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Neurology. 2003 Nov 11;61(9):1288-91.

Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene.

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Department of Neuroscience, Institute of Neurology, University of Parma, Italy.


The authors investigated two unrelated patients with Creutzfeldt-Jakob disease (CJD) with clinical features of sporadic CJD (sCJD) carrying one extra octapeptide repeat in the prion protein (PrP) gene (PRNP). A synaptic type PrP distribution throughout the cerebral gray matter and plaque-like PrP deposits in the subcortical gray structures were detected immunocytochemically. The different patterns of PrP deposition were associated with distinct types of protease-resistant PrP, similar to type 1 and type 2 of sCJD. The features suggest that this insertion is a pathogenic mutation.

[Indexed for MEDLINE]

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