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Research papers on Alzheimer’s disease biomarkers

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  1. Strategic roadmap for an early diagnosis of Alzheimer's disease based on biomarkers.

    G. Frisoni, M. Boccardi, F. Barkhof, et al. · 2017 · The Lancet. Neurology · 579 citations

    The diagnosis of Alzheimer's disease can be improved by the use of biological measures. Biomarkers of functional impairment, neuronal loss, and protein deposition that can be assessed by neuroimaging (ie, MRI and PET) or CSF analysis are increasingly being used to diagnose Alzheimer's disease in research studies and specialist clinical settings. However, the validation of the clinical usefulness of these biomarkers is incomplete, and that is hampering reimbursement for these tests by health insurance providers, their widespread clinical implementation, and improvements in quality of health care. We have developed a strategic five-phase roadmap to foster the clinical validation of biomarkers

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  2. Early diagnosis of Alzheimer's disease: the role of biomarkers including advanced EEG signal analysis. Report from the IFCN-sponsored panel of experts.

    P. M. Rossini, R. Di Iorio, F. Vecchio, et al. · 2020 · Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 207 citations

    Alzheimer's disease (AD) is the most common neurodegenerative disease among the elderly with a progressive decline in cognitive function significantly affecting quality of life. Both the prevalence and emotional and financial burdens of AD on patients, their families, and society are predicted to grow significantly in the near future, due to a prolongation of the lifespan. Several lines of evidence suggest that modifications of risk-enhancing life styles and initiation of pharmacological and non-pharmacological treatments in the early stage of disease, although not able to modify its course, helps to maintain personal autonomy in daily activities and significantly reduces the total costs of

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  3. AI-Driven Innovations in Alzheimer's Disease: Integrating Early Diagnosis, Personalized Treatment, and Prognostic Modelling.

    Mayur B. Kale, N. Wankhede, Rupali S. Pawar, et al. · 2024 · Ageing research reviews · 169 citations

    Alzheimer's disease (AD) presents a significant challenge in neurodegenerative research and clinical practice due to its complex etiology and progressive nature. The integration of artificial intelligence (AI) into the diagnosis, treatment, and prognostic modelling of AD holds promising potential to transform the landscape of dementia care. This review explores recent advancements in AI applications across various stages of AD management. In early diagnosis, AI-enhanced neuroimaging techniques, including MRI, PET, and CT scans, enable precise detection of AD biomarkers. Machine learning models analyze these images to identify patterns indicative of early cognitive decline. Additionally, AI a

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  4. Neuroinflammatory Processes, A1 Astrocyte Activation and Protein Aggregation in the Retina of Alzheimer’s Disease Patients, Possible Biomarkers for Early Diagnosis

    A. Grimaldi, N. Pediconi, Francesca Oieni, et al. · 2019 · Frontiers in Neuroscience · 146 citations

    Alzheimer’s disease (AD), a primary cause of dementia in the aging population, is characterized by extracellular amyloid-beta peptides aggregation, intracellular deposits of hyperphosphorylated tau, neurodegeneration and glial activation in the brain. It is commonly thought that the lack of early diagnostic criteria is among the main causes of pharmacological therapy and clinical trials failure; therefore, the actual challenge is to define new biomarkers and non-invasive technologies to measure neuropathological changes in vivo at pre-symptomatic stages. Recent evidences obtained from human samples and mouse models indicate the possibility to detect protein aggregates and other pathological

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  5. Biomarkers for Alzheimer’s Disease Early Diagnosis

    E. Ausó, V. Gómez-Vicente, Gema Esquiva · 2020 · Journal of Personalized Medicine · 129 citations

    Alzheimer’s disease (AD) is the most common cause of dementia, affecting the central nervous system (CNS) through the accumulation of intraneuronal neurofibrillary tau tangles (NFTs) and β-amyloid plaques. By the time AD is clinically diagnosed, neuronal loss has already occurred in many brain and retinal regions. Therefore, the availability of early and reliable diagnosis markers of the disease would allow its detection and taking preventive measures to avoid neuronal loss. Current diagnostic tools in the brain, such as magnetic resonance imaging (MRI), positron emission tomography (PET) imaging, and cerebrospinal fluid (CSF) biomarkers (Aβ and tau) detection are invasive and expensive. Bra

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  6. Retinal biomarkers for Alzheimer’s disease and vascular cognitive impairment and dementia (VCID): implication for early diagnosis and prognosis

