Huntington's disease

Huntington's disease


Huntington's disease is an inherited neurodegenerative condition. It is a progressive and incurable condition that typically results in death 20 years after the initial symptoms develop.

Genetics
  • autosomal dominant
  • trinucleotide repeat disorder: repeat expansion of CAG
  • results in degeneration of cholinergic and GABAergic neurons in the striatum of the basal ganglia
  • due to defect in huntingtin gene on chromosome 4

Features typical develop after 35 years of age
  • chorea
  • personality changes (e.g. irritability, apathy, depression) and intellectual impairment
  • dystonia
  • saccadic eye movements