|
|
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 Cag-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 CAG-AAC mutation at codon 178 of the prion gene. |
|