    C. Czakó, T. Kovács, Z. Ungvari, et al. · 2020 · GeroScience · 120 citations

    Cognitive impairment and dementia are major medical, social, and economic public health issues worldwide with significant implications for life quality in older adults. The leading causes are Alzheimer’s disease (AD) and vascular cognitive impairment/dementia (VCID). In both conditions, pathological alterations of the cerebral microcirculation play a critical pathogenic role. Currently, the main pathological biomarkers of AD—β-amyloid peptide and hyperphosphorylated tau proteins—are detected either through cerebrospinal fluid (CSF) or PET examination. Nevertheless, given that they are invasive and expensive procedures, their availability is limited. Being part of the central nervous system,

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  7. Identification of potential blood biomarkers for early diagnosis of Alzheimer’s disease through RNA sequencing analysis

    Daichi Shigemizu, Taiki Mori, Shintaro Akiyama, et al. · 2020 · Alzheimer's Research & Therapy · 81 citations

    With demographic shifts toward older populations, the number of people with dementia is steadily increasing. Alzheimer’s disease (AD) is the most common cause of dementia, and no curative treatment is available. The current best strategy is to delay disease progression and to practice early intervention to reduce the number of patients that ultimately develop AD. Therefore, promising novel biomarkers for early diagnosis are urgently required. To identify blood-based biomarkers for early diagnosis of AD, we performed RNA sequencing (RNA-seq) analysis of 610 blood samples, representing 271 patients with AD, 91 cognitively normal (CN) adults, and 248 subjects with mild cognitive impairment (MCI

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  8. Advances in retina imaging as potential biomarkers for early diagnosis of Alzheimer’s disease

    Ying Zhang, Yan-Jiang Wang, Ce Shi, et al. · 2021 · Translational Neurodegeneration · 80 citations

    As the most common form of dementia, Alzheimer’s disease (AD) is characterized by progressive cognitive impairments and constitutes a major social burden. Currently, the invasiveness and high costs of tests have limited the early detection and intervention of the disease. As a unique window of the brain, retinal changes can reflect the pathology of the brain. In this review, we summarize current understanding of retinal structures in AD, mild cognitive impairment (MCI) and preclinical AD, focusing on neurodegeneration and microvascular changes measured using optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) technologies. The literature suggests that the i

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  9. Biomarkers for early diagnosis of Alzheimer disease: ‘ALZheimer ASsociated gene’– a new blood biomarker?

    K. A. Jellinger, Bernd Janetzky, Johannes Attems, et al. · 2008 · Journal of Cellular and Molecular Medicine · 70 citations

    Simple, non-invasive tests for an early detection of degenerative dementia by use of biomarkers are urgently required. However, up to the present, no validated extracerebral diagnostic markers (plasma/serum, platelets, urine, connective tissue) for the early diagnosis of Alzheimer disease (AD) are available. In disease stages with evident cognitive disturbances, the clinical diagnosis of probable AD is made with around 90% accuracy using modern clinical, neuropsychological and imaging methods. Diagnostic sensitivity and specificity even in early disease stages are improved by CSF markers, in particular combined tau and amyloid beta peptides (Abeta) and plasma markers (eg, Abeta-42/Abeta-40 r

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  11. CSF Biomarkers in the Early Diagnosis of Mild Cognitive Impairment and Alzheimer’s Disease

    Vasileios Papaliagkas, K. Kalinderi, P. Vareltzis, et al. · 2023 · International Journal of Molecular Sciences · 67 citations

    Alzheimer’s disease (AD) is a rapidly growing disease that affects millions of people worldwide, therefore there is an urgent need for its early diagnosis and treatment. A huge amount of research studies are performed on possible accurate and reliable diagnostic biomarkers of AD. Due to its direct contact with extracellular space of the brain, cerebrospinal fluid (CSF) is the most useful biological fluid reflecting molecular events in the brain. Proteins and molecules that reflect the pathogenesis of the disease, e.g., neurodegeneration, accumulation of Abeta, hyperphosphorylation of tau protein and apoptosis may be used as biomarkers. The aim of the current manuscript is to present the most

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  12. Alzheimer Disease Biomarkers: Moving from CSF to Plasma for Reliable Detection of Amyloid and tau Pathology

    Ju-Hee Kang, M. Korecka, Edward B. Lee, et al. · 2023 · Clinical chemistry · 56 citations

