Two-octapeptide repeat deletion of prion protein associated with rapidly progressive dementia.
Beck, J.A. BSc; Mead, S. MRCP; Campbell, T.A. BSc; Dickinson, A. BSc; Wientjens, D.P.M.W. MD; Croes, E.A. MD; Van Duijn, C.M. PhD; Collinge, J. FRCP
57(2):354-356, July 24, 2001.
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Article 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.
(C) 2001 American Academy of Neurology