title: Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia.
abstract: Insertions of integral numbers of an octapeptide repeat in the prion protein gene are pathogenic mutations associated with inherited prion diseases. Conversely, deletions of a single octapeptide repeat are found as normal polymorphisms in many populations and do not predispose individuals to prion disease. The authors report a two-octapeptide repeat deletion in an elderly woman with a rapidly progressive dementia consistent with Creutzfeldt-Jakob disease. This mutation was absent from more than 3,000 individuals and may be causally related to prion disease and represent a novel disease mechanism.
authors.affiliation: MRC Prion Unit, Department of Neurogenetics, Imperial College School of Medicine at St. Mary's, London, UK.
authors.forename: J A
authors.initials: JA
authors.lastname: Beck
authors.forename: S
authors.initials: S
authors.lastname: Mead
authors.forename: T A
authors.initials: TA
authors.lastname: Campbell
authors.forename: A
authors.initials: A
authors.lastname: Dickinson
authors.forename: D P
authors.initials: DP
authors.lastname: Wientjens
authors.forename: E A
authors.initials: EA
authors.lastname: Croes
authors.forename: C M
authors.initials: CM
authors.lastname: Van Duijn
authors.forename: J
authors.initials: J
authors.lastname: Collinge
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000595:Amino Acid Sequence; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008969:Molecular Sequence Data; D011328:Prions / Q000235:genetics*; D020080:Tandem Repeat Sequences / Q000235:genetics*
chemical_list: D011328:Prions