NR ADCO
AU de Silva,R.N.; Ironside,J.W.; McCardle,L.; Esmonde,T.F.G.; Bell,J.; Will,R.; Windl,O.; Dempster,M.; Estibeiro,P.; Lathe,R.
TI Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease
QU Neuroscience Letters 1994 Sep 26; 179(1-2): 50-2
PT journal article
AB 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.
IN Mit Anti-Prionprotein-Antikörpern wurde festgestellt, dass bei nicht erblichen Formen der Creutzfeldt-Jakob-Krankheit das Prionproteinallel mit einem Valin an Position 129 überproportional häufig ist.
MH Aged; Aged, 80 and over; Amyloid/genetics/metabolism; Amyloidosis/pathology; Creutzfeldt-Jakob Syndrome/*genetics/metabolism/*pathology; DNA/analysis; Genotype; Human; Methionine/metabolism; Middle Age; Open Reading Frames; Phenotype; Polymerase Chain Reaction; Polymorphism (Genetics); Prions/*biosynthesis/genetics; Valine/metabolism
AD Rajith de Silva, James W Ironside, Linda McCardle, Thomas Esmonde, Jeanne Bell, Robert Will, National Creutzfeldt-Jakob disease surveillance unit, Western General Hospital, Crewe Rd, Edinburgh, Midlothian, Scotland, UK; Otto Windl, Maureen Dempster, Peter Estibeiro and Rick Lathe, AFRC Centre for Genome Research, University of Edinburgh, Kings Buildings, Edinburgh EH9 3JQ, UK
SP englisch
PO Irland