Kapaki Elisabeth, Boufidou Foteini, Bourbouli Mara, Pyrgelis Efstratios-Stylianos, Constantinides Vasilios C, Anastassopoulou Cleo, Paraskevas George P
1st Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, 74, Vass. Sophias Ave., 11528 Athens, Greece.
Neurochemistry and Biological Marker Unit, 1st Department of Neurology, School of Medicine, National and Kapodistrian University of Athens, Eginition Hospital, 74, Vass. Sophias Ave., 11528 Athens, Greece.
J Pers Med. 2022 Oct 21;12(10):1747. doi: 10.3390/jpm12101747.
Cerebrospinal fluid (CSF) biomarkers, namely total tau, phospho-tau and amyloid beta peptides, have received much attention specifically regarding Alzheimer's disease (AD), since they can detect the biochemical fingerprint of AD and serve as a diagnostic tool for accurate and early diagnosis during life. In the same way, biomarkers for other neurodegenerative disease pathologies are also needed. We present a case series of six patients with genetic frontotemporal dementia (FTD), with TDP-43 underlying proteinopathy, in an attempt to assess TDP-43 as a novel biomarker alone and in combination with established AD biomarkers for this specific patient group, based on the principles of personalized and precision medicine. Our results indicate that genetic TDP-43-FTD is characterized by increased CSF TPD-43 and increased TDP-43 × τ/τ combination. Hence, TDP-43 combined with tau proteins could be a useful tool for the diagnosis of genetic FTD with TDP-43 underling histopathology, supplementing clinical, neuropsychological and imaging data.
脑脊液（CSF）生物标志物，即总tau蛋白、磷酸化tau蛋白和淀粉样β肽，在阿尔茨海默病（AD）方面受到了广泛关注，因为它们能够检测出AD的生化特征，并作为一种诊断工具在生前进行准确的早期诊断。同样，其他神经退行性疾病病理的生物标志物也很有必要。我们展示了一个包含6例遗传性额颞叶痴呆（FTD）患者的病例系列，这些患者存在TDP - 43相关的潜在蛋白病，旨在基于个性化和精准医学原则，评估TDP - 43作为一种新型生物标志物单独使用以及与已有的AD生物标志物联合用于这一特定患者群体的情况。我们的结果表明，遗传性TDP - 43 - FTD的特征是脑脊液中TDP - 43升高以及TDP - 43×τ/τ组合升高。因此，TDP - 43与tau蛋白联合可能是诊断具有TDP - 43相关组织病理学特征的遗传性FTD的有用工具，可补充临床、神经心理学和影像学数据。
