title: Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.
abstract: A case of familial Creutzfeldt-Jakob disease associated with a 144 base pair insertion in the open reading frame of the prion protein gene is described. Sequencing of the mutated allele showed an arrangement of six octapeptide repeats, distinct from that of a recently described British family with an insertion of similar size. Thirteen years previously the brother of the proband had died from "Huntington's disease", but re-examination of his neuropathology revealed spongiform encephalopathy and anti-prion protein immunocytochemistry gave a positive result. The independent evolution of at least two distinct pathological 144 base pair insertions in Britain is proposed. The importance of maintaining a high index of suspicion of inherited Creutzfeldt-Jakob disease in cases of familial neurodegenerative disease is stressed.
authors: North Manchester General Hospital, Crumpsall, UK.
authors: D
authors: D
authors: Nicholl
authors: O
authors: O
authors: Windl
authors: R
authors: R
authors: de Silva
authors: S
authors: S
authors: Sawcer
authors: M
authors: M
authors: Dempster
authors: J W
authors: JW
authors: Ironside
authors: J P
authors: JP
authors: Estibeiro
authors: G M
authors: GM
authors: Yuill
authors: R
authors: R
authors: Lathe
authors: R G
authors: RG
authors: Will
mesh_terms: D001483:Base Sequence; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017931:DNA Primers; D004251:DNA Transposable Elements; D003937:Diagnosis, Differential; D015894:Genome, Human; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016296:Mutagenesis; D009778:Occipital Lobe / Q000503:physiopathology / Q000648:ultrastructure; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017096:Prion Diseases / Q000503:physiopathology; D011328:Prions / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D011699:Putamen / Q000503:physiopathology / Q000648:ultrastructure
chemical_list: D017931:DNA Primers; D004251:DNA Transposable Elements; D011328:Prions; D011506:Proteins