title: First experimental transmission of fatal familial insomnia.
abstract: Originally described by Lugaresi et al. in 1986 (ref. 1), fatal familial insomnia (FFI) is a rare inherited neurological disease characterized by the subacute progression of intractable insomnia and other autonomic abnormalities, cerebellar and pyramidal signs, myoclonus and dementia; neuropathologically, the major feature is severe neuronal loss with associated gliosis in the ventral and mediodorsal thalamic nuclei. The disease has been related to the group of spongiform encephalopathies by virtue of the presence of low levels of proteinase-resistant amyloid protein (PrPres) in the brain, and of a pathogenic single-allele mutation at codon 178 of the PRNP gene that encodes PrPres (refs 2, 5). Here we report the successful transmission of the disease to experimental animals, placing FFI within the group of infectious cerebral amyloidoses.
authors.affiliation: Department of Neuropathology, Kyushu University, Fukuoka, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Tateishi
authors.forename: P
authors.initials: P
authors.lastname: Brown
authors.forename: T
authors.initials: T
authors.lastname: Kitamoto
authors.forename: Z M
authors.initials: ZM
authors.lastname: Hoque
authors.forename: R
authors.initials: R
authors.lastname: Roos
authors.forename: R
authors.initials: R
authors.lastname: Wollman
authors.forename: L
authors.initials: L
authors.lastname: Cervenáková
authors.forename: D C
authors.initials: DC
authors.lastname: Gajdusek
mesh_terms: D000686:Amyloidosis / Q000503:physiopathology; D000818:Animals; D005911:Gliosis / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D051379:Mice; D018620:PrPSc Proteins / Q000032:analysis; D017096:Prion Diseases / Q000145:classification / Q000473:pathology / Q000503:physiopathology / Q000635:transmission*; D007319:Sleep Initiation and Maintenance Disorders / Q000503:physiopathology; D013788:Thalamus / Q000473:pathology
chemical_list: D018620:PrPSc Proteins