Wolff Andreas, Demleitner Antonia Franziska, Feneberg Emily, Lingor Paul
Klinik und Poliklinik für Neurologie, School of Medicine, Klinikum rechts der Isar, Technische Universität München, Ismaninger Straße 22, 81675, München, Deutschland.
Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), München, Deutschland.
Nervenarzt. 2024 Aug;95(8):689-696. doi: 10.1007/s00115-024-01654-0. Epub 2024 Apr 17.
With the increasing development of disease-modifying causative treatment, the importance of early diagnosis and detection of asymptomatic or oligosymptomatic early stages of neurodegenerative diseases is increasing.
Presentation of early stages of neurodegenerative diseases, diagnostic procedures for the early detection and possible treatment consequences.
Selective literature search, discussion of basic research and expert recommendations.
Many neurodegenerative diseases have a prodromal phase preceding the manifest disease that can be diagnosed with current criteria. In this prodromal phase, those affected are often oligosymptomatic but in some cases can already be identified using biomarkers. These developments are already taken into account in diagnostic criteria for some of these prodromal phases. The prodromal phase, in turn, is preceded by an asymptomatic phase which, however, already shows molecular changes and can be identified by biomarkers in some diseases. The early identification and stratification of patients is particularly important when planning studies for disease-modifying treatment, and biomarkers are already being used in clinical trials for this purpose.
Biomarker-based identification of individuals in the prodromal phase of neurodegenerative diseases is already possible for some entities. People who show the first signs of a neurodegenerative disease can be referred to centers for clinical trials and observational studies.
随着疾病修饰性病因治疗的不断发展,神经退行性疾病无症状或症状轻微的早期阶段的早期诊断和检测的重要性日益增加。
介绍神经退行性疾病的早期阶段、早期检测的诊断程序以及可能的治疗结果。
选择性文献检索、基础研究讨论及专家建议。
许多神经退行性疾病在明显发病之前有一个前驱期,目前的标准可以对其进行诊断。在这个前驱期,患者通常症状轻微,但在某些情况下已经可以使用生物标志物进行识别。这些进展已经在其中一些前驱期的诊断标准中得到考虑。反过来,前驱期之前是无症状期,然而,无症状期已经显示出分子变化,并且在某些疾病中可以通过生物标志物进行识别。在规划疾病修饰性治疗的研究时,患者的早期识别和分层尤为重要,生物标志物已经为此目的用于临床试验。
对于某些实体,已经可以基于生物标志物识别神经退行性疾病前驱期的个体。出现神经退行性疾病最初迹象的人可以被转介到进行临床试验和观察性研究的中心。