title: Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: atypical molecular phenotype.
abstract: A case of sporadic Creutzfeldt-Jakob disease (sCJD) is described in a young Dutch protein prion gene (PRNP) codon 129 valine homozygote. Certain clinical and molecular features of this case overlap those of variant CJD. The case highlights possible difficulties in the differential diagnosis of vCJD and the more rare sCJD subtypes based on molecular features alone.
authors.affiliation: Department of Pathology, University of Edinburgh, Western General Hospital, UK. m.w.head@ed.ac.uk
authors.forename: M W
authors.initials: MW
authors.lastname: Head
authors.forename: G
authors.initials: G
authors.lastname: Tissingh
authors.forename: B M
authors.initials: BM
authors.lastname: Uitdehaag
authors.forename: F
authors.initials: F
authors.lastname: Barkhof
authors.forename: T J
authors.initials: TJ
authors.lastname: Bunn
authors.forename: J W
authors.initials: JW
authors.lastname: Ironside
authors.forename: W
authors.initials: W
authors.lastname: Kamphorst
authors.forename: P
authors.initials: P
authors.lastname: Scheltens
mesh_terms: D000328:Adult; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007150:Immunohistochemistry; D009426:Netherlands; D010641:Phenotype