NR ABDR
AU Beck,J.A.; Mead,S.; Campbell,T.A.; Dickinson,A.; Wientjens,D.P.W.M.; Croes,E.A.; van Duijn,C.M.; Collinge,J.
TI Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia
QU Neurology 2001 Jul 24; 57(2): 354-6
PT journal article
AB 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.
MH Aged; Aged, 80 and over; Alleles; Amino Acid Sequence; Case Report; Creutzfeldt-Jakob Syndrome/*genetics; Female; *Gene Deletion; Human; Molecular Sequence Data; Prions/*genetics; Support, Non-U.S. Gov't; Tandem Repeat Sequences/*genetics
AD MRC Prion Unit, Department of Neurogenetics, Imperial College School of Medicine at St. Mary's, London, UK
SP englisch
PO USA