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

Mark W. Head; Gerrit Tissingh; Bernard M.J. Uitdehaag; Frederik Barkhof; Tristan J.R. Bunn; James W. Ironside; Wouter Kamphorst; Philip Scheltens

doi:https://doi.org/10.1002/ana.1100

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

Mark W. Head, Gerrit Tissingh, Bernard M.J. Uitdehaag, Frederik Barkhof, Tristan J.R. Bunn, James W. Ironside, Wouter Kamphorst, Philip Scheltens

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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 language	English
Pages (from-to)	258-261
Number of pages	4
Journal	Annals of neurology
Volume	50
Issue number	2
DOIs	https://doi.org/10.1002/ana.1100
Publication status	Published - 22 Aug 2001

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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.",

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AU - Tissingh, Gerrit

AU - Uitdehaag, Bernard M.J.

AU - Barkhof, Frederik

AU - Bunn, Tristan J.R.

AU - Ironside, James W.

AU - Kamphorst, Wouter

AU - Scheltens, Philip

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

Abstract

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