期刊
JOURNAL OF CLINICAL MEDICINE
卷 10, 期 16, 页码 -出版社
MDPI
DOI: 10.3390/jcm10163639
关键词
biomarkers; Down syndrome; Alzheimer's disease; blood; cerebrospinal fluid; positron emission tomography
资金
- Swedish Research Council [2018-02532]
- European Research Council [681712]
- Swedish State Support for Clinical Research [ALFGBG-720931]
- Alzheimer Drug Discovery Foundation (ADDF), USA [201809-2016862]
- AD Strategic Fund
- Alzheimer's Association [ADSF-21-831376-C, ADSF-21-831381-C, ADSF-21-831377-C]
- Olav Thon Foundation
- Hjarnfonden, Sweden [FO2019-0228]
- European Union [860197]
- UK Dementia Research Institute at UCL
- Torsten Soderberg Foundation, Stockholm, Sweden
- Medical Research Council [MR/S011277/1, MR/S005145/1, MR/R024901/1]
- Lumind IDSC
- The LeJeune Foundation
- European Commission [GO-DS21-848077]
- Alzheimer's Society
- NHS England
- National Institutes of Health [NIA 1R61AG066543-01]
- Erling-Persson Family Foundation
- Stiftelsen for Gamla Tjanarinnor
Epidemiological evidence suggests that individuals with Down syndrome may develop Alzheimer's disease neuropathology by the age of 40. Diagnosis of dementia in these patients is challenging due to pre-existing intellectual disabilities. Blood biomarkers are seen as a promising tool for AD diagnosis in this vulnerable population.
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-beta, 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.
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