Clinical and research application of fluid biomarkers in autosomal dominant Alzheimer's disease and Down syndrome
María Carmona-Iragui,
Antoinette O'Connor,
Jorge Llibre-Guerra,
Patrick Lao,
Nicholas J. Ashton,
Juan Fortea,
Raquel Sánchez-Valle
Affiliations
María Carmona-Iragui
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; Corresponding author. Memory Unit & Alzheimer Down Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, C/Sant Antoni M Claret 167, 08025, Barcelona, Spain.
Antoinette O'Connor
Department of Neurology, Tallaght University Hospital, Tallaght, Dublin 24, Ireland; Institute of Memory and Cognition, Tallaght University Hospital, Tallaght, Dublin 24, Ireland
Jorge Llibre-Guerra
Dominantly Inherited Alzheimer's Network Trials Unit, Department of Neurology, Washington University School of Medicine in St.Louis, USA
Patrick Lao
G.H. Sergievsky Center and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10019, USA
Nicholas J. Ashton
Department of Psychiatry and Neurochemistry, Institute of Neuroscience & Physiology, The Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden; King's College London, Institute of Psychiatry, Psychology and Neuroscience, Maurice Wohl Institute Clinical Neuroscience Institute, London, UK; NIHR Biomedical Research Centre for Mental Health and Biomedical Research Unit for Dementia at South London and Maudsley NHS Foundation, London, UK; Centre for Age-Related Medicine, Stavanger University Hospital, Stavanger, Norway
Juan Fortea
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
Raquel Sánchez-Valle
Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic de Barcelona, Fundació de Recerca Clínic Barcelona-IDIBAPS, University of Barcelona, Barcelona, Spain
Summary: 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.
