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.
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.
Authors: K Hsiao; Z Meiner; E Kahana; C Cass; I Kahana; D Avrahami; G Scarlato; O Abramsky; S B Prusiner; R Gabizon Journal: N Engl J Med Date: 1991-04-18 Impact factor: 91.245
Authors: K Hsiao; H F Baker; T J Crow; M Poulter; F Owen; J D Terwilliger; D Westaway; J Ott; S B Prusiner Journal: Nature Date: 1989-03-23 Impact factor: 49.962
Authors: H S Lee; N Sambuughin; L Cervenakova; J Chapman; M Pocchiari; S Litvak; H Y Qi; H Budka; T del Ser; H Furukawa; P Brown; D C Gajdusek; J C Long; A D Korczyn; L G Goldfarb Journal: Am J Hum Genet Date: 1999-04 Impact factor: 11.025
Authors: Emmanuel A Asante; Ian Gowland; Andrew Grimshaw; Jacqueline M Linehan; Michelle Smidak; Richard Houghton; Olufunmilayo Osiguwa; Andrew Tomlinson; Susan Joiner; Sebastian Brandner; Jonathan D F Wadsworth; John Collinge Journal: J Gen Virol Date: 2009-03 Impact factor: 3.891