Introduction

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.

Epidemiology

  • Incidence: 0.70 cases per 100,000 person-years
  • Peak incidence: 40-50 years
  • Sex ratio: 1:1
<1 1-5 6+ 16+ 30+ 40+ 50+ 60+ 70+ 80+

Pathophysiology

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

Clinical features

Features typical develop after 35 years of age