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Methods Mol Biol. 2018;1750:139-155. doi: 10.1007/978-1-4939-7704-8_9.

Blood-Based Biomarker Screening with Agnostic Biological Definitions for an Accurate Diagnosis Within the Dimensional Spectrum of Neurodegenerative Diseases.

Author information

1
AXA Research Fund & UPMC Chair, F-75013, Paris, France.
2
Sorbonne Université, AP-HP, GRC n° 21, Alzheimer Precision Medicine (APM), Hôpital de la Pitié-Salpêtrière, Boulevard de l'hôpital, F-75013, Paris, France.
3
Institut du Cerveau et de la Moelle Épinière (ICM), INSERM U 1127, CNRS UMR 7225, Boulevard de l'hôpital, F-75013, Paris, France.
4
Institut de la Mémoire et de la Maladie d'Alzheimer (IM2A), Département de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP, Boulevard de l'hôpital, F-75013, Paris, France.
5
Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
6
AXA Research Fund & UPMC Chair, F-75013, Paris, France. slista@libero.it.
7
Sorbonne Université, AP-HP, GRC n° 21, Alzheimer Precision Medicine (APM), Hôpital de la Pitié-Salpêtrière, Boulevard de l'hôpital, F-75013, Paris, France. slista@libero.it.
8
Institut du Cerveau et de la Moelle Épinière (ICM), INSERM U 1127, CNRS UMR 7225, Boulevard de l'hôpital, F-75013, Paris, France. slista@libero.it.
9
Institut de la Mémoire et de la Maladie d'Alzheimer (IM2A), Département de Neurologie, Hôpital de la Pitié-Salpêtrière, AP-HP, Boulevard de l'hôpital, F-75013, Paris, France. slista@libero.it.
10
Institute for Healthy Aging, University of North Texas Health Science Center, Fort Worth, TX, USA.
11
Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
12
Department of Radiology"Athinoula A. Martinos", Center for Biomedical Imaging, Boston, MA, USA.
13
Harvard Medical School, Boston, MA, USA.

Abstract

The discovery, development, and validation of novel candidate biomarkers in Alzheimer's disease (AD) and other neurodegenerative diseases (NDs) are increasingly gaining momentum. As a result, evolving diagnostic research criteria of NDs are beginning to integrate biofluid and neuroimaging indicators of pathophysiological mechanisms. More than 10% of people aged over 65 suffer from NDs. There is an urgent need for a refined two-stage diagnostic model to first initiate an early, sensitive, and noninvasive process in primary care settings. Individuals that meet detection criteria will then be channeled to more specific, costly (positron-emission tomography), and invasive (cerebrospinal fluid) assessment methods for confirmatory biological characterization and diagnosis.A reliable and sensitive blood test for AD and other NDs is not yet established; however, it would provide the golden screening gate for an efficient primary care management. A limitation to the development of a large-scale blood-screening biomarker-based test is the traditional application of clinically descriptive criteria for the categorization of single late-stage ND constructs. These are genetically and biologically heterogeneous, reflected in multiple pathophysiological mechanisms and subsequent pathologies throughout a dimensional continuum. Evidence suggests that a shared, "open-source" integrated multilevel categorization of NDs that clusters individuals based on descriptive clinical phenotypes and pathophysiological biomarker signatures will provide the next incremental step toward an improved diagnostic process of NDs. This intermediate objective toward unbiased biomarker-guided early detection of individuals at risk for NDs is currently carried out by the international pilot Alzheimer Precision Medicine Initiative Cohort Program (APMI-CP).

KEYWORDS:

Alzheimer precision medicine initiative; Alzheimer’s disease; Biomarkers; Blood; Neurodegenerative diseases; Pathophysiology; Precision medicine; Screening; Systems biology; Systems neurophysiology

PMID:
29512070
DOI:
10.1007/978-1-4939-7704-8_9
[Indexed for MEDLINE]

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