Sporadic Creutzfeldt‐Jakob disease in a young Dutch valine homozygote: Atypical molecular phenotype
- 30 July 2001
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 50 (2) , 258-261
- https://doi.org/10.1002/ana.1100
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.Keywords
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