Blood Biomarkers for Alzheimer's Disease in Down Syndrome

被引：23
作者：
Montoliu-Gaya, Laia [1 ]
Strydom, Andre [2 ,3 ,4 ]
Blennow, Kaj [1 ,5 ]
Zetterberg, Henrik [1 ,5 ,6 ,7 ,8 ]
Ashton, Nicholas James [1 ,9 ,10 ,11 ]
机构：
[1] Univ Gothenburg, Inst Neurosci & Physiol, Dept Psychiat & Neurochem, Sahlgrenska Acad, S-43141 Molndal, Sweden
[2] Kings Coll London, Inst Psychiat, Dept Forens & Neurodev Sci, London WC2R 2LS, England
[3] South London & Maudsley NHS Fdn Trust, London SE5 8AZ, England
[4] London Syndrome Consortium LonDowns, London, England
[5] Sahlgrens Univ Hosp, Clin Neurochem Lab, S-41345 Molndal, Sweden
[6] UCL, Dept Neurodegenerat Dis, Queen Sq Inst Neurol, London WC1N 3BG, England
[7] UCL, UK Dementia Res Inst, London WC1E 6BT, England
[8] Hong Kong Ctr Neurodegenerat Dis, Hong Kong, Peoples R China
[9] Univ Gothenburg, Wallenberg Ctr Mol & Translat Med, Gothenburg, Sweden
[10] Kings Coll London, Maurice Wohl Clin Neurosci Inst, Dept Old Age Psychiat, London SE5 9RT, England
[11] Maudsley NHS Fdn, NIHR Biomed Res Ctr Mental Hlth, Biomed Res Unit Dementia South London, London SE5 8AF, England
来源：
JOURNAL OF CLINICAL MEDICINE | 2021年 / 10卷 / 16期
基金：
瑞典研究理事会; 英国医学研究理事会; 欧洲研究理事会; 美国国家卫生研究院;
关键词：
biomarkers; Down syndrome; Alzheimer's disease; blood; cerebrospinal fluid; positron emission tomography; PLASMA AMYLOID-BETA; NEUROFILAMENT LIGHT; CEREBROSPINAL-FLUID; INFLAMMATORY CYTOKINES; SYNDROME INDIVIDUALS; PROTEIN-1-42; LEVELS; OXIDATIVE STRESS; NUCLEUS BASALIS; AGE-DEPENDENCE; DEMENTIA;
D O I：
10.3390/jcm10163639
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
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-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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页数：21
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