Chorein detection for the diagnosis of chorea-acanthocytosis

Ann Neurol. 2004 Aug;56(2):299-302. doi: 10.1002/ana.20200.


Chorea-acanthocytosis (ChAc) is a severe, neurodegenerative disorder that shares clinical features with Huntington's disease and McLeod syndrome. It is caused by mutations in VPS13A, which encodes a large protein called chorein. Using antichorein antisera, we found expression of chorein in all human cells analyzed. However, chorein expression was absent or noticeably reduced in ChAc patient cells, but not McLeod syndrome and Huntington's disease cells. This suggests that loss of chorein expression is a diagnostic feature of ChAc.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acanthocytes / pathology*
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / metabolism
  • Blotting, Western / methods
  • Cell Line
  • Chorea / diagnosis*
  • Chorea / genetics
  • Chorea / pathology
  • DNA Mutational Analysis / methods
  • Erythrocyte Membrane / metabolism
  • Female
  • Gene Expression Regulation
  • Humans
  • Male
  • Mutation*
  • Proteins / analysis*
  • Proteins / genetics
  • Vesicular Transport Proteins


  • Proteins
  • VPS13A protein, human
  • Vesicular Transport Proteins