NEUROPATHOLOGICAL PHENOTYPE AND PRION PROTEIN GENOTYPE CORRELATION INSPORADIC CREUTZFELDT-JAKOB-DISEASE

Authors
DESILVA R IRONSIDE JW MCCARDLE L ESMONDE T BELL J WILL R WINDL O DEMPSTER M ESTIBEIRO P LATHE R
Citation
R. Desilva et al., NEUROPATHOLOGICAL PHENOTYPE AND PRION PROTEIN GENOTYPE CORRELATION INSPORADIC CREUTZFELDT-JAKOB-DISEASE, Neuroscience letters, 179(1-2), 1994, pp. 50-52
Citations number
12
Categorie Soggetti
Neurosciences
Journal title
Neuroscience letters → ACNP
ISSN journal
03043940
Volume
179
Issue
1-2
Year of publication
1994
Pages
50 - 52
Database
ISI
SICI code
0304-3940(1994)179:1-2<50:NPAPPG>2.0.ZU;2-F
Abstract
A systematic study of 'prion protein' genotype in cases of sporadic Cr eutzfeldt-Jakob disease showing amyloid plaques staining with anti-pri on protein antibody has been performed. This revealed a relative exces s of cases with valine at position 129 of the gene's open reading fram e. The observation emphasises the importance of this site of common po lymorphism in influencing the neuropathological phenotype in human spo ngiform encephalopathy.