Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation

Parkinsonism Relat Disord. 2013 Oct;19(10):913-5. doi: 10.1016/j.parkreldis.2013.05.012. Epub 2013 Jun 5.
No abstract available

Keywords: Acanthocytes; Chorea; Chorein; Choreoacanthocytosis; Eye.

Publication types

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

MeSH terms

  • Abetalipoproteinemia / complications*
  • Abetalipoproteinemia / genetics*
  • Adult
  • Asian People
  • Cataract / etiology
  • Chorea / complications*
  • Chorea / genetics*
  • DNA / genetics
  • Eye Diseases / etiology*
  • Eye Diseases / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics
  • Polymerase Chain Reaction
  • RNA, Messenger / biosynthesis
  • RNA, Messenger / blood
  • RNA, Messenger / genetics
  • Retinal Detachment / etiology
  • Siblings
  • Vesicular Transport Proteins / genetics*
  • Visual Acuity

Substances

  • RNA, Messenger
  • VPS13A protein, human
  • Vesicular Transport Proteins
  • DNA