Agnello Luisa, Gambino Caterina Maria, Ciaccio Anna Maria, Masucci Anna, Vassallo Roberta, Tamburello Martina, Scazzone Concetta, Lo Sasso Bruna, Ciaccio Marcello
Institute of Clinical Biochemistry, Clinical Molecular Medicine, and Clinical Laboratory Medicine, Department of Biomedicine, Neurosciences and Advanced Diagnostics, University of Palermo, 90127 Palermo, Italy.
Department of Laboratory Medicine, University Hospital "P. Giaccone", 90127 Palermo, Italy.
Int J Mol Sci. 2024 Apr 13;25(8):4323. doi: 10.3390/ijms25084323.
Neurodegenerative disorders (NDs) represent a group of different diseases characterized by the progressive degeneration and death of the nervous system's cells. The diagnosis is challenging, especially in the early stages, due to no specific clinical signs and symptoms. In this context, laboratory medicine could support clinicians in detecting and differentiating NDs. Indeed, biomarkers could indicate the pathological mechanisms underpinning NDs. The ideal biofluid for detecting the biomarkers of NDs is cerebrospinal fluid (CSF), which has limitations, hampering its widespread use in clinical practice. However, intensive efforts are underway to introduce high-sensitivity analytical methods to detect ND biomarkers in alternative nonivasive biofluid, such as blood or saliva. This study presents an overview of the ND molecular biomarkers currently used in clinical practice. For some diseases, such as Alzheimer's disease or multiple sclerosis, biomarkers are well established and recommended by guidelines. However, for most NDs, intensive research is ongoing to identify reliable and specific biomarkers, and no consensus has yet been achieved.
神经退行性疾病（NDs）是一组不同的疾病，其特征是神经系统细胞进行性退化和死亡。由于没有特定的临床体征和症状，诊断具有挑战性，尤其是在疾病早期。在这种情况下，检验医学可以辅助临床医生检测和鉴别神经退行性疾病。事实上，生物标志物可以指示神经退行性疾病的病理机制。检测神经退行性疾病生物标志物的理想生物流体是脑脊液（CSF），但它存在局限性，阻碍了其在临床实践中的广泛应用。然而，目前正在大力研发高灵敏度分析方法，以在血液或唾液等替代性非侵入性生物流体中检测神经退行性疾病生物标志物。本研究概述了目前临床实践中使用的神经退行性疾病分子生物标志物。对于某些疾病，如阿尔茨海默病或多发性硬化症，生物标志物已得到充分确立并被指南推荐。然而，对于大多数神经退行性疾病，目前正在进行深入研究以确定可靠且特异的生物标志物，尚未达成共识。
