Department of Neurology, University Hospital of Larissa, School of Medicine, University of Thessaly, 41100 Larissa, Greece.
School of Medicine, University of Patras, 26504 Rio Patras, Greece.
Int J Mol Sci. 2024 Nov 4;25(21):11838. doi: 10.3390/ijms252111838.
This narrative review explores the current landscape of blood biomarkers in Frontotemporal dementia (FTD). Neurofilament light chain (NfL) may be useful in the differentiation of behavioral variant FTD from primary psychiatric disorders (PPDs) or dementia with Lewy bodies (DLB). In prodromal FTD and presymptomatic mutation carriers (, , ), elevated NfL may herald pheno-conversion to full-blown dementia. Baseline NfL correlates with steeper neuroanatomical changes and cognitive, behavioral and functional decline, making NfL promising in monitoring disease progression. Phosphorylated neurofilament heavy chain (pNfH) levels have a potential limited role in the demarcation of the conversion stage to full-blown FTD. Combined NfL and pNfH measurements may allow a wider stage stratification. Total tau levels lack applicability in the framework of FTD. p-tau, on the other hand, is of potential value in the discrimination of FTD from Alzheimer's dementia. Progranulin concentrations could serve the identification of mutation carriers. Glial fibrillary acidic protein (GFAP) may assist in the differentiation of PPDs from behavioral variant FTD and the detection of mutation carriers (additional research is warranted). Finally, TAR DNA-binding protein-43 (TDP-43) appears to be a promising diagnostic biomarker for FTD. Its potential in distinguishing TDP-43 pathology from other FTD-related pathologies requires further research.
这篇叙述性评论探讨了目前在额颞叶痴呆（FTD）中血液生物标志物的现状。神经丝轻链（NfL）可能有助于将行为变异型 FTD 与原发性精神障碍（PPD）或路易体痴呆（DLB）区分开来。在 FTD 的前驱期和无症状突变携带者中，升高的 NfL 可能预示着向完全痴呆的表型转换。基线 NfL 与更陡峭的神经解剖变化以及认知、行为和功能下降相关，这使得 NfL 在监测疾病进展方面很有前景。磷酸化神经丝重链（pNfH）水平在划定向完全 FTD 转换阶段方面的作用有限。NfL 和 pNfH 的联合测量可能允许更广泛的阶段分层。总tau 水平在 FTD 的框架内缺乏适用性。另一方面，p-tau 在 FTD 与阿尔茨海默病痴呆的鉴别中具有潜在价值。颗粒蛋白聚糖浓度可用于识别 突变携带者。胶质纤维酸性蛋白（GFAP）可协助区分 PPD 与行为变异型 FTD 以及检测 突变携带者（需要进一步研究）。最后，TAR DNA 结合蛋白-43（TDP-43）似乎是 FTD 的一种很有前途的诊断生物标志物。它在区分 TDP-43 病理学与其他与 FTD 相关的病理学方面的潜力需要进一步研究。
