Influence of timing on CSF tests value for Creutzfeldt-Jakob disease diagnosis
Background: The analysis of markers in the cerebrospinal fluid (CSF) is useful in the diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD). However, the time at which the study of these markers is most sensitive remains controversal. Objective: To assess the influence of time of sampling on the value of CSF tests in the diagnosis of sCJD. Method: In the framework of a multinational European study, we studied the results of 14-3-3, S100b, neurone specific enolase (NSE) and tau protein in 833 CSF samples from sCJD patients at different stages of disease and in 66 sequentially repeated lumbar punctures (LP). Results: 14-3-3 and tau protein tended to increase in sensitivity from onset (88%, 81%) to the advanced stage (91%, 90%). This was significant only in the methionine-valine (MV) heterozygous group of patients at codon 129. The absolute levels of S100b (p < 0.05), NSE and tau protein increased in the last stage of disease. High levels of tau protein, NSE and S100b were associated with shorter survival times (p < 0.01). Sixty-six sCJD patients underwent repeated LP. These sCJD patients were younger, had longer disease durations and were more frequently MV at codon 129 (p < 0.001) than the whole group. 14-3-3 sensitivity increased from 64% to 82% in the second LP (p = 0.025) and 88% sCJD patients had at least one positive result. Conclusions: Sensitivity and absolute levels of CJD markers increased with disease progression and were modulated by the codon 129 genotype. Early negative results should be inter-preted with caution, especially in young patients or those who are MV at codon 129.
|Keywords||14-3-3, Biological markers, Creutzfeldt-Jakob disease, NSE, Prion, Prognosis, Repeated lumbar punctures, S100b, Tau|
|Persistent URL||dx.doi.org/10.1007/s00415-006-0472-9, hdl.handle.net/1765/36065|
Sanchez-Juan, P, Sánchez-Valle, R, Green, A, Ladogana, A, Cuadrado-Corrales, N, Mitrová, E, … Zerr, I. (2007). Influence of timing on CSF tests value for Creutzfeldt-Jakob disease diagnosis. Journal of Neurology: official journal of the European Neurological Society, 254(7), 901–906. doi:10.1007/s00415-006-0472-9