Inherited prion disease (PrP lysine 200) in Britain: two case reports

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 d...

Full description

Saved in:
Bibliographic Details
Published in:BMJ 1993-01, Vol.306 (6873), p.301-302
Main Authors: Collinge, J, Palmer, M S, Campbell, T, Sidle, K C, Carroll, D, Harding, A
Format: Article
Language:English
Subjects:
Codon
Codons
Creutzfeldt Jakob syndrome
Creutzfeldt-Jakob Syndrome - genetics
Dementia
Genetic inheritance
Genetic mutation
Genetic research
Genetics
Homozygote
Humans
Jews
Libya - ethnology
Male
Medical research
Middle Aged
Mutation
Nervous system diseases
Neurodegenerative diseases
Neurological disorders
Phenotype
Prion diseases
Prion Proteins
Prions
Prions - genetics
United Kingdom
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0959-8138
0959-8146
1468-5833
1756-1833
DOI:10.1136/bmj.306.6873.301