Parkinson's disease is the best known and most common synucleinopathy, and the most common neurodegenerative disease involving musculoskeletal disorders in humans. It is named after its discoverer, James Parkinson, a British physician and pharmacist. He himself referred to the disease as shaking palsy and gave it the name paralysis agitans. As early as 1817, he published his research under the title "An Essay on the Shaking Palsy". The disease manifests itself in a degeneration of neurons in the substantia nigra pars compacta (SN), a part of the brain that controls the motor system. The neurons in this brain structure have an inhibitory effect on other parts of the musculoskeletal system via the neurotransmitter dopamine. The dopamine deficiency triggered by the death of the cells manifests itself in four Cardinal symptoms::
- Tremor (muscle tremors)
- Rigor (muscle rigidity)
- Bradykinesis (slowed movements)
- Postural instability (instability of posture).
Symptoms appear only after much of the SN's dopaminergic neurons have already died. Parkinson's usually occurs spontaneously. However, there are also three known mutations in the synuclein gene (A30P, A53T, and E46K) that result in a familial form of PD with earlier onset of symptoms. The only definitive diagnosis for the disease is the detection of Lewy bodies, which consist of alpha-synuclein aggregates, in SN dopaminergic neurons post mortem. Currently, there are no known effective treatments for PD. All therapeutic approaches are limited to alleviating symptoms. However, this does not slow down the progression of the disease.
We are working on the analysis of alpha-synuclein aggregation processes and a diagnostic approach for PD.