Majumder Vivek, Gregory Jenna M, Barria Marcelo A, Green Alison, Pal Suvankar
Centre for Clinical Brain Sciences, University of Edinburgh, Chancellor's Building, Edinburgh, EH16 4SB, UK.
Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh, UK.
BMC Neurol. 2018 Jun 28;18(1):90. doi: 10.1186/s12883-018-1091-7.
Frontotemporal dementia (FTD) and Amyotrophic Lateral Sclerosis (ALS) are incurable, progressive and fatal neurodegenerative diseases with patients variably affected clinically by motor, behavior, and cognitive deficits. The accumulation of an RNA-binding protein, TDP-43, is the most significant pathological finding in approximately 95% of ALS cases and 50% of FTD cases, and discovery of this common pathological signature, together with an increasing understanding of the shared genetic basis of these disorders, has led to FTD and ALS being considered as part of a single disease continuum. Given the widespread aggregation and accumulation of TDP-43 in FTD-ALS spectrum disorder, TDP-43 may have potential as a biomarker in these diseases.
We therefore conducted a systematic review and meta-analysis to evaluate the diagnostic utility of TDP-43 detected in the cerebrospinal fluid (CSF) of patients with FTD-ALS spectrum disorder.
From seven studies, our results demonstrate that patients with ALS have a statistically significantly higher level of TDP-43 in CSF (effect size 0.64, 95% CI: 0.1-1.19, p = 0.02).
These data suggest promise for the use of CSF TDP-43 as a biomarker for ALS.
额颞叶痴呆（FTD）和肌萎缩侧索硬化症（ALS）是无法治愈、进行性发展且致命的神经退行性疾病，患者在临床上会受到运动、行为和认知缺陷的不同程度影响。一种RNA结合蛋白TDP-43的积累是约95%的ALS病例和50%的FTD病例中最显著的病理发现，这一共同病理特征的发现，以及对这些疾病共同遗传基础的日益了解，使得FTD和ALS被视为单一疾病连续体的一部分。鉴于TDP-43在FTD-ALS谱系障碍中广泛聚集和积累，TDP-43可能具有作为这些疾病生物标志物的潜力。
因此，我们进行了一项系统评价和荟萃分析，以评估在FTD-ALS谱系障碍患者脑脊液（CSF）中检测到的TDP-43的诊断效用。
从七项研究中，我们的结果表明，ALS患者脑脊液中TDP-43水平在统计学上显著更高（效应大小0.64，95%置信区间：0.1-1.19，p = 0.02）。
这些数据表明脑脊液TDP-43有望作为ALS的生物标志物。
