Alterations of striatal neurons in benign hereditary chorea

Mov Disord. 2005 Oct;20(10):1353-7. doi: 10.1002/mds.20577.

Abstract

Benign hereditary chorea (BHC) recently has been associated with mutations in TITF-1 gene, although a pathological study of an individual with BHC and a TITF-1 mutation revealed no significant gross or microscopic abnormalities using standard methods. Immunohistochemical staining of striatal tissue from a BHC-affected postmortem brain was performed using antibodies against neurotransmitters of interneurons whose tangential migration is mediated by TITF-1. There was a loss of most TITF-1-mediated striatal interneurons in the BHC specimen compared to four matched control brains.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Antibodies / immunology
  • Cell Movement
  • Chorea / genetics
  • Chorea / metabolism
  • Chorea / pathology*
  • Chromosomes, Human, Pair 14 / genetics
  • Corpus Striatum / metabolism
  • Corpus Striatum / pathology*
  • Fatal Outcome
  • Humans
  • Immunohistochemistry
  • Interneurons / immunology
  • Interneurons / metabolism
  • Interneurons / pathology
  • Middle Aged
  • Neurons / metabolism
  • Neurons / pathology*
  • Neurotransmitter Agents / immunology
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Point Mutation / genetics
  • Thyroid Nuclear Factor 1
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Antibodies
  • Neurotransmitter Agents
  • Nuclear Proteins
  • Thyroid Nuclear Factor 1
  • Transcription Factors