    BACKGROUND: Development of validated biomarkers to detect early Alzheimer disease (AD) neuropathology is needed for therapeutic AD trials. Abnormal concentrations of “core” AD biomarkers, cerebrospinal fluid (CSF) amyloid beta1–42, total tau, and phosphorylated tau correlate well with neuroimaging biomarkers and autopsy findings. Nevertheless, given the limitations of established CSF and neuroimaging biomarkers, accelerated development of blood-based AD biomarkers is underway. CONTENT: Here we describe the clinical significance of CSF and plasma AD biomarkers to detect disease pathology throughout the Alzheimer continuum and correlate with imaging biomarkers. Use of the AT(N) classification

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  13. Role of Fluid Biomarkers and PET Imaging in Early Diagnosis and its Clinical Implication in the Management of Alzheimer’s Disease

    S. Hameed, J. Fuh, V. Senanarong, et al. · 2020 · Journal of Alzheimer's Disease Reports · 45 citations

    Clinical diagnosis of Alzheimer’s disease (AD) is based on symptoms; however, the challenge is to diagnose AD at the preclinical stage with the application of biomarkers and initiate early treatment (still not widely available). Currently, cerebrospinal fluid (CSF) amyloid-β 42 (Aβ42) and tau are used in the clinical diagnosis of AD; nevertheless, blood biomarkers (Aβ42 and tau) are less predictive. Amyloid-positron emission tomography (PET) imaging is an advancement in technology that uses approved radioactive diagnostic agents (florbetapir, flutemetamol, or florbetaben) to estimate Aβ neuritic plaque density in adults with cognitive impairment evaluated for AD and other causes of cognitive

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  15. The Role of Salivary Biomarkers in the Early Diagnosis of Alzheimer’s Disease and Parkinson’s Disease

    Patrycja Pawlik, K. Błochowiak · 2021 · Diagnostics · 41 citations

    Many neurodegenerative diseases present with progressive neuronal degeneration, which can lead to cognitive and motor impairment. Early screening and diagnosis of neurodegenerative diseases such as Alzheimer’s disease (AD) and Parkinson’s disease (PD) are necessary to begin treatment before the onset of clinical symptoms and slow down the progression of the disease. Biomarkers have shown great potential as a diagnostic tool in the early diagnosis of many diseases, including AD and PD. However, screening for these biomarkers usually includes invasive, complex and expensive methods such as cerebrospinal fluid (CSF) sampling through a lumbar puncture. Researchers are continuously seeking to fin

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  16. Combined Biomarkers for Early Alzheimer Disease Diagnosis

    Barbara Borroni, Enrico Premi, Mónica Di Luca, et al. · 2007 · Current Medicinal Chemistry · 36 citations

    Few public health problems have captured the attention of the biomedical and lay communities alike as has Alzheimer Disease (AD). Several questions remain still open in disease management, as the necessity to delineate disease process from "normal ageing". In the last few years, Mild Cognitive Impairment (MCI) has received significant attention, thus it represents the major risk factor for AD. Not all people diagnosed as having MCI, however, will develop AD, hence there is a need to reliably predict progression. To this aim, different biomarkers have been proposed with the attempt to identify MCI people who already have pre-clinical AD. Neuropsychological assessment, peripheral and CSF bioma

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  17. Omics-based Biomarkers for the Early Alzheimer Disease Diagnosis and Reliable Therapeutic Targets Development

    Carmen Peña‐Bautista, Miguel Baquero, Máximo Vento, et al. · 2018 · Current Neuropharmacology · 35 citations

    BACKGROUND: Alzheimer's disease (AD), the most common cause of dementia in adulthood, has great medical, social, and economic impact worldwide. Available treatments result in symptomatic relief, and most of them are indicated from the early stages of the disease. Therefore, there is an increasing body of research developing accurate and early diagnoses, as well as diseasemodifying therapies. OBJECTIVE: Advancing the knowledge of AD physiopathological mechanisms, improving early diagnosis and developing effective treatments from omics-based biomarkers. METHODS: Studies using omics technologies to detect early AD, were reviewed with a particular focus on the metabolites/lipids, micro-RNAs and

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  18. Epigenetic Peripheral Biomarkers for Early Diagnosis of Alzheimer’s Disease

    C. Villa, A. Stoccoro · 2022 · Genes · 32 citations

    Alzheimer’s disease (AD) is a progressive neurodegenerative disorder and represents the leading cause of cognitive impairment and dementia in older individuals throughout the world. The main hallmarks of AD include brain atrophy, extracellular deposition of insoluble amyloid-β (Aβ) plaques, and the intracellular aggregation of protein tau in neurofibrillary tangles. These pathological modifications start many years prior to clinical manifestations of disease and the spectrum of AD progresses along a continuum from preclinical to clinical phases. Therefore, identifying specific biomarkers for detecting AD at early stages greatly improves clinical management. However, stable and non-invasive b

