FROM NEUROSCIENCE LABORATORY TO NEUROLOGY CLINIC

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COGNITIVE, GENETIC, AND NEURAL BIOMARKERS OF ALZHEIMER’S DISEASE

Miray Budak

Rutgers University, Center for Molecular and Behavioral Neuroscience, Aging & Brain Health Alliance, Newark, New Jersey, USA

Budak M. Cognitive, Genetic, and Neural Biomarkers of Alzheimer’s Disease. In: Hanoğlu L, editor. From Neuroscience Laboratory to Neurology Clinic. 1st ed. Ankara: Türkiye Klinikleri; 2025. p.183193.

ABSTRACT

Alzheimer’s disease (AD) is a progressive neurodegenerative disorder characterized by the presence of amyloidb (Ab) plaques and neurofibrillary tangles composed of hyperphosphorylated tau (ptau) in the brain. Its neuropathology causes atrophy of brain structures, affecting cognitive function. There is no definitive cure for this disease yet, but early diagnosis is crucial to help slow its progression, and the identification of biomarkers will contribute greatly to the solution. As research progresses, cognitive, genetic and neural biomarkers have emerged as valuable tools for early diagnosis, monitoring disease progression and guiding treatment strategies in AD. Cognitive biomarkers, such as memory performance and learning flexibility, reflect functional impairments that often precede clinical symptoms. Genetic biomarkers reveal susceptibility to AD and help identify individuals at higher risk. Neural biomarkers derived from neuroimaging techniques offer a window into brain changes in AD, including regional atrophy, altered connectivity and the presence of amyloid and tau pathologies. The importance of integrating these various biomarkers to improve diagnostic accuracy, enable earlier detection and support the development of personalized therapeutic approaches is highlighted. By combining cognitive assessments, genetic profiling and neuroimaging, researchers and clinicians can more effectively monitor disease progression and tailor interventions to the needs of individual patients. This biomarkerdriven approach holds promise for improving outcomes and advancing our understanding of AD.

Keywords: Alzheimer’s disease; Cognition disorders; Genetics; Neuroimaging; Blood proteins; Biomarkers

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