title: Inherited prion disease (PrP lysine 200) in Britain: two case reports.
abstract: 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.
authors: Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London.
authors: J
authors: J
authors: Collinge
authors: M S
authors: MS
authors: Palmer
authors: T
authors: T
authors: Campbell
authors: K C
authors: KC
authors: Sidle
authors: D
authors: D
authors: Carroll
authors: A
authors: A
authors: Harding
mesh_terms: 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
chemical_list: D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions