title: A rare case of rapidly progressive dementia with elevated RT-QuIC and negative 14-3-3 and tau proteins.
abstract: Creutzfeldt-Jakob disease (CJD) is characterized by rapidly progressing dementia with death usually occurring within 6 months. There is no verified disease-specific pre-mortem diagnostic test besides brain biopsy. We describe a 66 y old previously high functioning male who presented with a 5 month history of rapidly progressive dementia. Neurological examination revealed a score of 19/30 on MOCA testing. An extensive workup into various causes of dementia including electroencephalography and imaging studies was unremarkable. The cerebrospinal fluid was sent to National Prion Disease Center and it revealed elevated RT-QuIC levels with negative 14-3-3 and T tau proteins. Based on literature review, our case is one of few living subjects with elevated RT-QuIC levels and negative 14-3-3 and tau proteins.
authors.affiliation: a Department of Neurology , Geisinger Medical Center , Danville , PA , USA;
authors.forename: Bhavesh
authors.initials: B
authors.lastname: Trikamji
authors.affiliation: b Department of Pathology , Case Western Reserve University , Cleveland , OH , USA;
authors.forename: Clive
authors.initials: C
authors.lastname: Hamlin
authors.affiliation: c Department of Neurology , Geisinger Medical Center , Danville , PA , USA.
authors.forename: Kelly J
authors.initials: KJ
authors.lastname: Baldwin
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid*; D000368:Aged; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid* / Q000473:pathology; D003704:Dementia / Q000134:cerebrospinal fluid* / Q000473:pathology; D018450:Disease Progression; D006801:Humans; D008297:Male; D011328:Prions / Q000134:cerebrospinal fluid*; D016875:tau Proteins / Q000134:cerebrospinal fluid*
chemical_list: D048948:14-3-3 Proteins; D011328:Prions; D016875:tau Proteins
keywords: Creutzfeldt-Jakob disease; RT-QuIC; dementia; prions; tau protein