Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies

被引：50

作者：

Ladogana, Anna ^{[3
]}

Sanchez-Juan, Pascual ^{[4
,5
]}

Mitrova, Eva ^{[6
]}

Green, Alison ^{[7
]}

Cuadrado-Corrales, Natividad ^{[8
]}

Sanchez-Valle, Raquel ^{[9
]}

Koscova, Silvia ^{[6
]}

Aguzzi, Adriano ^{[10
]}

Sklaviadis, Theodoros ^{[11
]}

Kulczycki, Jerzy ^{[12
]}

Gawinecka, Joanna ^{[1
]}

Saiz, Albert ^{[9
]}

Calero, Miguel ^{[8
]}

van Duijn, Cornelia M. ^{[2
]}

Pocchiari, Maurizio ^{[3
]}

Knight, Richard ^{[7
]}

Zerr, Inga ^{[1
]}

机构：

[1] Univ Gottingen, Natl Reference Ctr Transmissible Spongiform Encep, Dept Neurol, D-37075 Gottingen, Germany

[2] Erasmus Univ, Dept Epidemiol & Biostat, Med Ctr Rotterdam, NL-3000 DR Rotterdam, Netherlands

[3] Inst Super Sanita, Dept Cellular Biol & Neurosci, I-00161 Rome, Italy

[4] CIBERNED, Santander, Spain

[5] Fdn Marques de Valdecilla, Inst Format & Res, Santander, Spain

[6] Res Base Slovak Med Univ, Natl Reference Ctr Prion Dis, Bratislava 83303, Slovakia

[7] Univ Edinburgh, Natl CJD Surveillance Unit, Edinburgh EH4 2XU, Midlothian, Scotland

[8] Inst Salud Carlos III, Ctr Nacl Microbiol, Madrid 28220, Spain

[9] Hosp Clin Prov Barcelona, Dept Neurol, Barcelona 08036, Spain

[10] Natl Reference Ctr Human Prion Dis NRPE, Inst Neuropathol, CH-8091 Zurich, Switzerland

[11] Aristotle Univ Thessaloniki, Pharmacol Lab, Dept Pharmaceut Sci, Sch Hlth Sci, Thessaloniki 54124, Greece

[12] Inst Psychiat & Neurol, Neurol Dept 1, PL-02957 Warsaw, Poland

来源：

JOURNAL OF NEUROLOGY | 2009年 / 256卷 / 10期

关键词：

Creutzfeldt-Jakob disease; CSF proteins; 14-3-3; protein; Tau; CREUTZFELDT-JAKOB-DISEASE; PRION PROTEIN GENE; DIFFERENTIAL-DIAGNOSIS; PHENOTYPIC VARIABILITY; R208H MUTATION; PRNP GENE; CSF TESTS; CJD; INSERTION; PATIENT;

D O I：

10.1007/s00415-009-5163-x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The 14-3-3 protein test has been shown to support the clinical diagnosis of sporadic Creutzfeldt-Jakob disease (CJD) when associated with an adequate clinical context, and a high differential potential for the diagnosis of sporadic CJD has been attributed to other cerebrospinal fluid (CSF) proteins such as tau protein, S100b and neuron specific enolase (NSE). So far there has been only limited information available about biochemical markers in genetic transmissible spongiform encephalopathies (gTSE), although they represent 10-15% of human TSEs. In this study, we analyzed CSF of 174 patients with gTSEs for 14-3-3 (n = 166), tau protein (n = 78), S100b (n = 46) and NSE (n = 50). Levels of brain-derived proteins in CSF varied in different forms of gTSE. Biomarkers were found positive in the majority of gCJD (81%) and insert gTSE (69%), while they were negative in most cases of fatal familial insomnia (13%) and Gerstmann-Straussler-Scheinker syndrome (10%). Disease duration and codon 129 genotype influence the findings in a different way than in sporadic CJD.

引用

页码：1620 / 1628

页数：9

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