Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies.
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-Sträussler-Scheinker syndrome (10%). Disease duration and codon 129 genotype influence the findings in a different way than in sporadic CJD.
Ladogana
Anna
A
Department of Cellular Biology and Neurosciences, Instituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy. Ladogana@iss.it
Sanchez-Juan
Pascual
P
Mitrová
Eva
E
Green
Alison
A
Cuadrado-Corrales
Natividad
N
Sánchez-Valle
Raquel
R
Koscova
Silvia
S
Aguzzi
Adriano
A
Sklaviadis
Theodoros
T
Kulczycki
Jerzy
J
Gawinecka
Joanna
J
Saiz
Albert
A
Calero
Miguel
M
van Duijn
Cornelia M
CM
Pocchiari
Maurizio
M
Knight
Richard
R
Zerr
Inga
I
D048948:14-3-3 Proteins / Q000134:cerebrospinal fluid*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015415:Biomarkers / Q000134:cerebrospinal fluid; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000235:genetics; D005260:Female; D005838:Genotype; D016098:Gerstmann-Straussler-Scheinker Disease / Q000134:cerebrospinal fluid / Q000235:genetics; D006801:Humans; D034062:Insomnia, Fatal Familial / Q000134:cerebrospinal fluid / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009414:Nerve Growth Factors / Q000134:cerebrospinal fluid*; D010751:Phosphopyruvate Hydratase / Q000134:cerebrospinal fluid*; D017096:Prion Diseases / Q000134:cerebrospinal fluid* / Q000235:genetics; D064568:S100 Calcium Binding Protein beta Subunit; D009418:S100 Proteins / Q000134:cerebrospinal fluid*; D013997:Time Factors; D055815:Young Adult; D016875:tau Proteins / Q000134:cerebrospinal fluid*
D048948:14-3-3 Proteins; D015415:Biomarkers; C054369:MAPT protein, human; D009414:Nerve Growth Factors; D064568:S100 Calcium Binding Protein beta Subunit; D009418:S100 Proteins; C579160:S100B protein, human; D016875:tau Proteins; D010751:Phosphopyruvate Hydratase