Fatal familial insomnia

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Fatal familial insomnia (FFI) is a form of prion disease associated with a mutation of PRNP178 and methionine triplet at P129. Although spontaneous mutations of the gene on chromosome 20 are possible, it is characteristically familial with a poor prognosis once neurological manifestations occur in typically middle adult life. It was first described in 1986 and is characterised by[1]:

Genetic tests are diagnostic, but routine cranial MRI, EEGs, CSF examination tend to be normal. It has been reported that specifically due to the characteristic thalamic gliosis, MRI diffusion coefficient of water in the thalamus is abnormal[3].

  • Histology:
    • Low grade prion protein deposition typically hippocampus & thalamus
    • Thalamic gliosis
    • Spongiform changes especially hippocampus

References

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