Chorein detection for the diagnosis of chorea-acanthocytosis

Carol Dobson-Stone, Antonio Velayos-Baeza, Lea A Filippone, Sarah Westbury, Alexander Storch, Torsten Erdmann, Stephen J Wroe, Klaus L Leenders, Anthony E Lang, Maria Teresa Dotti, Antonio Federico, Saidi A Mohiddin, Lameh Fananapazir, Geoff Daniels, Adrian Danek, Anthony P Monaco

Research output: Contribution to journalArticle (Academic Journal)peer-review

105 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)299-302
Number of pages4
JournalAnnals of Neurology
Volume56
Issue number2
DOIs
Publication statusPublished - Aug 2004

Keywords

  • Acanthocytes
  • Adrenoleukodystrophy
  • Blotting, Western
  • Cell Line
  • Chorea
  • DNA Mutational Analysis
  • Erythrocyte Membrane
  • Female
  • Gene Expression Regulation
  • Humans
  • Male
  • Mutation
  • Proteins
  • Vesicular Transport Proteins

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