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

• Published in: Annals of neurology Vol. 50; no. 2; pp. 258 - 261
• Main Authors: Head, Mark W., Tissingh, Gerrit, Uitdehaag, Bernard M. J., Barkhof, Frederik, Bunn, Tristan J. R., Ironside, James W., Kamphorst, Wouter, Scheltens, Philip
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01.08.2001; Willey-Liss
• Subjects: Adult; Biological and medical sciences; Creutzfeldt-Jakob Syndrome - genetics; Creutzfeldt-Jakob Syndrome - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Frontal Lobe - pathology; Homozygote; Humans; Immunohistochemistry; Medical sciences; Netherlands; Neurology; Phenotype; Netherlands; Human; Nervous system diseases; Pathophysiology; Sporadic; Homozygosity; Cerebral disorder; Infection; Case study; Phenotype; Valine; Central nervous system disease; Immunoblotting assay; Degenerative disease; Atypical; Prion; Creutzfeldt Jakob disease
• ISSN: 0364-5134; 1531-8249
• DOI: 10.1002/ana.1100

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.