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Creutzfeldt–Jakob disease associated with a deletion of two repeats in the prion protein gene

From the Institute of Pathology and National Prion Disease Pathology Surveillance Center (Drs. Capellari, Parchi, Petersen, and Gambetti), Case Western Reserve University, Cleveland, OH; Naples Community Hospital (Drs. Wolff and Campbell), FL; University of California at Los Angeles (Dr. Atkinson); and Temple Community Hospital (Dr. Posey), Los Angeles, CA.

Address correspondence and reprint requests to Dr. Pierluigi Gambetti, Division of Neuropathology, Case Western Reserve University, 2085 Adelbert Road, Cleveland, OH 44106; e-mail: pxg13{at}po.cwru.edu

A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt–Jakob disease (CJD). The authors report a similar deletion in a patient with a definitive diagnosis of CJD. Since the two-repeat deletion has not been observed in large, population-based studies, the two cases suggest that this deletion is a new pathogenic mutation associated with CJD.

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