title: Familial Creutzfeldt-Jakob disease in a patient carrying both a presenilin 1 missense substitution and a prion protein gene insertion.
abstract: We describe a patient who was clinically diagnosed with familial early-onset Alzheimer disease (AD) carrying both the E318G substitution in presenilin 1 (PSEN1) and an insertion of 7 octapeptide coding repeats in the prion protein gene (PRNP). Neuropathological examination revealed elongated cerebellar prion protein deposits in the absence of AD pathology. Further analysis of other family members showed that the Creutzfeldt-Jakob disease phenotype in this family was caused solely by the PRNP insertion. This observation is consistent with our previous finding that PSEN1 E318G is not causally related to AD.
authors.affiliation: Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology, Born Bunge Foundation, University of Antwerp, Belgium.
authors.forename: B
authors.initials: B
authors.lastname: Dermaut
authors.forename: M
authors.initials: M
authors.lastname: Cruts
authors.forename: H
authors.initials: H
authors.lastname: Backhovens
authors.forename: U
authors.initials: U
authors.lastname: Lübke
authors.forename: B
authors.initials: B
authors.lastname: Van Everbroeck
authors.forename: R
authors.initials: R
authors.lastname: Sciot
authors.forename: R
authors.initials: R
authors.lastname: Dom
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: P
authors.initials: P
authors.lastname: Cras
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001921:Brain / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology; D004251:DNA Transposable Elements; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008578:Meninges / Q000473:pathology; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D053764:Presenilin-1; D011328:Prions / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D011328:Prions