Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: Atypical molecular phenotype

Mark W. Head*, Gerrit Tissingh, Bernard M.J. Uitdehaag, Frederik Barkhof, Tristan J.R. Bunn, James W. Ironside, Wouter Kamphorst, Philip Scheltens

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)258-261
Number of pages4
JournalAnnals of Neurology
Issue number2
Publication statusPublished - 22 Aug 2001

Cite this