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Article

Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.

Neurology - 1 Mar 1992

Medori R, Montagna P, Tritschler H J, LeBlanc A, Cortelli P, Tinuper P, Lugaresi E, Gambetti P

Abstract excerpt

Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC----AAC mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kindred affected by FFI and carrying the same mutation. The finding of the same disease phenotype and genotype in a second...

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Identifiers

PMID: 1347910
DOI: 10.1212/wnl.42.3.669

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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