Sant Pau Memory Unit, Neurology Department. Hospital de la Santa Creu i Sant Pau- Biomedical Research Institute Sant Pau- Universitat Autònoma de Barcelona, Spain; Barcelona Down Medical Center, Fundació Catalana Síndrome de Down, Spain; Center of Biomedical Investigation Network for Neurodegenerative Diseases, CIBERNED, Spain.
Department of Neurology, Tallaght University Hospital, Tallaght, Dublin 24, Ireland; Institute of Memory and Cognition, Tallaght University Hospital, Tallaght, Dublin 24, Ireland. Electronic address: antoinette.o'
EBioMedicine. 2024 Oct;108:105327. doi: 10.1016/j.ebiom.2024.105327. Epub 2024 Oct 3.
Autosomal dominant Alzheimer's disease (ADAD) and Down syndrome (DS) constitute genetic forms of Alzheimer's disease (AD). The study of these forms has been crucial in understanding the biomarker changes and disease progression, notably in advancing our knowledge of the natural history of AD. However, some specific characteristics of biomarkers in genetically determined forms and, most importantly, the near full penetrance and predictability of disease onset lead to a very different context of use for biomarkers in these populations. This article delves into the similarities and differences in biomarker profiles between genetically determined AD and sporadic cases, discussing the implications for research and clinical practice. It also emphasizes the need to account for factors that may affect biomarker reliability differently in genetically determined AD. Enhancing our understanding of the disease will pave the way for more personalized therapeutic approaches for affected individuals.
常染色体显性阿尔茨海默病 (ADAD) 和唐氏综合征 (DS) 构成了阿尔茨海默病 (AD) 的遗传形式。对这些形式的研究对于理解生物标志物变化和疾病进展至关重要，特别是在推进我们对 AD 自然史的认识方面。然而，遗传决定形式中的一些生物标志物的特定特征，以及最重要的是疾病发作的近乎完全外显率和可预测性，导致这些人群中生物标志物的使用情况非常不同。本文深入探讨了遗传决定的 AD 与散发性病例之间生物标志物特征的异同，讨论了这对研究和临床实践的影响。它还强调了需要考虑遗传决定的 AD 中可能会以不同方式影响生物标志物可靠性的因素。增强我们对该疾病的理解将为受影响个体的更个性化治疗方法铺平道路。
