title: An atypical case of sporadic fatal insomnia.
abstract: Fatal insomnia is a rare human prion disease characterised by sleep-wake disturbances, thalamic degeneration and deposition of type 2 disease-specific prion protein (PrP(Sc)). This report details a patient with sporadic fatal insomnia who exhibited cerebral deposition of type 1 PrP(Sc) and neuropathological changes largely in the basal ganglia. Previous damage of this brain region by a surgically removed colloid cyst and the insertion of two intracerebral shunts may have influenced the distribution of PrP(Sc) through a chronic inflammatory process. These findings add to our knowledge of the phenotypic variability of human prion diseases with prominent sleep disturbances.
authors.affiliation: Istituto Auxologico Italiano, Piancavallo, Verbania, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Priano
authors.forename: G
authors.initials: G
authors.lastname: Giaccone
authors.forename: M
authors.initials: M
authors.lastname: Mangieri
authors.forename: G
authors.initials: G
authors.lastname: Albani
authors.forename: L
authors.initials: L
authors.lastname: Limido
authors.forename: A
authors.initials: A
authors.lastname: Brioschi
authors.forename: L
authors.initials: L
authors.lastname: Pradotto
authors.forename: L
authors.initials: L
authors.lastname: Orsi
authors.forename: P
authors.initials: P
authors.lastname: Mortara
authors.forename: P
authors.initials: P
authors.lastname: Fociani
authors.forename: A
authors.initials: A
authors.lastname: Mauro
authors.forename: F
authors.initials: F
authors.lastname: Tagliavini
mesh_terms: D015153:Blotting, Western; D001921:Brain / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000473:pathology; D004569:Electroencephalography; D006801:Humans; D007150:Immunohistochemistry; D034062:Insomnia, Fatal Familial / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D019635:Neurosurgical Procedures; D018620:PrPSc Proteins / Q000235:genetics / Q000378:metabolism*; D014057:Tomography, X-Ray Computed
chemical_list: D018620:PrPSc Proteins