Parkinson's Disease Panel
Parkinson's Disease Panel
Parkinson's disease has a slow and progressive course and, although it occurs in 70% of cases in individuals over the age of 65, it can occur early even before the age of 50.
The neuromotor symptoms, as the disease progresses, become more and more limiting and disabling: the great difficulty in making fluid movements, which affects both automatic acts such as swallowing and walking, and fine movements such as buttoning or using the cell phone, will make affected subjects increasingly dependent on outside help. Furthermore, these symptoms can be associated with non-motor manifestations such as neuropsychiatric and vegetative-autonomic system changes (regulation of blood pressure, bladder functions, temperature and digestion), sleep-wake rhythm and sensory functions. Some degree of cognitive decline may also appear in later stages.
Parkinson's disease has a multifactorial genesis, to which environmental and genetic risk factors contribute: a family history for this disease increases the risk of onset; moreover, about 5-10% of affected subjects have an autosomal dominant inheritance pattern.
Several genes related to the development of Parkinson's have been identified, in its various forms. One of the most important and known genes is the parkin gene PRKN: more than 200 mutations are known, responsible for a juvenile form (which appears before the age of 20) and some forms with a later onset, around 50. Other genes that are particularly important in the genesis of the disease are LRRK2, PINK1 and SNCA.
Others, not strictly causative, seem to modify the risk of onset: GBA and UCHL1 are examples.
Furthermore, in numerous cases of Parkinson's, there is the intraneuronal accumulation of the so-called "Lewy bodies", cytoplasmic inclusions of the alpha-synuclein protein which, with mechanisms still unknown, leads to neuronal death. These molecular aggregates are responsible for "Lewy Body Dementia", a form of cognitive decline that affects Parkinson's patients with these bodies.
Finally, there is a complex group of aggressive and often early-onset neurological conditions that go by the name of "Parkinsonisms". These are highly disabling conditions, which present the typical symptoms of Parkinson's, but affect larger brain areas and have a different etiology. The term "Parkinsonism", therefore, indicates a set of symptoms, not a specific disease.
This panel analyzes the main genes related to Parkinson's disease and the conditions that can cause Parkinson's-like symptoms.
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