title: Cerebrospinal fluid biomarkers in human genetic transmissible spongiform encephalopathies.
abstract: 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.
authors.affiliation: Department of Cellular Biology and Neurosciences, Instituto Superiore di Sanita, Viale Regina Elena 299, 00161 Rome, Italy. Ladogana@iss.it
authors.forename: Anna
authors.initials: A
authors.lastname: Ladogana
authors.forename: Pascual
authors.initials: P
authors.lastname: Sanchez-Juan
authors.forename: Eva
authors.initials: E
authors.lastname: Mitrová
authors.forename: Alison
authors.initials: A
authors.lastname: Green
authors.forename: Natividad
authors.initials: N
authors.lastname: Cuadrado-Corrales
authors.forename: Raquel
authors.initials: R
authors.lastname: Sánchez-Valle
authors.forename: Silvia
authors.initials: S
authors.lastname: Koscova
authors.forename: Adriano
authors.initials: A
authors.lastname: Aguzzi
authors.forename: Theodoros
authors.initials: T
authors.lastname: Sklaviadis
authors.forename: Jerzy
authors.initials: J
authors.lastname: Kulczycki
authors.forename: Joanna
authors.initials: J
authors.lastname: Gawinecka
authors.forename: Albert
authors.initials: A
authors.lastname: Saiz
authors.forename: Miguel
authors.initials: M
authors.lastname: Calero
authors.forename: Cornelia M
authors.initials: CM
authors.lastname: van Duijn
authors.forename: Maurizio
authors.initials: M
authors.lastname: Pocchiari
authors.forename: Richard
authors.initials: R
authors.lastname: Knight
authors.forename: Inga
authors.initials: I
authors.lastname: Zerr
mesh_terms: 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*
chemical_list: 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