Parkinson's disease
Parkinson’s disease is a progressive neurodegenerative disorder, first described in 1817 by the English physician James Parkinson in his famous treatise “An Essay on the Shaking Palsy.” After Alzheimer’s, it is the second most common neurodegenerative disease in the world. It is estimated to have affected approximately 11.77 million people worldwide in 2021, with a prevalence that increases with age, affecting about 1% of the population over 60.
Over the last twenty years, research has made significant progress in understanding the causes of Parkinson’s disease. Genetic mutations responsible for familial forms, known as monogenic forms, have been identified, along with variants that increase the risk of developing the sporadic form. However, in most cases, the origin of the disease is multifactorial, resulting from the complex interaction between genetic predisposition, environmental factors, and brain aging. A key element in the underlying mechanisms of the disease is the abnormal accumulation of a protein called alpha-synuclein, which tends to aggregate inside neurons into structures known as Lewy bodies. This process is considered one of the central events in the nerve cell degeneration that characterizes Parkinson’s diseas
The main symptoms of Parkinson’s disease relate to motor control and include resting tremor, muscle rigidity, slowness of movement (bradykinesia), and progressive postural instability. The onset can vary significantly from person to person, but in many cases, it manifests asymmetrically and around the age of 60–70. However, early-onset forms also exist, starting before age 50. In addition to motor symptoms, non-motor manifestations are also very common and often precede the clinical onset itself. These include a reduced sense of smell (hyposmia), sleep disorders (such as insomnia, fragmented sleep, or abnormal motor behaviors during REM sleep), chronic constipation, and a variety of cognitive, visual, and behavioral disorders that can significantly impact quality of life.
The diagnosis of Parkinson’s disease is primarily clinical and is based on the observation of bradykinesia—a slowness of voluntary movement—which represents an essential criterion. To establish a diagnosis, bradykinesia must be associated with at least one other characteristic sign, such as resting tremor, muscle rigidity, or postural instability. The diagnostic framework is completed by a thorough neurological evaluation and, in less clear cases, can be supported by imaging tests such as a DaTSCAN SPECT, which is useful for assessing the integrity of the dopaminergic system. In selected situations, genetic testing or emerging biomarkers are also used, with the aim of achieving an earlier and more accurate diagnosis.
Available therapies
Currently, there are no cures capable of stopping or reversing the progression of Parkinson’s disease, but available treatments are effective in significantly improving both motor and non-motor symptoms. Pharmacological therapy is primarily based on the use of dopaminergic drugs, including levodopa, dopamine agonists, and enzyme inhibitors that enhance their effectiveness or prolong their action. In selected cases, particularly when medications alone can no longer adequately control symptoms, Deep Brain Stimulation (DBS) may be indicated—a neurosurgical procedure that allows for the modulation of activity in specific brain areas involved in movement control. These strategies are complemented by rehabilitative interventions, including physiotherapy, speech therapy, and psychological support, which are fundamental for maintaining independence and quality of life. Scientific research today is heavily committed to developing disease-modifying therapies. Among the most promising are monoclonal antibodies targeting alpha-synuclein, gene therapies, and pharmacological treatments aimed at specific molecular mechanisms involved in neurodegenerative processes.
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Research in progress
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Genetic studies to better understand the role of hereditary factors in the disease.
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Studies on neuronal cell models, such as midbrain organoids derived from induced pluripotent stem cells (iPSCs), to clarify the pathogenic mechanisms involved in the development and progression of the disease.
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Identification of new biomarkers for early diagnosis.
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Clinical trials.
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Network projects within the Neuroscience Virtual Institutes, such as PARKNET, aimed at harmonizing data collection, diagnostic methodologies, and research.
Reference laboratory
Contacts and informations
Dott. Alessio Di Fonzo
Mail: alessio.difonzo@policlinico.mi.it
Segreteria: elena.oriani@policlinico.mi.it