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

M W Head, G Tissingh, B M Uitdehaag, F Barkhof, T J Bunn, J W Ironside, W Kamphorst, P Scheltens

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)258-61
Number of pages4
JournalAnnals of Neurology
Volume50
Issue number2
Publication statusPublished - 2001

Keywords

  • Adult
  • Creutzfeldt-Jakob Syndrome
  • Female
  • Frontal Lobe
  • Homozygote
  • Humans
  • Immunohistochemistry
  • Netherlands
  • Phenotype

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