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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.

Original publication

DOI

10.1212/wnl.57.2.354

Type

Journal article

Journal

Neurology

Publication Date

07/2001

Volume

57

Pages

354 - 356

Addresses

MRC Prion Unit, Department of Neurogenetics, Imperial College School of Medicine at St. Mary's, London, UK.

Keywords

Humans, Creutzfeldt-Jakob Syndrome, Prions, Gene Deletion, Amino Acid Sequence, Tandem Repeat Sequences, Alleles, Molecular Sequence Data, Aged, Aged, 80 and over, Female