Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease.
A systematic study of 'prion protein' genotype in cases of sporadic Creutzfeldt-Jakob disease showing amyloid plaques staining with anti-prion protein antibody has been performed. This revealed a relative excess of cases with valine at position 129 of the gene's open reading frame. The observation emphasises the importance of this site of common polymorphism in influencing the neuropathological phenotype in human spongiform encephalopathy.
National Creutzfeldt-Jakob disease surveillance unit, Western General Hospital, Edinburgh, UK.
R
R
de Silva
J W
JW
Ironside
L
L
McCardle
T
T
Esmonde
J
J
Bell
R
R
Will
O
O
Windl
M
M
Dempster
P
P
Estibeiro
R
R
Lathe
D000368:Aged; D000369:Aged, 80 and over; D000682:Amyloid / Q000235:genetics / Q000378:metabolism; D000686:Amyloidosis / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D004247:DNA / Q000032:analysis; D005838:Genotype; D006801:Humans; D008715:Methionine / Q000378:metabolism; D008875:Middle Aged; D016366:Open Reading Frames; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011328:Prions / Q000096:biosynthesis* / Q000235:genetics; D014633:Valine / Q000378:metabolism
D000682:Amyloid; D011328:Prions; D004247:DNA; D008715:Methionine; D014633:Valine