Case report
English
Collinge J, Palmer MS, Campbell T, Sidle KC, Carroll D, Harding A.
Department of Biochemistry and Molecular Genetics, St Mary’s Hospital Medical School, London.
BMJ. 1993 Jan 30;306(6873):301-2.
Abstract
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.
Keywords: Inherited prion disease (PrP lysine 200) in Britain: two case reports.
Link/DOI: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=8461647