(P57) Diagnosis of Alzheimer’s Disease in the Preclinical Stage

Introduction/

Objective: In 2015, The number of Alzheimer’s disease (AD) cases in the world was 44 million. This number is anticipated to double by 2030. As per the center for disease control (CDC), AD counts as the number six cause of death in the United States.< br>AD is a multifactorial disease with its formation still not fully grasped. Neurodegeneration and Beta-Amyloid peptide deposition are believed to be the pathology behind the development of AD. The preclinical stage comes to be a central research focus as it has been claimed that early obtrusion may offer the best chance of therapeutic accomplishment. The aim of this study is to explore the various diagnostic modalities used to capture AD in its preclinical stage focusing on genetics, biomarkers, and neuroimaging studies.

Design/Methodology: This is a literature review study. A total of 65 peer-reviewed articles that were published in the English language between 2015-2022 were collected from PubMed and Google Scholar. Keywords used; early-onset Alzheimer’s Disease (EOAD), late-onset Alzheimer’s Disease (LOAD), AD diagnosis, preclinical stage, biomarkers, genetics, neuroimaging. All team members reviewed and verified the collected articles.

Results: 18 papers discussing genetics in AD were collected. 6 papers represented LOED, and 4 of them supported that APOE4 has a strong association with the development of LOAD. 8 papers focused on the development of the EOAD, and all of them represented that PSEN1, PSEN2, and APP gene mutations are strongly linked to the development of EOAD. 26 papers discussed biomarkers in AD, 18 papers supported the possibility of applying Amyloid beta-42 (Aβ42) in the diagnosis of AD, while 13 papers discussed the presence of the P-tau in the CSF and the blood which makes it a potential diagnostic tool for AD. 21 papers collected regarding the utilization of the neuroimaging. 5 studies supported PET/MRI combination scanning as it has achieved significant improvement in detecting structural changes in the brain of AD patients.

Conclusion/

Discussion: We concluded that many genetic mutations have been associated with the development of AD, but their contribution to it is still not clear. Biomarkers analyses and neuroimaging changes showed that the fundamental pathology of AD commences 20 years before the onset of the clinical symptoms. The diagnosis of AD in the preclinical stage offers the patient the advantage of early treatment before the development of dementia or even the chance to participate in disease-modifying clinical trials.
P-tau in the CSF and the blood, along with PET/MRI combination scanning, can play a future role in diagnosing preclinical AD. Further studies are needed to assess the effectiveness of these diagnostic modalities in a clinical settings.