Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease

R de Silva; J W Ironside; L McCardle; T Esmonde; J Bell; R Will; O Windl; M Dempster; P Estibeiro; R Lathe

doi:10.1016/0304-3940(94)90932-6

Neuropathological phenotype and 'prion protein' genotype correlation in sporadic Creutzfeldt-Jakob disease

Neurosci Lett. 1994 Sep 26;179(1-2):50-2. doi: 10.1016/0304-3940(94)90932-6.

Authors

R de Silva¹, J W Ironside, L McCardle, T Esmonde, J Bell, R Will, O Windl, M Dempster, P Estibeiro, R Lathe

Affiliation

¹ National Creutzfeldt-Jakob disease surveillance unit, Western General Hospital, Edinburgh, UK.

PMID: 7845623
DOI: 10.1016/0304-3940(94)90932-6

Abstract

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.

MeSH terms

Aged
Aged, 80 and over
Amyloid / genetics
Amyloid / metabolism
Amyloidosis / pathology
Creutzfeldt-Jakob Syndrome / genetics*
Creutzfeldt-Jakob Syndrome / metabolism
Creutzfeldt-Jakob Syndrome / pathology*
DNA / analysis
Genotype
Humans
Methionine / metabolism
Middle Aged
Open Reading Frames
Phenotype
Polymerase Chain Reaction
Polymorphism, Genetic
Prions / biosynthesis*
Prions / genetics
Valine / metabolism

Substances

Amyloid
Prions
DNA
Methionine
Valine