A Test for Creutzfeldt–Jakob Disease Using Nasal Brushings

This preliminary study assessed the accuracy of testing nasal brushings for the prion protein (PrPCJD) found in Creutzfeldt–Jakob disease. In 31 patients with disease and 43 controls, the test had 97% sensitivity and 100% specificity. Prion diseases, or transmissible spongiform encephalopathies, are...

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Bibliographic Details
Published in:The New England journal of medicine Vol. 371; no. 6; pp. 519 - 529
Main Authors: Orrú, Christina D, Bongianni, Matilde, Tonoli, Giovanni, Ferrari, Sergio, Hughson, Andrew G, Groveman, Bradley R, Fiorini, Michele, Pocchiari, Maurizio, Monaco, Salvatore, Caughey, Byron, Zanusso, Gianluigi
Format: Journal Article
Language:English
Published: Waltham, MA Massachusetts Medical Society 07.08.2014
Subjects:
Aged
Allergies
Amyloid
Biological and medical sciences
Biopsy
Brain - pathology
Cerebrospinal fluid
Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Syndrome - diagnosis
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diagnosis
Diagnostic tests
Epithelium - chemistry
Female
Fibrils
Fluorescence
General aspects
Humans
Indicator Dilution Techniques
Infectious diseases
Male
Medical sciences
Middle Aged
Nasal Mucosa - chemistry
Neurology
Olfactory epithelium
Polymerization
Prion protein
Prions
Prions - analysis
Prions - cerebrospinal fluid
Protein seeding
Proteins
Seeds
Sensitivity and Specificity
Italy
Infection
Medicine
Prion disease
Nervous system diseases
Nose
Central nervous system disease
Creutzfeldt-Jakob disease
Brushing
Degenerative disease
Nasopharynx
Prion
Cerebral disorder
ISSN:0028-4793, 1533-4406, 1533-4406
Online Access:Get full text
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Summary:This preliminary study assessed the accuracy of testing nasal brushings for the prion protein (PrPCJD) found in Creutzfeldt–Jakob disease. In 31 patients with disease and 43 controls, the test had 97% sensitivity and 100% specificity. Prion diseases, or transmissible spongiform encephalopathies, are fatal neurodegenerative disorders in humans and animals. 1 , 2 Prion diseases include Creutzfeldt–Jakob disease, the Gerstmann–Sträussler–Scheinker syndrome, and fatal familial insomnia in humans. The most common form of human prion disease is sporadic Creutzfeldt–Jakob disease, with an incidence of approximately 1 case per million persons per year worldwide. 3 Sporadic Creutzfeldt–Jakob disease is clinically heterogeneous and includes forms characterized by psychotic symptoms, depression, and behavioral and personality changes. 4 , 5 Possible or probable sporadic Creutzfeldt–Jakob disease is defined on the basis of clinical features, as well as periodic sharp and slow wave complexes on electroencephalograms, a . . .
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Drs. Orrú and Bongianni contributed equally to this article.
ISSN:0028-4793
1533-4406
1533-4406
DOI:10.1056/NEJMoa1315200