Inherited prion disease (PrP lysine 200) in Britain: two case reports
Related Experiment Video
Updated: Oct 23, 2026

Isolation of Soluble and Insoluble PrP Oligomers in the Normal Human Brain
Published on: October 3, 2012
J Collinge1, M S Palmer, T Campbell
1Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London.
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.
Related Concept Videos
Amyloid Fibrils
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...
Lysosomal Hydrolases
Subviral Agents
Rocky Mountain Spotted Fever
Rabies
Huntington Disease l: Introduction

