Blood-Based Biomarkers for Early Alzheimer's Disease Diagnosis in Real-World Settings.

Perneczky, Robert; Jessen, Frank; Hansen, Niels; Group, German Network Memory Clinics- Diagnostic Tools Working; Laske, Christoph; Wiltfang, Jens; Hofmann, Anna; Frölich, Lutz; Düzel, Emrah; Priller, Josef; Grimmer, Timo

doi:10.1007/978-1-0716-3774-6_1

Contribution to a book

DZNE-2024-00238

Blood-Based Biomarkers for Early Alzheimer's Disease Diagnosis in Real-World Settings.

Perneczky, R. (First author)DZNE* ; Hansen, N. ; Hofmann, A.DZNE* ; Laske, C.DZNE* ; Priller, J.DZNE* ; Grimmer, T. ; Frölich, L. ; Düzel, E.DZNE* ; Jessen, F.DZNE* ; Wiltfang, J. (Last author)DZNE* ; Group, G. N. M. C. D. T. W. (Collaboration Author)

2024
Springer US New York, NY
ISBN: 978-1-0716-3773-9 (print), 978-1-0716-3774-6 (electronic)

Biomarkers for Alzheimer’s Disease Drug Development / Perneczky, Robert (Editor) ; New York, NY : Springer US, 2024, Chapter 1 ; ISSN: 1064-3745=1940-6029 ; ISBN: 978-1-0716-3773-9=978-1-0716-3774-6 ; doi:10.1007/978-1-0716-3774-6 New York, NY : Springer US, Methods in Molecular Biology 2785, 3 - 14 (2024) [10.1007/978-1-0716-3774-6_1]

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Abstract: As our knowledge about the biology of Alzheimer's disease (AD) expands and we recognize the significance of early intervention for effective treatment, there is a shift in focus toward detecting the disease at an early stage. AD is characterized by the accumulation of misfolded amyloid-β (Aβ) and phosphorylated tau proteins in the brain, leading to the formation of senile plaques and neurofibrillary tangles. While a definitive diagnosis of AD can only be confirmed through autopsy by examining these pathological features, there are now reliable methods available for diagnosing the disease in living individuals. These methods involve analyzing cerebrospinal fluid and using positron emission tomography to accurately assess the presence of Aβ and tau proteins. While these diagnostic markers have shown high accuracy in memory-clinic populations, they do have limitations such as the requirement for invasive lumbar puncture or exposure to ionizing radiation. Additionally, they are not easily accessible outside of specialized healthcare settings. Blood-based biomarkers of the core pathological features of AD are being developed, showing promise for less invasive, scalable identification of AD cases in the community. The advantages for the healthcare systems of this development are obvious, but the diagnostic performance of blood-based biomarkers in broader, non-selected populations outside of retrospective analyses and research cohorts still requires further investigation, including the combination with more effective neuropsychological assessments such as digital cognitive test solutions.

Keyword(s): Humans (MeSH) ; Alzheimer Disease: cerebrospinal fluid (MeSH) ; tau Proteins: cerebrospinal fluid (MeSH) ; Retrospective Studies (MeSH) ; Amyloid beta-Peptides: cerebrospinal fluid (MeSH) ; Biomarkers: cerebrospinal fluid (MeSH) ; Early diagnosis of Alzheimer’s disease and dementia ; Early diagnosis of Alzheimer’s disease and dementia ; Early and targeted treatment and prevention of neurodegeneration ; Early diagnosis of Alzheimer’s disease and dementia ; Patient and service user value ; Scalable diagnostic technologies ; Subjective cognitive impairment and mild cognitive impairment ; tau Proteins ; Amyloid beta-Peptides ; Biomarkers