Development of biomarkers for Huntington's disease

Lancet Neurol. 2011 Jun;10(6):573-90. doi: 10.1016/S1474-4422(11)70070-9.


Huntington's disease is an autosomal dominant, progressive neurodegenerative disorder, for which there is no disease-modifying treatment. By use of predictive genetic testing, it is possible to identify individuals who carry the gene defect before the onset of symptoms, providing a window of opportunity for intervention aimed at preventing or delaying disease onset. However, without robust and practical measures of disease progression (ie, biomarkers), the efficacy of therapeutic interventions in this premanifest Huntington's disease population cannot be readily assessed. Current progress in the development of biomarkers might enable evaluation of disease progression in individuals at the premanifest stage of the disease; these biomarkers could be useful in defining endpoints in clinical trials in this population. Clinical, cognitive, neuroimaging, and biochemical biomarkers are being investigated for their potential in clinical use and their value in the development of future treatments for patients with Huntington's disease.

Publication types

  • Review

MeSH terms

  • Antioxidants / metabolism
  • Biomarkers / metabolism*
  • Brain / anatomy & histology
  • Brain / metabolism
  • Brain / pathology
  • Brain / physiopathology
  • Diagnostic Imaging / methods
  • Disease Progression
  • Endocrine System / physiology
  • Humans
  • Huntington Disease / diagnosis*
  • Huntington Disease / genetics
  • Huntington Disease / pathology
  • Huntington Disease / physiopathology
  • Magnetic Resonance Imaging
  • Oxidative Stress


  • Antioxidants
  • Biomarkers