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Brain Res Mol Brain Res. 1990 Apr;7(3):273-6.

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.

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Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, U.K.


In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.

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