Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

Neurology. 2018 Oct 9;91(15):710-712. doi: 10.1212/WNL.0000000000006320. Epub 2018 Sep 14.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Video-Audio Media

MeSH terms

  • Acanthocytes* / metabolism
  • Aged
  • Chorea / genetics*
  • Chorea / physiopathology
  • Chorea / therapy
  • Female
  • Humans
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Phenotype
  • Psychotic Disorders / genetics*
  • Psychotic Disorders / physiopathology
  • Psychotic Disorders / therapy
  • Syndrome

Substances

  • ELAC2 protein, human
  • Neoplasm Proteins