APOEin non-Alzheimer amyloidoses

Abstract

Background:TheAPOEgenotype has been shown to influence the risk of developing sporadic and familial AD. This effect is isoform-dependent, theAPOEϵ4 allele increasing susceptibility and theAPOEϵ2 allele providing protection. Amyloid formation is an important part of the pathogenesis in AD as well as in spongiform encephalopathies; apoE deposition in amyloid plaques has been documented in both conditions.Methods:We examined the frequency of theAPOEalleles in patients with various of transmissible spongiform encephalopathies, or prion diseases, including sporadic and iatrogenic Creutzfeldt-Jakob disease; familial Creutzfeldt-Jakob disease associated withPRNP178N/129V and 200K/129M point mutations and a 24-nucleotide repeat expansion; fatal familial insomnia caused by the 178N/129M mutation; Gerstmann-Sträussler-Scheinker disease associated with 102L/129M mutation; and kuru.Results:None of the groups we studied had a significant excess ofAPOEϵ4 allele when compared with appropriate controls.Conclusions:Our results do not support the contention that theAPOEϵ4 allele is a risk factor for developing Creutzfeldt-Jakob disease or related disorders.