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Alzheimer's disease

Alzheimer’s disease is a progressive and irreversible neurodegenerative disorder and is the most common cause of dementia in the elderly population. It is characterized by a steady decline in cognitive functions, primarily memory, as well as other functional abilities such as orientation and language, with a significant impact on the quality of life for both patients and their families. The disease affects approximately 47 million people worldwide, predominantly females, with a ratio of about 2:1 compared to males. After the age of 60, its prevalence doubles every decade.

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The etiology of Alzheimer’s disease is multifactorial. The primary pathological hallmarks are the accumulation of beta-amyloid plaques and hyperphosphorylated tau protein tangles in the brain, which lead to the progressive loss of neurons and synapses. Genetic factors, such as mutations in the APP, PSEN1, and PSEN2 genes, cause early-onset hereditary forms, while the APOE-ε4 allele increases the risk of sporadic forms. Metabolic factors (hypertension, diabetes, obesity, smoking, and a sedentary lifestyle), along with inflammatory and autoimmune factors, contribute to neuronal damage, accelerating cognitive decline.

Alzheimer’s disease manifests with a progressively worsening cognitive decline. Early symptoms include mild short-term memory loss and disorientation. Over time, language deficits, behavioral changes, motor difficulties, and loss of independence also emerge. In advanced stages, the patient becomes completely dependent, with impairment of vital functions, as well as difficulties in swallowing and communication. There are also atypical clinical variants of the disease, including the frontal variant, logopenic variant primary progressive aphasia, and posterior cortical atrophy, which present with symptoms that differ from the classic form.

The diagnosis of Alzheimer’s disease is based on neurological evaluation, neuropsychological testing, and instrumental investigations. Neuropsychological tests are fundamental for assessing and monitoring cognitive decline over time, while Magnetic Resonance Imaging (MRI) and FDG-Positron Emission Tomography (PET) allow for the evaluation of cerebral atrophy and hypometabolism, respectively. Finally, lumbar puncture and amyloid-target PET imaging can detect the accumulation of β-amyloid and are crucial for the early diagnosis of Alzheimer’s disease.

Available therapies

Currently, there is no cure for Alzheimer’s disease; however, therapies aim to slow its progression and improve quality of life. Among these, the drugs used include acetylcholinesterase inhibitors (donepezil and rivastigmine) and memantine, an NMDA receptor antagonist.
New drugs, such as lecanemab and donanemab, are anti-amyloid monoclonal antibodies that aim to reduce β-amyloid deposits in the brain, thereby slowing the progression of Alzheimer’s. These drugs have already been approved in several countries for certain early-stage forms of the disease.

Research in progress

Identification of new biomarkers for early diagnosis.
Genetic studies to better understand the role of hereditary factors in the disease.
Evaluation of strategies to address modifiable risk factors, such as cardiovascular disease management and lifestyle interventions.
Pre-clinical studies to identify the pathogenic mechanisms involved in the development and progression of the disease.
Clinical trials targeting the accumulation of toxic proteins (disease-modifying therapies) or aiming to improve patient symptoms (symptomatic therapies).
Projects on non-pharmacological interventions and support strategies for families and caregivers.