Dictionary of Human Evolution and Biology

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Creutzfeldt-Jakob Disease Or Syndrome, Familial

In humans, a slow but fatal heritable degenerative disease of brain tissue caused by two simultaneous conditions: mutation from aspartic acid to asparagine at position 178 in the prion protein, and methionine homozygosity at position 129. A related heritable condition, familial fatal insomnia (FFI), like CJD, is caused by valine homozygosity at position 129.

See Creutzfeldt-Jakob disease, new variant.

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