Results 21 to 30 of about 180 (145)
21913 - ENFERMEDAD DE CREUTZFELDT-JAKOB: UN DEBUT SIN PISTAS
Neurology PerspectivesM. Molina Haro +5 more
doaj +2 more sources
Déficit de cianocobalamina que simula una enfermedad de Creutzfeldt-Jakob
Neurología, 2011 Payán Ortiz, M. +3 more
exaly +2 more sources
Un caso de enfermedad de Creutzfeldt-Jakob
Colombia Medica, 1979 Se presenta el primer caso de enfermedad de Creutzfeldt-Jakob en Cali, Colombia. Dado el riesgo de contaminación hospitalaria se recomienda revisar la literatura reciente al respecto. Se describen los hallazgos clásico del EEG.
Vladimir Zaninovic, Álvaro Dueñas
openaire +1 more source
Ring trial of 2nd generation RT‐QuIC diagnostic tests for sporadic CJD
Annals of Clinical and Translational Neurology, Volume 7, Issue 11, Page 2262-2271, November 2020., 2020 Abstract Objective Real‐time quaking‐induced conversion (RT‐QuIC) assays detect prion‐seeding activity in a variety of human biospecimens, including cerebrospinal fluid and olfactory mucosa swabs. The assay has shown high diagnostic accuracy in patients with prion disorders.
Christina D. Orrú +21 more
wiley +1 more source
A case report of genetic prion disease with two different PRNP variants
Molecular Genetics &Genomic Medicine, Volume 8, Issue 3, March 2020., 2020 Genetic prion disease is typically inherited in an autosomal dominant manner and the low incidence of disease makes it highly unlikely that a patient would inherit two different pathogenic mutations, however, we recently identified a case in which the patient did indeed inherit two pathogenic PRNP variants and presented with an atypical phenotype.
Megan Piazza +3 more
wiley +1 more source
Varón de 61 años con deterioro cognitivo subagudo y ataxia de la marcha
Galicia Clínica, 2019 RESUMEN La enfermedad de Creutzfeldt-Jakob (ECJ) forma parte de las enfermedades priónicas. La presentación típica consiste en la presencia de demencia y mioclonías, en pacientes jóvenes; con una evolución rápidamente progresiva y con una elevada ...
Amara González Noya +3 more
doaj +1 more source
Clinical and neuroimaging characteristics of 14 patients with prionopathy: a descriptive study
Neurología (English Edition), 2015 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 ...
S. Ortega-Cubero +11 more
doaj +1 more source
Descripción de una serie de pacientes con diagnóstico de enfermedad priónica
Neurología, 2015 Resumen: Introducción: Las prionopatías representan hasta el 62% de los casos de demencia rápidamente progresiva (DRP) en los que se alcanza un diagnóstico definitivo.
S. Ortega-Cubero +11 more
doaj +1 more source
ENFERMEDAD DE JAKOB-CREUTZFELDT. A PROPÓSITO DE UN CASO
Revistas Argentina de Medicina, 2017 La enfermedad de Jakob-Creutzfeuldt esporádica es la más común de las patologías priónicas humanas. Se presenta el caso de una paciente de 59 años de edad internada por trastornos conductuales cognitivos, acompañados de mioclonías y mutismo acinético.
Lucía González +7 more
doaj +2 more sources
Usefulness of high b-value diffusion-weighted MRI in the diagnosis of Creutzfeldt-Jakob disease
Neurología (English Edition), 2011 Background: Current diagnostic criteria of probable Creutzfeldt-Jakob disease (CJD) include a combination of clinical, EEG and analytic data. Recent data indicate that brain MRI including fluid-attenuated inversion recovery (FLAIR) and diffusion-weighted
E. Riva-Amarante +7 more
doaj +1 more source