-related hyperekplexia showing chorea in homo- and heterozygous variant carriers

Parkinsonism Relat Disord. 2020 Oct:79:97-99. doi: 10.1016/j.parkreldis.2020.08.016. Epub 2020 Aug 18.
No abstract available

Keywords: Chorea; Glycine receptor; Hyperekplexia; Startle; Stiffness.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Chorea / etiology
  • Chorea / genetics*
  • Chorea / physiopathology
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Hyperekplexia / complications
  • Hyperekplexia / genetics*
  • Hyperekplexia / physiopathology
  • Male
  • Pedigree
  • Receptors, Glycine / genetics*

Substances

  • GLRB protein, human
  • Receptors, Glycine