NR ACEO
AU Capellari,S.; Parchi,P.; Wolff,B.D.; Campbell,J.; Atkinson,R.; Posey,D.M.; Petersen,R.B.; Gambetti,P.
TI Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene
QU Neurology 2002 Nov 26; 59(10): 1628-30
PT journal article
AB 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.
MH Autopsy; Blotting, Western; Brain/pathology; Case Report; Creutzfeldt-Jakob Syndrome/*genetics/psychology; Electroencephalography; Gene Deletion; Head Injuries, Closed/pathology; Human; Immunohistochemistry; Magnetic Resonance Imaging; Male; Memory Disorders/etiology/pathology; Middle Age; Polymorphism (Genetics)/genetics; Prions/*genetics; Repetitive Sequences, Nucleic Acid/genetics; Support, Non-U.S. Gov't; Support, U.S. Gov't, P.H.S.; Tomography, X-Ray Computed
AD Institute of Pathology and National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, OH 44106, USA
SP englisch
PO USA