Neurology · 1992 · 199 citations · 0 references
Life SciencesGeneticsNeurologyHuman GeneticsMedical GeneticsNeurogeneticsFamilial Prion DiseaseFatal Familial InsomniaGenetic DisordersNeurogenetic DisordersNeuropathology Of Prion DiseasePsychiatric GeneticsCodon 129 PolymorphismFamilial Prion Disease PhenotypesFamilial SyndromesFatal Familial Insomnia NeuropathologyGenetic Prion Protein MutationsHeterogeneityMutant Allele DisruptionPolymorphisms At Codon 129
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.