Two-octapeptide repeat deletion of the prion protein gene associated with a rapidly progressive dementia
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.
|Keywords||*Gene Deletion, 0 (Prions), Aged, Aged, 80 and over, Alleles, Amino Acid Sequence, Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Syndrome/*genetics, Female, Human, Molecular Sequence Data, Prions/*genetics, Support, Non-U.S. Gov't, Tandem Repeat Sequences/*genetics|
Beck, J.A., Mead, S., Campbell, T.A., Dickinson, A., Wientjens, D.P.W.M., Croes, E.A., … Collinge, J.. (2001). Two-octapeptide repeat deletion of the prion protein gene associated with a rapidly progressive dementia. The Lancet Neurology, 57(2), 354–356. Retrieved from http://hdl.handle.net/1765/5874