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OBJECTIVES: To analyze the diagnostic sensitivity and specificity of various brain-derived proteins (14-3-3, Tau, neuron specific enolase [NSE], and S100b) in the CSF of patients with Creutzfeldt-Jakob disease (CJD) and to analyze biologic factors that modify these parameters. METHODS: CSF was tested for 14-3-3, Tau, NSE, and S100b in 1,859 patients with sporadic, genetic, iatrogenic, and variant CJD, and in 1,117 controls. RESULTS: The highest sensitivity was achieved for 14-3-3 and Tau in sporadic CJD (85% and 86%), and a combined determination of 14-3-3 and Tau, S100b, or NSE increased the sensitivity to over 93%. A multivariate analysis showed that the sensitivity of all tests was highest in patients with the shortest disease duration, age at onset >40 years, and homozygosity at codon 129 of the prion protein gene. In a group of patients with repeated lumbar punctures, a second test also increased the diagnostic sensitivity. CONCLUSIONS: The detection of elevated levels of brain-derived proteins in the CSF in patients with suspected Creutzfeldt-Jakob disease is a valuable diagnostic test. A second lumbar puncture may be of value in patients with atypical clinical course in whom the first test was negative.

Original publication

DOI

10.1212/01.wnl.0000230159.67128.00

Type

Journal article

Journal

Neurology

Publication Date

22/08/2006

Volume

67

Pages

637 - 643

Keywords

14-3-3 Proteins, Adolescent, Adult, Aged, Aged, 80 and over, Biomarkers, Child, Child, Preschool, Creutzfeldt-Jakob Syndrome, Diagnosis, Differential, Europe, Humans, Middle Aged, Nerve Tissue Proteins, Reproducibility of Results, Sensitivity and Specificity