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

Authors
Head, MW Tissingh, G Uitdehaag, BMJ Barkhof, F Bunn, TJR Ironside, JW Kamphorst, W Scheltens, P
Citation
Mw. Head et al., Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: Atypical molecular phenotype, ANN NEUROL, 50(2), 2001, pp. 258-261
Citations number
19
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
ANNALS OF NEUROLOGY
ISSN journal
03645134 → ACNP
Volume
50
Issue
2
Year of publication
2001
Pages
258 - 261
Database
ISI
SICI code
0364-5134(200108)50:2<258:SCDIAY>2.0.ZU;2-S
Abstract
A case of sporadic Creutzfeldt-Jakob disease (sCJD) is described in a young Dutch protein prion gene (PRNP) codon 129 valine homozygote. Certain clini cal and molecular features of this case overlap those,of variant CJD. The c ase highlights possible difficulties in the differential diagnosis of vCJD and the more rare sCJD subtypes based on molecular features alone.