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Neurologia. 2015 Apr;30(3):144-52. doi: 10.1016/j.nrl.2013.12.004. Epub 2014 Feb 26.

Clinical and neuroimaging characteristics of 14 patients with prionopathy: a descriptive study.

[Article in English, Spanish]

Author information

  • 1Departamento 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.
  • 2Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
  • 3Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España; Laboratorio de Neurogenética, Neurociencias, Centro de Investigación Médica Aplicada, Universidad de Navarra, Pamplona, Navarra, España.
  • 4Laboratorio de Neurogenética, Neurociencias, Centro de Investigación Médica Aplicada, Universidad de Navarra, Pamplona, Navarra, España.
  • 5Servicio de Medicina Nuclear, Clínica Universidad de Navarra, Pamplona, Navarra, España.

Abstract

INTRODUCTION:

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.

Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

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

PMID:
24581735
[PubMed - in process]
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