Fatal familial insomnia: a second 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.
Division of Neuropathology, Case Western Reserve University, Cleveland, OH.
R
R
Medori
P
P
Montagna
H J
HJ
Tritschler
A
A
LeBlanc
P
P
Cortelli
P
P
Tinuper
E
E
Lugaresi
P
P
Gambetti
D001483:Base Sequence; D003062:Codon; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D018620:PrPSc Proteins; D011328:Prions / Q000032:analysis / Q000235:genetics*; D007319:Sleep Initiation and Maintenance Disorders / Q000235:genetics*
D003062:Codon; D018620:PrPSc Proteins; D011328:Prions