Parkinson's Disease and Parkinsonisms (Istit. Auxologico)
Parkinson’s Disease, like other parkinsonisms, represents a growing group of pathologies in modern society across all genders. They require careful diagnosis, especially in light of emerging therapies increasingly dictated by pathogenesis. Genetic causes or predisposing mutations account for less than 20% of cases, leaving epigenetics and environmental factors to explain the rest. Parkinson’s Disease is a systemic condition with multi-organ involvement and clinical manifestations that include visceral symptoms due to the involvement of the autonomic nervous system, often preceded by sleep disorders. Patient care is multidisciplinary, with specific attention to cognitive and behavioral manifestations. The IRCCS Istituto Auxologico Italiano offers comprehensive patient care, including neurorehabilitation programs.
The etiology of Parkinson’s Disease is multifactorial, involving a combination of genetic and environmental factors. The primary pathological marker is the accumulation of alpha-synuclein in the brain, which leads to the progressive loss of dopaminergic neurons. However, the disease is systemic, with alpha-synuclein aggregates occurring in various organs such as the colon, skin, salivary glands, etc. The search for this biomarker is possible in various tissues, as well as in cerebrospinal fluid and peripheral blood, allowing for early diagnosis. Common to other neurodegenerative diseases, the causes of the different forms include excitotoxicity, oxidative stress, neuroinflammation, and mitochondrial dysfunction.
- The disease presents a preliminary phase characterized by sleep disorders (RBD), hyposmia, and constipation.
- Unilateral tremor (which may be absent), bradykinesia, and plastic hypertonicity of a limb herald the disease, along with postural instability during push-tests.
- The progression of the illness is personalized and depends on the response to therapy; it can extend for many years and may be accompanied by potential cognitive decline and a progressive reduction in motor skills during the final stages.
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Clinical Evaluation: medical history (anamnesis), neurological examination, and disease-specific rating scales.
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Neuroimaging: Magnetic Resonance Imaging (MRI) for differential diagnosis and study of the dopaminergic metabolism (DaTscan).
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Biomarkers: cerebrospinal fluid (CSF) analysis to detect alpha-synuclein and other biomarkers.
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In-depth Genetic Investigation: performed if family history suggests a genetic component.
Available therapies
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Symptomatic Medications: L-DOPA (oral, subcutaneous), Duodopa (levodopa/carbidopa intestinal gel), dopaminergic agonists, monoamine oxidase inhibitors (MAO-B inhibitors), catechol-O-methyltransferase inhibitors (COMT inhibitors), amantadine, safinamide, opicapone.
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Non-Pharmacological Interventions: physiotherapy, dance therapy (specifically Tango therapy).
Research in progress
- Sviluppo di scale di valutazione cognitiva e comportamentale.
- Ricerca di nuovi biomarcatori per la diagnosi precoce.
- Studi genetici per comprendere il ruolo dei fattori ereditari nella malattia.
- Terapie personalizzate basate su profili genetici e molecolari dei pazienti.
- Ricerche genetiche in collaborazione con l’ Università di Tunisi.
Reference laboratory
Contacts and informations
Key Contacts: Vincenzo Silani, Andrea Ciammola, Nicola Ticozzi, Barbara Poletti, Antonia Ratti
E-mail / PH: vincenzo@silani.com / 02 61911 2937
Link i: auxologico.it (Parkinson’s Disease)