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作 者:Juan I.López-Carbonero Irene García-Toledo Laura Fernández-Hernández Pablo Bascuñana María J.Gil-Moreno Jordi A.Matías-Guiu Silvia Corrochano
出 处:《Translational Neurodegeneration》2024年第1期697-716,共20页转化神经变性病(英文)
基 金:funded by Consejería de Educación,Juventud y Deporte,Comunidad de Madrid,through the Atracción de Talento program(2022-5A/BMD-24221);Ministerio de Ciencia e Innovación(PDI2020-1153-70RB-100/AEI/10.13039/501100011033)to SC;JAMG is supported by Instituto de Salud CarlosⅢthrough the projects INT20/00079(co-funded by European Regional Development Fund:A way to make Europa)and INT23/00017.
摘 要:TDP-43 proteinopathies are a heterogeneous group of neurodegenerative disorders that share the presence of aberrant,misfolded and mislocalized deposits of the protein TDP-43,as in the case of amyotrophic lateral sclerosis and some,but not all,pathological variants of frontotemporal dementia.In recent years,many other diseases have been reported to have primary or secondary TDP-43 proteinopathy,such as Alzheimer’s disease,Huntington’s disease or the recently described limbic-predominant age-related TDP-43 encephalopathy,highlighting the need for new and accurate methods for the early detection of TDP-43 proteinopathy to help on the stratification of patients with overlapping clinical diagnosis.Currently,TDP-43 proteinopathy remains a post-mortem pathologic diagnosis.Although the main aim is to determine the pathologic TDP-43 proteinopathy in the central nervous system(CNS),the ubiquitous expression of TDP-43 in biofluids and cells outside the CNS facilitates the use of other accessible target tissues that might reflect the potential TDP-43 alterations in the brain.In this review,we describe the main developments in the early detection of TDP-43 proteinopathies,and their potential implications on diagnosis and future treatments.
关 键 词:TDP-43 proteinopathy Biomarkers Early diagnosis ALS FTD LATE
分 类 号:R746.9[医药卫生—神经病学与精神病学]
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