Blood‐based biomarkers for Down syndrome and Alzheimer's disease: A systematic review
- 1 July 2019
- journal article
- review article
- Published by Wiley in Developmental Neurobiology
- Vol. 79 (7), 699-710
- https://doi.org/10.1002/dneu.22714
Abstract
Down syndrome (DS) occurs due to triplication of chromosome 21. Individuals with DS face an elevated risk for development of Alzheimer's disease (AD) due to increased amyloid beta (A beta) resulting from the over-expression of the amyloid precursor protein found on chromosome 21. Diagnosis of AD among individuals with DS poses particular challenges resulting in an increased focus on alternative diagnostic methods such as blood-based biomarkers. The aim of this review was to evaluate the current state of the literature of blood-based biomarkers found in individuals with DS and particularly among those also diagnosed with AD or in prodromal stages (mild cognitive impairment [MCI]). A systematic review was conducted utilizing a comprehensive search strategy. Twenty-four references were identified, of those, 22 fulfilled inclusion criteria were selected for further analysis with restriction to only plasma-based biomarkers. Studies found A beta to be consistently higher among individuals with DS; however, the link between A beta peptides (A beta 1-42 and A beta 1-40) and AD among DS was inconsistent. Inflammatory-based proteins were more reliably found to be elevated leading to preliminary work focused on an algorithmic approach with predominantly inflammatory-based proteins to detect AD and MCI as well as predict risk of incidence among DS. Separate work has also shown remarkable diagnostic accuracy with the use of a single protein (NfL) as compared to combined proteomic profiles. This review serves to outline the current state of the literature and highlights the potential plasma-based biomarkers for use in detecting AD and MCI among this at-risk population.Keywords
Funding Information
- Alzheimer's Association (IIRG‐08‐90655)
- National Institute on Aging (R01AG051848, R01AG058252, R01AG058537, U01AG051214, U01AG051406)
- National Institutes of Health
This publication has 53 references indexed in Scilit:
- Markers of neural degeneration and regeneration in Down syndrome patientsEgyptian Journal of Medical Human Genetics, 2013
- Change in plasma Aβ peptides and onset of dementia in adults with Down syndromeNeurology, 2010
- Increased Soluble APPα, Abeta 1-42, and Anti-Abeta 1-42 Antibodies in Plasma From Down Syndrome PatientsAlzheimer Disease & Associated Disorders, 2010
- The Relationship of Plasma Aβ Levels to Dementia in Aging Individuals With Down SyndromeAlzheimer Disease & Associated Disorders, 2009
- Plasma β‐amyloid and duration of Alzheimer's disease in adults with Down syndromeInternational Journal of Geriatric Psychiatry, 2009
- Executive dysfunction and its association with personality and behaviour changes in the development of Alzheimer's disease in adults with Down syndrome and mild to moderate learning disabilitiesBritish Journal of Clinical Psychology, 2008
- Elevated Plasma β-Amyloid Peptide Aβ42 Levels, Incident Dementia, and Mortality in Down SyndromeArchives of Neurology, 2007
- Plasma amyloid β protein 1–42 levels are increased in old Down Syndrome but not in young Down SyndromeNeuroscience Letters, 2003
- Molecular mapping of alzheimer‐type dementia in Down's syndromeAnnals of Neurology, 1998
- Neuropsychological evaluation of adults with Down's syndrome: patterns of selective impairment in non‐demented old adultsJournal of Intellectual Disability Research, 1989