Biofluid Biomarkers in Huntington's Disease

Methods Mol Biol. 2018:1780:329-396. doi: 10.1007/978-1-4939-7825-0_17.


Huntington's disease (HD) is a chronic progressive neurodegenerative condition where new markers of disease progression are needed. So far no disease-modifying interventions have been found, and few interventions have been proven to alleviate symptoms. This may be partially explained by the lack of reliable indicators of disease severity, progression, and phenotype.Biofluid biomarkers may bring advantages in addition to clinical measures, such as reliability, reproducibility, price, accuracy, and direct quantification of pathobiological processes at the molecular level; and in addition to empowering clinical trials, they have the potential to generate useful hypotheses for new drug development.In this chapter we review biofluid biomarker reports in HD, emphasizing those we feel are likely to be closest to clinical applicability.

Keywords: Biomarkers; Blood; Cerebrospinal fluid; Huntington’s disease; Review; Urine.

Publication types

  • Review

MeSH terms

  • Biomarkers / analysis
  • Body Fluids / chemistry*
  • Brain / cytology
  • Brain / metabolism
  • Brain / pathology
  • Drug Development
  • Humans
  • Huntingtin Protein / analysis*
  • Huntingtin Protein / genetics
  • Huntingtin Protein / metabolism
  • Huntington Disease / diagnosis*
  • Huntington Disease / genetics
  • Huntington Disease / pathology
  • Inflammation Mediators / analysis
  • Inflammation Mediators / metabolism
  • Neurons / pathology
  • Neurotransmitter Agents / analysis
  • Neurotransmitter Agents / metabolism
  • Oxidative Stress
  • Proteomics / instrumentation
  • Proteomics / methods
  • Transglutaminases / analysis
  • Transglutaminases / metabolism


  • Biomarkers
  • HTT protein, human
  • Huntingtin Protein
  • Inflammation Mediators
  • Neurotransmitter Agents
  • Transglutaminases