Department of Medicine - DIMED, University of Padova, via Giustiniani, 2, 35128 Padova Italy; Laboratory Medicine, University-Hospital of Padova, via Giustiniani, 2, 35128 Padova, Italy.
Regional Brain Aging Center, University-Hospital of Padova, via Giustiniani, 2, 35128 Padova, Italy.
Clin Chim Acta. 2025 Jan 15;565:120014. doi: 10.1016/j.cca.2024.120014. Epub 2024 Oct 22.
Advances in analytical methods have recently paved the way to Alzheimer's disease (AD) biomarkers testing in blood along with the more established CSF testing. To ensure a forthcoming application of this low-invasive diagnostic that might allow to recognize early onset of dementia, appropriate pathological cut-points need to be defined.
In this cross-sectional study we measured blood and CSF neurofilament light chain (NFL), phosphorylated tau (pTau 181), Amyloid-β1-42 (AB 1-42) and Amyloid-β1-40 (AB 1-40) on a fully automated chemiluminescent platform (Lumipulse, Fujirebio) in 80 cognitively impaired patients and 55 cognitively unimpaired subjects. Clinical cut points were calculated with receiver-operator characteristic (ROC) curve analysis and a head-to-head comparison of blood and CSF testing was performed.
Blood NFL best discriminant thresholds to distinguish neurodegenerative diseases from controls varied age-dependently, being 19 and 33 pg/mL in subjects 50-65 years and > 65 years respectively. AD was best framed by AB 1-42/1-40 ratio < 0.079 and ptau181 > 1 pg/mL. Though a strong correlation for all biomarkers, only blood AB ratio was equal to CSF testing for AD diagnosis.
The specific context of use might be considered to define the cut-offs of blood biomarkers of neurodegenerative diseases. Future efforts towards reference materials for each AD blood biomarker will improve clinical cut-offs.
分析方法的进步最近为在血液中进行阿尔茨海默病(AD)生物标志物测试铺平了道路,同时也为更成熟的脑脊液测试铺平了道路。为了确保即将应用这种低侵入性的诊断方法,从而有可能识别痴呆症的早期发病,需要定义适当的病理临界值。
在这项横断面研究中,我们在一个全自动化学发光平台(Lumipulse,富士瑞比)上测量了 80 名认知障碍患者和 55 名认知正常受试者的血液和脑脊液神经丝轻链(NFL)、磷酸化 tau(pTau 181)、淀粉样蛋白-β1-42(AB 1-42)和淀粉样蛋白-β1-40(AB 1-40)。使用接收者操作特性(ROC)曲线分析计算临床截断值,并对血液和脑脊液检测进行了对比。
血液 NFL 区分神经退行性疾病与对照组的最佳判别阈值随年龄而异,50-65 岁和>65 岁的受试者分别为 19 和 33 pg/mL。AD 最好通过 AB 1-42/1-40 比值<0.079 和 pTau181>1 pg/mL 来界定。尽管所有生物标志物之间相关性很强,但只有血液 AB 比值与 CSF 检测对 AD 诊断具有同等价值。
可以考虑特定的使用环境来定义神经退行性疾病血液生物标志物的临界值。未来针对每个 AD 血液生物标志物的参考材料的研究将改善临床临界值。