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.

journal_name

Nature

journal_title

Nature

authors

Tateishi J,Brown P,Kitamoto T,Hoque ZM,Roos R,Wollman R,Cervenáková L,Gajdusek DC

doi

10.1038/376434a0

subject

Has Abstract

pub_date

1995-08-03 00:00:00

pages

434-5

issue

6539

eissn

0028-0836

issn

1476-4687

journal_volume

376

pub_type

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