title: Sporadic fatal insomnia: a case study.
abstract: A 58-year-old man died after a 27-month illness characterized by insomnia, confirmed by polysomnography. He was homozygous for methionine at codon 129 of the prion gene but had no mutation in the prion gene. Neuropathology showed thalamic and olivary atrophy and no spongiform changes. Paraffin-embedded tissue blotting demonstrated abnormal prion protein in the brain. This is the first case of the sporadic form of fatal familial insomnia with demonstration of the disorder by polysomnography.
authors.affiliation: Department of Neuropathology, Institute of Neurology, University College London, UK.
authors.forename: F
authors.initials: F
authors.lastname: Scaravilli
authors.forename: R J
authors.initials: RJ
authors.lastname: Cordery
authors.forename: H
authors.initials: H
authors.lastname: Kretzschmar
authors.forename: P
authors.initials: P
authors.lastname: Gambetti
authors.forename: B
authors.initials: B
authors.lastname: Brink
authors.forename: V
authors.initials: V
authors.lastname: Fritz
authors.forename: J
authors.initials: J
authors.lastname: Temlett
authors.forename: C
authors.initials: C
authors.lastname: Kaplan
authors.forename: D
authors.initials: D
authors.lastname: Fish
authors.forename: S F
authors.initials: SF
authors.lastname: An
authors.forename: W J
authors.initials: WJ
authors.lastname: Schulz-Schaeffer
authors.forename: M N
authors.initials: MN
authors.lastname: Rossor
mesh_terms: D006801:Humans; D008297:Male; D008875:Middle Aged; D017286:Polysomnography; D017096:Prion Diseases / Q000473:pathology / Q000503:physiopathology*; D013788:Thalamus / Q000473:pathology