Scientific publications

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

Ortega-Cubero S (1), Pagola I (2), Luquin MR (2), Viteri C [SP] (2), Pastor P (3), Gállego Pérez-Larraya J [SP] (2), de Castro P (2), Domínguez I (4), Irimia P [SP] (2), Martínez-Vila E (2), Arbizu J [SP] (5), Riverol M [SP] (2).
(1) 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.
(2) Departamento de Neurología, Clínica Universidad de Navarra, Pamplona, Navarra, España.
(3) 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.
(4) Laboratorio de Neurogenética, Neurociencias, Centro de Investigación Médica Aplicada, Universidad de Navarra, Pamplona, Navarra, España.
(5) Servicio de Medicina Nuclear, Clínica Universidad de Navarra, Pamplona, Navarra, España.

Magazine: Neurología

Date: Apr 1, 2015

Nuclear Medicine [SP] Neurology [SP]

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.

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

you mayBE INTERESTED

WHAT TECHNOLOGY
DO WE USE?

The Clínica is the greater private hospital with technological equipment of Spain, all in a single center.

Imagen de un PET, tecnología de vanguardia en la Clínica Universidad de Navarra

OUR
PROFESSIONALS

The professionals of the Clínica perform continuous research and training, always to the benefit of the patient.

Imagen profesionales de la Clínica Universidad de Navarra

WHY CHOOSE
THE CLINICA?

Learn why we are different from other healthcare centers. Quality, speed, comfort and results.

Imagen del edificio de la Clínica Universidad de Navarra