NR ACMQ
AU Chapman,J.C.; Cervenakova,L.; Petersen,R.B.; Lee,H.S.; Estupinan,J.; Richardson,S.; Vnencak-Jones,C.L.; Gajdusek,D.C.; Korczyn,A.D.; Brown,P.; Goldfarb,L.G.
TI APOE in non-Alzheimer amyloidoses: transmissible spongiform encephalopathies.
QU Neurology 1998 Aug; 51(2): 548-53
PT journal article
AB BACKGROUND: The APOE genotype has been shown to influence the risk of developing sporadic and familial AD. This effect is isoform-dependent, the APOE epsilon4 allele increasing susceptibility and the APOE epsilon2 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 the APOE alleles in patients with various forms of transmissible spongiform encephalopathies, or prion diseases, including sporadic and iatrogenic Creutzfeldt-Jakob disease; familial Creutzfeldt-Jakob disease associated with PRNP 178N/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 of APOE epsilon4 allele when compared with appropriate controls. CONCLUSION: Our results do not support the contention that the APOE epsilon4 allele is a risk factor for developing Creutzfeldt-Jakob disease or related disorders.
MH Alleles; Amyloidosis/*genetics; Apolipoproteins E/*genetics; Creutzfeldt-Jakob Syndrome/genetics; Genotype; Gerstmann-Sträussler-Scheinker Disease/genetics; Human; Iatrogenic Disease; Kuru/genetics; Mutation; Periodicity; Prion Diseases/*genetics; Risk Factors; Support, Non-U.S. Gov't
AD Clinical Neurogenetics Unit, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-4129, USA
SP englisch
PO USA