NR ACUD
AU Collinge,J.; Palmer,M.S.; Campbell,T.A.; Sidle,K.C.L.; Carroll,D.; Harding,A.
TI Inherited prion disease (PrP lysine 200) in Britain: two case reports.
QU British Medical Journal 1993 Jan 30; 306(6873): 301-2
PT journal article
AB OBJECTIVE - To identify cases of inherited prion diseases in Britain and to assess their phenotypic features. DESIGN - Screening study of patients suspected clinically to have Creutzfeldt-Jakob disease and other neurodegenerative diseases by prion protein gene analysis. SETTING - Biochemical research department. SUBJECTS - Patients suspected to have Creutzfeldt-Jakob disease and other neurodegenerative diseases. RESULTS - Two patients with symptoms characteristic of sporadic Creutzfeldt-Jakob disease were found to have inherited prion protein disease (PrP lysine 200), with a mutation at codon 200 of the prion protein gene. Both were homozygous at codon 129 of the gene. One patient was a man aged 58 of British descent while the other was of Libyan Jewish origin. CONCLUSION - 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.
IN Bei einem 58-jährigen Mann britischer Abstammung und einem lybischen Juden ließ sich die Creutzfeldt-Jakob-Krankheit auf eine Mutation im Codon 200 des Priongenes zurückführen. Beide waren homozygot am Codon 129.
MH Case Report; Codon; Creutzfeldt-Jakob Syndrome/*genetics; Great Britain; Homozygote; Human; Jews; Libya/ethnology; Male; Middle Age; Mutation; Phenotype; Prions/*genetics; Support, Non-U.S. Gov't
AD Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London.
SP englisch
PO England