Creutzfeldt-Jakob disease and kuru patients lack a mutation consistently found in the Gerstmann-Sträussler-Scheinker syndrome.
We and others have recently reported that patients with the Gerstmann-Sträussler-Scheinker syndrome have a mutation at codon 102 of the gene coding for amyloid protein that accumulates in this disease. We report here that this mutation was not found in 5 familial and 27 sporadic cases of Creutzfeldt-Jakob disease or in 3 patients with kuru, so that although this mutation may be responsible for amyloidogenesis and transmissibility in Gerstmann-Sträussler-Scheinker syndrome, it cannot be the only cause of human spongiform encephalopathy.
Goldfarb
L G
LG
Laboratory of CNS Studies, NINDS, NIH, Bethesda, Maryland 20892.
Brown
P
P
Goldgaber
D
D
Asher
D M
DM
Rubenstein
R
R
Brown
W T
WT
Piccardo
P
P
Kascsak
R J
RJ
Boellaard
J W
JW
Gajdusek
D C
DC
D001483:Base Sequence; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D006801:Humans; D007729:Kuru / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D015183:Restriction Mapping; D012897:Slow Virus Diseases / Q000235:genetics*