First experimental transmission of fatal familial insomnia

Jun Tateishi, Paul Brown, Tetsuyuki Kitamoto, Zahirul M. Hoque, Raymond Roos, Robert Wollman, Larisa Cervenáková, D. Carleton Gajdusek

Research output: Contribution to journalArticlepeer-review

125 Citations (Scopus)

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 brain2–4, and of a pathogenic single-allele mutation at codon 178 of the PRNP gene that encodes PrF68 (refs 2, 5). Here we report the successful transmission of the disease to experimental animals, placing FFI within the group of infectious cerebral amyloidoses.

Original languageEnglish
Pages (from-to)434-435
Number of pages2
JournalNature
Volume376
Issue number6539
DOIs
Publication statusPublished - 1995 Aug 3
Externally publishedYes

ASJC Scopus subject areas

  • General

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