Blood biomarkers in Down syndrome: Facilitating Alzheimer's disease detection and monitoring.

Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association

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Affiliated Institutions:  Department of Family Medicine, University of North Texas Health Science Center, Fort Worth, Texas, USA. Department of Pathology and Laboratory Medicine, University of California, Irvine, California, USA. Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at the University of Gothenburg, Goteborg, Sweden. Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology & Neuroscience, King's College, London, UK. Sant Pau Memory Unit, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Barcelona, Spain. Department of Epidemiology and Prevention, Public Health Sciences, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA. Department of Psychiatry and O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas, Texas, USA. Department of Pharmacology and Nutritional Sciences, University of Kentucky, Lexington, Kentucky, USA. Department of Neurology, University of California, Irvine, California, USA.

Abstract summary 

Blood-based biomarkers continue to be explored for disease detection, monitoring of progression, and therapeutic outcomes as the diagnostic determination of Alzheimer's Disease in Down Syndrome (DS-AD) remains challenging in clinical settings. This perspective highlights the current status of this effort. Overall, amyloid (A), tau (T), and neurodegeneration (AT[N]) blood-based biomarkers have been shown to increase with disease pathology for individuals with DS. Phosphorylated tau biomarkers (p-tau217, p-tau181) have been consistently shown to track disease progression for DS-AD and are likely good candidates for use in clinical settings. Biomarkers of inflammation (glial fibrillary acidic protein) also show promise; however, additional work is needed. Findings from stability work of blood-based biomarkers conducted among non-DS also support the potential longitudinal utility of biomarkers such as neurofilament light chain and p-tau181 in DS. Gaps in our knowledge are highlighted, and a potential role for sex differences in biomarker outcomes is noted, along with recommendations for determining the appropriate context of use when translating biomarkers into clinical applications. HIGHLIGHTS: An overview of blood-based biomarkers for Alzheimer's disease (AD) was provided for consideration of their utility among individuals with Down syndrome when looking toward potential clinical applications. Longitudinal stability of many blood biomarkers and improvement in detection sensitivity make blood such as plasma a viable source for exploring AD pathology. Variability in reviewed findings regarding the application of blood biomarkers highlights the importance of understanding and defining the appropriate context of use, particularly when translating them into clinical practice.

Authors & Co-authors:  Petersen Melissa E ME Flores-Aguilar Lisi L Head Elizabeth E Montoliu-Gaya Laia L Strydom Andre A Pape Sarah E SE Fortea Juan J Ashton Nicholas J NJ Udeh-Momoh Chinedu C O'Bryant Sid E SE German Dwight D Despa Florin F Mapstone Mark M Zetterberg Henrik H

Study Outcome 

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Statistics
Citations :  de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genet Med. 2017;19:439‐447. doi:10.1038/GIM.2016.127
Authors :  14
Identifiers
Doi : 10.1002/alz.14364
SSN : 1552-5279
Study Population
Male,Female
Mesh Terms
Other Terms
Alzheimer's disease;Down syndrome;amyloid;biomarkers;blood;neurodegeneration;tau
Study Design
Longitudinal Study
Study Approach
Country of Study
Publication Country
United States