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NEUROLOGY 2003;61:1288-1291
© 2003 American Academy of Neurology
Brief Communications

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

V. Pietrini, MD, G. Puoti, MD, L. Limido, PhD, G. Rossi, PhD, G. Di Fede, MD, G. Giaccone, MD, M. Mangieri, VD, F. Tedeschi, MD, A. Bondavalli, DBS, D. Mancia, MD, O. Bugiani, MD and F. Tagliavini, MD

From the Department of Neuroscience, Institute of Neurology (Drs. Pietrini, Bondavalli, and Mancia), and Department of Pathology and Laboratory Medicine, Institute of Pathology (Dr. Tedeschi), University of Parma; and Istituto Nazionale Neurologico Carlo Besta (Drs. Puoti, Limido, Rossi, Di Fede, Giaccone, Mangieri, Bugiani, and Tagliavini), Milan, Italy.

Address correspondence and reprint requests to Dr. Vladimiro Pietrini, Department of Neuroscience, Institute of Neurology, University of Parma, Via del Quartiere 4, 43100, Parma, Italy; e-mail: vladimiro.pietrini{at}unipr.it

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.

Received February 4, 2003. Accepted in final form July 18, 2003.




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