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  19. Evaluating p-tau217 and p-tau231 as Biomarkers for Early Diagnosis and Differentiation of Alzheimer’s Disease: A Narrative Review

    D. Jarek, Hubert Mizerka, Jarosław Nuszkiewicz, et al. · 2024 · Biomedicines · 30 citations

    The escalating prevalence of Alzheimer’s disease (AD) highlights the urgent need to develop reliable biomarkers for early diagnosis and intervention. AD is characterized by the pathological accumulation of amyloid-beta plaques and tau neurofibrillary tangles. Phosphorylated tau (p-tau) proteins, particularly p-tau217 and p-tau231, have been identified as promising biomarker candidates to differentiate the disease progression from preclinical stages. This narrative review is devoted to a critical evaluation of the diagnostic accuracy, sensitivity, and specificity of p-tau217 and p-tau231 levels in the detection of AD, measured in plasma, serum, and cerebrospinal fluid, compared to established

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  21. A Possible New Diagnostic Biomarker in Early Diagnosis of Alzheimers Disease

    Felix Kork, Jan Holthues, Rainer Hellweg, et al. · 2009 · Current Alzheimer Research · 28 citations

    Early diagnosis in patients with Alzheimer's disease (AD) is of great importance since only a sufficient treatment in early stages of this disease helps to keep patients in an autonomous state for as long as possible. Until now, there is no single diagnostic biomarker for AD derived from material routinely obtained. In this study, proton nuclear magnetic resonance (1H-NMR) spectra of the cerebrospinal fluid (CSF) of AD patients were compared with 1H-NMR spectra of the CSF of healthy control subjects using a metabonomic approach. The 1H-NMR spectra of CSF of AD patients showed specific multiplets at 2.15 ppm and 2.45 ppm, which could not be detected in the majority (59.3% and 70.4%, respectiv

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  22. Use of ocular biomarkers as a potential tool for early diagnosis of Alzheimer's disease

    A. Singh, Snehil Verma · 2020 · Indian Journal of Ophthalmology · 24 citations

    Alzheimer's disease (AD) is the most common neurodegenerative disease worldwide which unfortunately has no known effective cure to date. Despite many clinical trials indicating the effectiveness of preclinical treatment, a sensitive tool for screening of AD is yet to be developed. Due to multiple similarities between ocular and the brain tissue, the eye is being explored by researchers for this purpose, with utmost attention focused on the retinal tissue. Besides visual functional impairment, neuronal degeneration and apoptosis, retinal nerve fiber degeneration, increase in the cup-to-disc ratio, and retinal vascular thinning and tortuosity are the changes observed in the retinal tissue whic

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  23. Digital twins and non-invasive recordings enable early diagnosis of Alzheimer’s disease

    L. G. Amato, M. Lassi, A. A. Vergani, et al. · 2025 · Alzheimer's Research & Therapy · 23 citations

    The diagnosis of Alzheimer’s disease (AD) in its preclinical stages, such as subjective cognitive decline (SCD), is crucial for a timely management of the condition. However, current early diagnostic methods are unsuitable for preclinical screenings due to limited availability and diagnostic reliability. Additionally, reliance on invasive and scarcely available methods exacerbates the underdiagnosis of AD in its preclinical forms. We introduce an early diagnostic pipeline based on the Digital Alzheimer’s Disease Diagnosis (DADD) digital twin model, which derives personalized AD biomarkers from non-invasive electroencephalographic (EEG) recordings. These biomarkers reconstruct patient-specifi

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  24. Salivary biomarkers: The early diagnosis of Alzheimer's disease

    Sophia Nazir · 2024 · Aging Medicine · 22 citations

    The precise identification of Alzheimer's disease and other prevalent neurodegenerative diseases remains a difficult issue that requires the development of early detection of the disease and inexpensive biomarkers that can replace the present cerebrospinal fluid and imaging biomarkers. Blood biomarkers, such as amyloid and neurofilament light, have been emphasized as an important and practical tool in a testing or examination procedure thanks to advancements in ultra‐sensitive detection techniques. Although saliva is not currently being researched for neurodegenerative diseases, it is an important source of biomarkers that can be used for the identification of diseases and has some advantage

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