Fatal familial insomnia

Definition

Fatal familial insomnia (FFI) is a genetic prion disease caused by D178N-129M mutation (aspartate to asparagine at codon 178 on the allele with methionine at the codon 129 polymorphic site). FFI presents with insomnia, ataxia, dementia and akinetic mutism with neuropathology identical to that seen in thalamic sCJD.

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