Fluid and imaging biomarkers for Huntington's disease

Mol Cell Neurosci. 2019 Jun;97:67-80. doi: 10.1016/j.mcn.2019.02.004. Epub 2019 Feb 23.


Huntington's disease is a chronic progressive neurodegenerative condition for which there is no disease-modifying treatment. The known genetic cause of Huntington's disease makes it possible to identify individuals destined to develop the disease and instigate treatments before the onset of symptoms. Multiple trials are already underway that target the cause of HD, yet clinical measures are often insensitive to change over typical clinical trial duration. Robust biomarkers of drug target engagement, disease severity and progression are required to evaluate the efficacy of treatments and concerted efforts are underway to achieve this. Biofluid biomarkers have potential advantages of direct quantification of biological processes at the molecular level, whilst imaging biomarkers can quantify related changes at a structural level in the brain. The most robust biofluid and imaging biomarkers can offer complementary information, providing a more comprehensive evaluation of disease stage and progression to inform clinical trial design and endpoints.

Publication types

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

MeSH terms

  • Animals
  • Biomarkers / cerebrospinal fluid
  • Brain / diagnostic imaging*
  • Humans
  • Huntingtin Protein / cerebrospinal fluid*
  • Huntington Disease / cerebrospinal fluid*
  • Huntington Disease / diagnostic imaging*
  • Inflammation Mediators / cerebrospinal fluid*
  • Magnetic Resonance Imaging / methods*
  • Neurofilament Proteins / cerebrospinal fluid


  • Biomarkers
  • HTT protein, human
  • Huntingtin Protein
  • Inflammation Mediators
  • Neurofilament Proteins
  • neurofilament protein L