title: Initial diagnoses of patients ultimately diagnosed with prion disease.
abstract: BACKGROUND
  Prion diseases are rapidly progressive neurodegenerative diseases that frequently mimic other forms of dementia making them difficult to diagnose.
  
  
  OBJECTIVE
  To explore factors associated with the initial diagnoses of cases later determined to be caused by prion disease in an attempt to recognize key clinical variables that impact the timely diagnosis of prion disease.
  
  
  METHODS
  A retrospective chart review performed at Johns Hopkins Medicine and the Department of Veterans Affairs Health Care System (1995-2008) was conducted. Ninety-two subjects with definite or probable prion disease were included in the analyses. Demographic, clinical, diagnostic test results, neuropathologic, molecular, and genetic data were collected using a standardized instrument and compared between initial diagnosis groups.
  
  
  RESULTS
  Cases were separated into five broad categories pertaining to their initial diagnoses: prion disease, non-prion-related dementia, psychiatric disorder, stroke, and other. The majority of cases did not receive an initial diagnosis of prion disease (n = 76, 83%). The plurality of subjects received an initial diagnosis of a non-prion disease related dementia (n = 33, 36%). Mean survival times varied between initial diagnosis groups (p = 0.042). Times to cerebrospinal fluid 14-3-3 analysis and electroencephalogram also differed between initial diagnosis groups.
  
  
  CONCLUSIONS
  Most patients with prion disease are initially diagnosed with a non-prion disease related dementia. Several clinical features were associated with initial diagnoses including survival time, onset of specific symptoms, and times to 14-3-3 analyses and electroencephalogram. Expanding our knowledge of the various clinical presentations of prion disease, especially dementia, may aid in the earlier diagnoses of these rapidly progressive diseases.
authors.affiliation: Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA Division of Geriatric Psychiatry and Neuropsychiatry, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Brian S
authors.initials: BS
authors.lastname: Appleby
authors.affiliation: School of Arts and Sciences, Advanced Academic, Programs, Biotechnology Studies, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Tonya D
authors.initials: TD
authors.lastname: Rincon-Beardsley
authors.affiliation: Cleveland Clinic Center for Regional Neurology, Cleveland, OH, USA Veterans Affairs Healthcare System, Department of Neurology, Washington, DC, USA.
authors.forename: Kristin K
authors.initials: KK
authors.lastname: Appleby
authors.affiliation: Division of Neuropathology, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: Barbara J
authors.initials: BJ
authors.lastname: Crain
authors.affiliation: Veterans Affairs Healthcare System, Department of Neurology, Washington, DC, USA Department of Neurology, Georgetown University Hospital, Washington, DC, USA.
authors.forename: Mitchell T
authors.initials: MT
authors.lastname: Wallin
mesh_terms: D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017096:Prion Diseases / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000401:mortality / Q000503:physiopathology; D011328:Prions / Q000378:metabolism; D012189:Retrospective Studies
chemical_list: D048948:14-3-3 Proteins; D011328:Prions
keywords: Creutzfeldt-Jakob disease; Creutzfeldt-Jakob syndrome; Gerstmann-Straussler-Scheinker Disease; dementia; diagnosis; diagnostic errors; fatal familial insomnia; mean survival time; phenotype; prion diseases; sporadic