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→C 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→C mutation at codon 178 of the prion gene.
|Number of pages||2|
|Publication status||Published - 1992|
ASJC Scopus subject areas
- Arts and Humanities (miscellaneous)
- Clinical Neurology