Blood Biomarkers for Alzheimer’s Disease in Down Syndrome

Journal of Clinical Medicine

卷:10

Andre Strydom¹  Henrik Zetterberg²  Nicholas James Ashton²  Laia Montoliu-Gaya²  Kaj Blennow² 

[1]Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology and Neuroscience, King’s College London, London WC2R 2LS, UK

[2]|Department of Psychiatry and Neurochemistry, Institute of Neuroscience & Physiology, The Sahlgrenska Academy at the University of Gothenburg, 431 41 Mölndal, Sweden

关键词: biomarkers;    Down syndrome;    Alzheimer’s disease;    blood;    cerebrospinal fluid;    positron emission tomography;   

DOI  :  10.3390/jcm10163639

来源: DOAJ

【 摘 要 】

Epidemiological evidence suggests that by the age of 40 years, all individuals with Down syndrome (DS) have Alzheimer’s disease (AD) neuropathology. Clinical diagnosis of dementia by cognitive assessment is complex in these patients due to the pre-existing and varying intellectual disability, which may mask subtle declines in cognitive functioning. Cerebrospinal fluid (CSF) and positron emission tomography (PET) biomarkers, although accurate, are expensive, invasive, and particularly challenging in such a vulnerable population. The advances in ultra-sensitive detection methods have highlighted blood biomarkers as a valuable and realistic tool for AD diagnosis. Studies with DS patients have proven the potential blood-based biomarkers for sporadic AD (amyloid-β, tau, phosphorylated tau, and neurofilament light chain) to be useful in this population. In addition, biomarkers related to other pathologies that could aggravate dementia progression—such as inflammatory dysregulation, energetic imbalance, or oxidative stress—have been explored. This review serves to provide a brief overview of the main findings from the limited neuroimaging and CSF studies, outline the current state of blood biomarkers to diagnose AD in patients with DS, discuss possible past limitations of the research, and suggest considerations for developing and validating blood-based biomarkers in the future.

【 授权许可】

Unknown