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Letters to Nature
Nature 376, 434 - 435 (03 August 2002); doi:10.1038/376434a0

First experimental transmission of fatal familial insomnia

Jun Tateishi*, Paul Brown, Tetsuyuki Kitamoto*, Zahirul M. Hoque*, Raymond Roos§, Robert Wollman, Larisa Cervenàkovà  & D. Carleton Gajdusek

* Department of Neuropathology, Neurological Institute, Kyushu University, Fukuoka 812, Japan
Laboratory of CMS Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Mayland 20892, USA
Departments of Neurology § and Pathology, University of Chicago Medical Center, Chicago, Illinois 60637, USA

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 brain2á¤-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.

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