Fatal familial insomnia
Fatal familial insomnia is a prion disease characterized by progressive loss of sleep, oneiric stupors with dream enactment, autonomic activation, and somatomotor abnormalities. Severe loss of thalamic neurons and gliosis is the pathological hallmark. It is ultimately fatal, with coma and akinetic mutism often preceding death. Patients carry a mutation at codon 178 of the prion protein gene, coupled with methionine at the polymorphic codon 129 in the mutated allele. Onset is typically in middle age, although earlier onset is possible.
Jan. 18, 2021