Huntington’s Chorea

on 28.1.09 with 0 comments

  • 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



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