title: An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.
abstract: In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.
authors.affiliation: Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, U.K.
authors.forename: F
authors.initials: F
authors.lastname: Owen
authors.forename: M
authors.initials: M
authors.lastname: Poulter
authors.forename: T
authors.initials: T
authors.lastname: Shah
authors.forename: J
authors.initials: J
authors.lastname: Collinge
authors.forename: R
authors.initials: R
authors.lastname: Lofthouse
authors.forename: H
authors.initials: H
authors.lastname: Baker
authors.forename: R
authors.initials: R
authors.lastname: Ridley
authors.forename: J
authors.initials: J
authors.lastname: McVey
authors.forename: T J
authors.initials: TJ
authors.lastname: Crow
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D004251:DNA Transposable Elements; D006801:Humans; D008969:Molecular Sequence Data; D011328:Prions / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements; D011328:Prions