FATAL FAMILIAL INSOMNIA - A 2ND KINDRED WITH MUTATION OF PRION PROTEIN GENE AT CODON-178

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.