Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: Atypical molecular phenotype
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...
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Published in | Annals of neurology Vol. 50; no. 2; pp. 258 - 261 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York
John Wiley & Sons, Inc
01.08.2001
Willey-Liss |
Subjects | |
Online Access | Get full text |
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Summary: | 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. |
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Bibliography: | Scottish Executive fund National CJD Surveillance Unit (NCJDSU) ark:/67375/WNG-1XXPFSF9-Z UK Department of Health ArticleID:ANA1100 istex:1629D22C03D286B4E09D959C2FC092B3C2A64815 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0364-5134 1531-8249 |
DOI: | 10.1002/ana.1100 |