Huntington’s Chorea

• Autosomal dominant mutation on chromosome 4

• Onset at 20 – 50 YOA and both sexes equally affected

• Combination of choreiform movements (mostly of the arms) and progressive dementia

• Pathologic hallmark is atrophy of the caudate nucleus with a lesser degree of atrophy in the lentiform nuclei and the basal ganglia (small neurons in the caudate are affected the most and the earliest)

• Pathogenesis

  • The gene for the protein Huntingen contains CAG repeats; the longer the repeat, the worse the disease and the earlier the onset

  • Anticipation: if inherited the disease from dad, more likely to have a worse disease than your ancestors

  • The mechanism of cell death is unclear, but it is possibly related to excess excitotoxins (quinolinic acid)

Category: Pathology Notes