Bourbouli Mara, Rentzos Michael, Bougea Anastasia, Zouvelou Vasiliki, Constantinides Vasilios C, Zaganas Ioannis, Evdokimidis Ioannis, Kapaki Elisabeth, Paraskevas George P
First Department of Neurology, Neurochemistry Unit, School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, Athens, Greece.
Dement Geriatr Cogn Disord. 2017;44(3-4):144-152. doi: 10.1159/000478979. Epub 2017 Aug 23.
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are nowadays recognized as spectrum disorders with a molecular link, the TAR DNA-binding protein 43 (TDP-43), rendering it a surrogate biomarker for these disorders.
We measured cerebrospinal fluid (CSF) levels of TDP-43, beta-amyloid peptide with 42 amino acids (Aβ42), total tau protein (τT), and tau protein phosphorylated at threonine 181 (τP-181) in 32 patients with ALS, 51 patients with FTD, and 17 healthy controls. Double-sandwich commercial enzyme-linked immunosorbent assays were used for measurements.
Both ALS and FTD patients presented with higher TDP-43 and τT levels compared to the control group. The combination of biomarkers in the form of the TDP-43 × τT / τP-181 formula achieved the best discrimination between ALS or FTD and controls, with sensitivities and specificities >0.8.
Combined analysis of TDP-43, τT, and τP-181 in CSF may be useful for the antemortem diagnosis of ALS and FTD.
肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）如今被认为是具有分子联系的谱系障碍，即与TAR DNA结合蛋白43（TDP - 43）相关，这使其成为这些疾病的替代生物标志物。
我们检测了32例ALS患者、51例FTD患者和17名健康对照者脑脊液（CSF）中TDP - 43、42个氨基酸的β淀粉样肽（Aβ42）、总tau蛋白（τT）以及苏氨酸181位点磷酸化的tau蛋白（τP - 181）的水平。采用双夹心商业酶联免疫吸附测定法进行检测。
与对照组相比，ALS和FTD患者的TDP - 43和τT水平均较高。以TDP - 43×τT / τP - 181公式形式的生物标志物组合在区分ALS或FTD与对照组方面表现最佳，敏感性和特异性均>0.8。
脑脊液中TDP - 43、τT和τP - 181的联合分析可能有助于ALS和FTD的生前诊断。
