NR AFGI
AU Head,M.W.; Tissingh,G.; Uitdehaag,B.M.J.; Barkhof,F.; Bunn,T.J.R.; Ironside,J.W.; Kamphorst,W.; Scheltens,P.
TI Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: atypical molecular phenotype.
QU Annals of Neurology 2001 Aug; 50(2): 258-61
PT journal article
AB 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.
MH Adult; Case Report; Creutzfeldt-Jakob Syndrome/*genetics/*pathology; Female; Frontal Lobe/pathology; Homozygote; Human; Immunohistochemistry; Netherlands; Phenotype; Support, Non-U.S. Gov't
AD Department of Pathology, University of Edinburgh, Western General Hospital, UK. m.w.head@ed.ac.uk
SP englisch
PO USA