NR AIGG
AU Medori,R.; Montagna,P.; Tritschler,H.J.; LeBlanc,A.; Cortelli,P.; Tinuper,P.; Lugaresi,E.; Gambetti,P.
TI Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
QU Neurology 1992 Mar; 42(3 Pt 1): 669-70
PT journal article
AB 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.
MH Base Sequence; Case Report; Codon; Human; Male; Middle Age; Molecular Sequence Data; *Mutation; Pedigree; PrPsc Proteins; Prions/analysis/*genetics; Sleep Initiation and Maintenance Disorders/*genetics; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.
AD Division of Neuropathology, Case Western Reserve University, Cleveland, OH.
SP englisch
PO USA