Khabibrakhmanov A N, Mukhamedyarov M A, Bogdanov E I
Kazan State Medical University, Kazan, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2022;122(5):30-35. doi: 10.17116/jnevro202212205130.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that has no effective treatment. To date, ALS is considered as a multifactorial heterogeneous disease, in which the death of motor neurons is a final result of the different pathological pathways. Modern diagnostic criteria and classification of ALS do not take into account all heterogeneity of the disease. Despite the development of molecular neurobiology and neurophysiology, genetics, and technology, significant progress in understanding the pathogenesis of ALS, the disease is diagnosed primarily on the basis of clinical manifestations. In recent years, a number of clinical trials of promising drugs have failed to show positive results. Among the reasons for these failures are variability of ALS forms, patients enrollment already at a late stage of the disease, the lack of use of biomarkers for patients selection and drugs' pharmacodynamics assessment. The study of biomarkers and their implementation in clinical practice can help to solve these problems. Here we will discuss the fluid-based biomarkers for ALS.
肌萎缩侧索硬化症（ALS）是一种致命的神经退行性疾病，目前尚无有效治疗方法。迄今为止，ALS被认为是一种多因素异质性疾病，其中运动神经元的死亡是不同病理途径的最终结果。现代ALS的诊断标准和分类并未考虑到该疾病的所有异质性。尽管分子神经生物学、神经生理学、遗传学和技术有所发展，在理解ALS发病机制方面取得了显著进展，但该疾病主要还是根据临床表现进行诊断。近年来，一些有前景的药物临床试验未能显示出阳性结果。这些失败的原因包括ALS形式的变异性、患者在疾病晚期才入组、缺乏用于患者选择和药物药效学评估的生物标志物。对生物标志物的研究及其在临床实践中的应用有助于解决这些问题。在此，我们将讨论用于ALS的基于体液的生物标志物。
