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.


METHODS
Screening study of patients suspected clinically to have Creutzfeldt-Jakob disease and other neurodegenerative diseases by prion protein gene analysis.


METHODS
Biochemical research department.


METHODS
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.


CONCLUSIONS
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.
Collinge
J
J
Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London.
Palmer
M S
MS
Campbell
T
T
Sidle
K C
KC
Carroll
D
D
Harding
A
A
D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007585:Jews; D008002:Libya / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D006113:United Kingdom
D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions