Gene expression changes in blood as a putative biomarker for Huntington's disease

Mov Disord. 2009 Nov 15;24(15):2277-81. doi: 10.1002/mds.22477.


Several studies demonstrated alterations of gene expression in blood in various neurological disorders including Huntington's disease (HD). Using microarray technology, a recent study identified a large number of significantly altered mRNAs in HD blood, from which a 12-gene set was selected as classifier for discriminating controls and HD patients. The aim of our study was to validate expression changes of these 12 genes in an independent cohort of HD patients and evaluate their sensitivity and specificity. Four different subject groups were included--patients with HD, Parkinson's disease (PD), acute ischemic stroke (AS) and healthy controls. Although the previous results were successfully validated, gene expression changes in HD blood partly overlapped with those observed in blood from PD and AS patients. Predictive value of the selected biomarker set for HD group was 78%, with 82% sensitivity and 53% specificity. Further gene expression analyses in longitudinal studies are needed to validate and refine possible transcriptomic blood biomarkers in HD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Artificial Intelligence
  • Cohort Studies
  • Female
  • Gene Expression / physiology*
  • Gene Expression Profiling
  • Humans
  • Huntington Disease* / blood
  • Huntington Disease* / genetics
  • Huntington Disease* / physiopathology
  • Male
  • Middle Aged
  • Multivariate Analysis
  • Oligonucleotide Array Sequence Analysis
  • Parkinson Disease / blood
  • Parkinson Disease / genetics
  • Parkinson Disease / physiopathology
  • RNA, Messenger
  • Stroke / blood
  • Trinucleotide Repeat Expansion / genetics*


  • RNA, Messenger