High cerebrospinal tau levels are associated with the rs242557 tau gene variant and low cerebrospinal β-amyloid in Parkinson disease.
Cerebrospinal fluid (CSF) tau and phospho-tau levels have been associated with certain tau gene variants and low CSF amyloid-β (Aβ) levels in Alzheimer disease (AD), constituting potential biomarkers of molecular mechanisms underlying neurodegeneration. We aimed to assess whether such CSF-genetic endophenotypes are also present in Parkinson disease (PD). CSF tau, phospho-tau and Aβ levels were obtained from 38 PD patients (19 with dementia) using specific ELISA techniques. All cases were genotyped for a series of tau gene polymorphisms (rs1880753, rs1880756, rs1800547, rs1467967, rs242557, rs2471738 and rs7521). The A-allele rs242557 polymorphism was the only tau gene variant significantly associated with higher CSF tau and phospho-tau levels, under both dominant and dose-response model. This association depended on the presence of dementia, and was only observed in individuals with low (<500pg/mL) CSF Aβ levels. Such genetic-CSF endophenotypes are probably a reflection of the presence of AD-like molecular changes in part of PD patients in the setting of dementia.
Compta
Yaroslau
Y
Neurosciences Institute, IDIBAPS, CIBERNED, Hospital Clínic, Barcelona, Catalonia, Spain.
Ezquerra
Mario
M
Muñoz
Esteban
E
Tolosa
Eduardo
E
Valldeoriola
Francesc
F
Rios
Jose
J
Cámara
Ana
A
Fernández
Manel
M
Buongiorno
Maria Teresa
MT
Marti
Maria Jose
MJ
D000368:Aged; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid*; D015415:Biomarkers / Q000134:cerebrospinal fluid; D005260:Female; D056726:Genetic Association Studies / Q000379:methods; D005819:Genetic Markers / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000134:cerebrospinal fluid* / Q000235:genetics*; D010446:Peptide Fragments / Q000134:cerebrospinal fluid*; D011110:Polymorphism, Genetic / Q000235:genetics; D016875:tau Proteins / Q000134:cerebrospinal fluid* / Q000235:genetics*
D016229:Amyloid beta-Peptides; D015415:Biomarkers; D005819:Genetic Markers; D010446:Peptide Fragments; C075222:amyloid beta-protein (1-42); D016875:tau Proteins