Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
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Medori R, Montagna P, Tritschler HJ, LeBlanc A, Cortelli P, Tinuper P, Lugaresi E, Gambetti P
Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
Neurology. 1992 Mar;42(3 Pt 1):669-70.
- PubMed ID
- 1347910 [ View in PubMed]
- Abstract
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 family further validates FFI as a distinct disease entity and a phenotype of the GAC----AAC mutation at codon 178 of the prion gene.