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Inherited Prion Disease (PrP lysine 200) in Britain:Two Case Reports
BMJ 306:301-302, 2881993., Collinge,J.,et al, 1993
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Article Abstract
Two patients with symptoms characteristic of sporadic Creutzfeldt-Jakob disease were found to have inherited prion protein disease(PrP lysine 200),with a mutation of codon 200 of the prior protein gene.Both were homozygous at codon 129 of the gene.One patient was a man aged 58 of British descent while toe other was of Libyan Jewish origin.Two foci of inherited prion disease are known,among Libyan Jews and in Slovakia.A separate British focus of the disease may also exist.Heterozygosity at codon 129 may lead to reduced penetrance of the mutation.
 
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dementia
dementia,presenile
Jakob-Creutzfeldt disease
polymerase chain reaction
prion disease

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