title: Clinical and neuroimaging characteristics of 14 patients with prionopathy: a descriptive study.
abstract: BACKGROUND
  Prionopathy is the cause of 62% of the rapidly progressive dementias (RPD) in which a definitive diagnosis is reached. The variability of symptoms and signs exhibited by the patients, as well as its different presentation, sometimes makes an early diagnosis difficult.
  
  
  METHODS
  Patients withdiagnosis of definite or probable prionopathy during the period 1999-2012 at our hospital were retrospectively reviewed.The clinical features and the results of the complementary tests (14-3-3 protein, EEG, MRI, FDG-PET, and genetic analysis) were evaluated in order to identify some factors that may enable an earlier diagnosis to be made.
  
  
  RESULTS
  A total of 14 patients are described: 6 with definite sporadic Creutzfeldt-Jakob (sCJD) disease, 3 with probable sCJD, 4 with fatal familial insomnia, and 1 with the new variant. The median age at diagnosis was 54 years old. The mean survival was 9.5 months. Mood disorder was the most common feature, followed by instability and cognitive impairment. 14-3-3 protein content in the cerebrospinal fluid was positive in 7 of 11 patients, and the EEG showed typical signs in 2 of 12 patients. Neuroimaging (FDG-PET, MRI) studies suggested the diagnosis in 13 of the 14 patients included.
  
  
  CONCLUSIONS
  Most patients presenting with RPD suffer from a prion disease. In our series the most useful complementary tests were MRI and FDG-PET, being positive in 13 of the 14 patients studied.
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España; Laboratorio de Neurogenética, Neurociencias, Centro de Investigación Médica Aplicada, Universidad de Navarra, Pamplona, Navarra, España. Electronic address: sortegac@unav.es.
authors.forename: S
authors.initials: S
authors.lastname: Ortega-Cubero
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: I
authors.initials: I
authors.lastname: Pagola
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: M R
authors.initials: MR
authors.lastname: Luquin
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: C
authors.initials: C
authors.lastname: Viteri
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España; Laboratorio de Neurogenética, Neurociencias, Centro de Investigación Médica Aplicada, Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: P
authors.initials: P
authors.lastname: Pastor
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: J
authors.initials: J
authors.lastname: Gállego Pérez-Larraya
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: P
authors.initials: P
authors.lastname: de Castro
authors.affiliation: Laboratorio de Neurogenética, Neurociencias, Centro de Investigación Médica Aplicada, Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: I
authors.initials: I
authors.lastname: Domínguez
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: P
authors.initials: P
authors.lastname: Irimia
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: E
authors.initials: E
authors.lastname: Martínez-Vila
authors.affiliation: Servicio de Medicina Nuclear, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: J
authors.initials: J
authors.lastname: Arbizu
authors.affiliation: Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
authors.forename: M
authors.initials: M
authors.lastname: Riverol
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis*; D003704:Dementia / Q000209:etiology; D003937:Diagnosis, Differential; D038524:Diffusion Magnetic Resonance Imaging; D005260:Female; D019788:Fluorodeoxyglucose F18; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D059906:Neuroimaging; D049268:Positron-Emission Tomography; D012189:Retrospective Studies; D012680:Sensitivity and Specificity
chemical_list: D019788:Fluorodeoxyglucose F18
keywords: Creutzfeldt-Jakob; Demencia rápidamente progresiva; Diagnosis; Diagnóstico; Magnetic resonance imaging; Positron emission computed tomography; Prion; Prión; Rapidly progressive dementia; Resonancia magnética; Tomografía por emisión de positrones