Huntington disease: pathogenesis and treatment

Neurol Clin. 2015 Feb;33(1):101-14. doi: 10.1016/j.ncl.2014.09.003.


Huntington disease (HD) is an autosomal dominant inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, culminating in death. It is caused by an expanded CAG repeat in the huntingtin gene. Even years before symptoms become overt, mutation carriers show subtle but progressive striatal and cerebral white matter atrophy by volumetric MRI. Although there is currently no direct treatment of HD, management options are available for several symptoms. A better understanding of HD pathogenesis, and more sophisticated clinical trials using newer biomarkers, may lead to meaningful treatments. This article reviews the current knowledge of HD pathogenesis and treatment.

Keywords: Chorea; Huntingtin; Huntington; Neurodegeneration; Pathogenesis; Polyglutamine; Striatum; Treatment.

Publication types

  • Review

MeSH terms

  • Humans
  • Huntingtin Protein
  • Huntington Disease* / genetics
  • Huntington Disease* / pathology
  • Huntington Disease* / therapy
  • Magnetic Resonance Imaging
  • Nerve Tissue Proteins / genetics
  • Trinucleotide Repeats / genetics


  • HTT protein, human
  • Huntingtin Protein
  • Nerve Tissue Proteins