ALLELIC VARIATIONS IN APOLIPOPROTEIN-E AND PRION PROTEIN GENOTYPE RELATED TO PLAQUE-FORMATION AND AGE-OF-ONSET IN SPORADIC CREUTZFELDT-JAKOB-DISEASE

Prion gene sequence is thought to affect the phenotypic expression of prion disease and the E2 variant of apolipoprotein E (Ape E) can be ne uroprotective in dementia. We determined codon 129 of the prion gene a nd the Apo E variants in Creutzfeldt-Jakob disease (CJD) using PCR and restriction digest. We found a significant correlation between valine at codon 129 of the prion protein gene and the presence of plaque in CJD and a later age of onset in CJD cases possessing the Apo E2 allele . This study provides further evidence that sequence variations in the prion gene can modify disease pathology and the neuroprotection affor ded by Apo E2 is not confined to Alzheimer's disease.