title: Creutzfeldt-Jakob disease associated with a deletion of two repeats in the prion protein gene.
abstract: 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.
authors.affiliation: Institute of Pathology and National Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, OH 44106, USA.
authors.forename: S
authors.initials: S
authors.lastname: Capellari
authors.forename: P
authors.initials: P
authors.lastname: Parchi
authors.forename: B D
authors.initials: BD
authors.lastname: Wolff
authors.forename: J
authors.initials: J
authors.lastname: Campbell
authors.forename: R
authors.initials: R
authors.lastname: Atkinson
authors.forename: D M
authors.initials: DM
authors.lastname: Posey
authors.forename: R B
authors.initials: RB
authors.lastname: Petersen
authors.forename: P
authors.initials: P
authors.lastname: Gambetti
mesh_terms: D001344:Autopsy; D015153:Blotting, Western; D001921:Brain / Q000473:pathology; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics* / Q000523:psychology; D004569:Electroencephalography; D017353:Gene Deletion; D016489:Head Injuries, Closed / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008279:Magnetic Resonance Imaging; D008297:Male; D008569:Memory Disorders / Q000209:etiology / Q000473:pathology; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics; D011328:Prions / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D011328:Prions