Annals of Neurology · 2001 · 31 citations · 16 references
Life SciencesGeneticsNeurologyHuman GeneticsMedical GeneticsPrion DiseasesCreutzfeldt-jakob DiseaseGenetic DisordersNeurogenetic DisordersNeuropathology Of Prion DiseasePrion Protein MisfoldingRare Disease GeneticsCodon 129 PolymorphismDiagnosis Of Creutzfeldt-jakob DiseaseDifferential Diagnosis CriteriaGenetic Prion Protein MutationsPolymorphisms At Codon 129Sporadic Creutzfeldt-jakob Disease DiagnosisVariant Creutzfeldt-jakob Disease Diagnosis
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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A new variant of Creutzfeldt-Jakob disease in the UK
Robert Will, James W. Ironside, Martin Zeidler et al. · The Lancet · 1996 · 2.7K citations
Transmissions to mice indicate that ‘new variant’ CJD is caused by the BSE agent
M. E. Bruce, Robert Will, James W. Ironside et al. · Nature · 1997 · 2K citations
Molecular analysis of prion strain variation and the aetiology of 'new variant' CJD
John Collinge, Katie Sidle, Julie Meads et al. · Nature · 1996 · 1.7K citations