title: Creutzfeldt-Jakob disease in a Chinese patient with a novel seven extra-repeat insertion in PRNP.
abstract: Familial transmissible spongiform encephalopathies comprise about 14% of all cases of transmissible spongiform encephalopathy in humans. We report on a patient with a definite diagnosis of familial Creutzfeldt-Jakob disease with an insertional mutation consisting of seven extra octapeptide repeats between codons 51 and 91 in the PRNP gene, associated with a genotype homozygotic for methionine at codon 129 and a novel coding change of the inserted octapeptide region.
authors.affiliation: State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Prevention and Control, Chinese Center for Disease Control and Prevention, Beijing, China.
authors.forename: X F
authors.initials: XF
authors.lastname: Wang
authors.forename: Y J
authors.initials: YJ
authors.lastname: Guo
authors.forename: B Y
authors.initials: BY
authors.lastname: Zhang
authors.forename: W Q
authors.initials: WQ
authors.lastname: Zhao
authors.forename: J M
authors.initials: JM
authors.lastname: Gao
authors.forename: Y Z
authors.initials: YZ
authors.lastname: Wan
authors.forename: F
authors.initials: F
authors.lastname: Li
authors.forename: J
authors.initials: J
authors.lastname: Han
authors.forename: D X
authors.initials: DX
authors.lastname: Wang
authors.forename: X P
authors.initials: XP
authors.lastname: Dong