Early detection and differential diagnosis of Parkinson's disease can be aided by a skin biopsy.

Parkinson's disease (PD) is currently diagnosed using clinical criteria that have been agreed upon. The presence of neuronal deposits of the biomarker phosphorylated alpha-synuclein (p-syn) in the brain and skin of patients with PD distinguishes them from individuals with symptoms of parkinsonism due to the accumulation of another protein, tau, according to a new study published in the Journal of Parkinson's Disease. This advancement could aid in the early detection and differentiation of Parkinson's disease among the numerous parkinsonism subtypes. Other synucleinopathies, as well as atypical parkinsonism, such as progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS), both of which are caused by the buildup of another protein, tau, share the core parkinsonian symptoms. Despite their clinical similarities, PSP is distinguished by 4-repeat tau deposits, which are found primarily in the basal ganglia, brainstem, and cerebellum, while CBS is a clinical syndrome characterised by a heterogeneous underlying neuropathology, which includes tauopathies as well as synucleinopathies.

"This study arose from the same endeavour. Our goal was to determine if we could tell the difference between PD and two potential mimics, PSP and CBS, and to see if we could use this method to help with clinical diagnosis "Dr. Giannoccaro went on to say more.

From May 2014 to April 2017, researchers recruited 26 people with Parkinson's disease, 26 people with PSP (18) or CBS (8), and 26 healthy people. To explore p-syn deposits in skin nerves, all participants had skin biopsy in three locations: the leg, the thigh, and the cervical area. They discovered that all of the PSP/CBS patients, with the exception of two, had no skin p-syn deposits, as did all of the healthy people. All PD patients, on the other hand, had p-syn deposition.

The discovery of p-syn skin deposits in two patients diagnosed with PSP and CBS, respectively, astonished the researchers. One hypothesis is that these two individuals were misdiagnosed; nonetheless, clinical and MRI evidence corroborated the diagnosis. Another intriguing idea is that some individuals have a mixed pathology, meaning they are suffering from various neurodegenerative diseases at the same time. Both patients had certain aberrant traits that were more typical of Parkinson's disease, which could indicate an atypical synucleinopathy presentation.

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Dr. Giannoccaro said, "To our knowledge, this is the largest study evaluating in vivo the peripheral deposition of misfolded alpha-synuclein in PD and PSP/CBS cases." "We demonstrated that the presence of p-syn deposits on the skin accurately distinguishes patients with Parkinson's disease from those with atypical parkinsonism." Because the treatment and prognosis of PD, PSP, and CBS are all different, early differentiation and correct in vivo diagnosis are critical for proper clinical management and patient care.

The researchers suggest that bigger samples of patients be used in future studies to corroborate the findings. Furthermore, it may be significant in the near future for patient recruitment in clinical studies of prospective disease-modifying medications.

Parkinson's disease (PD) is a chronic disease that affects movement, muscular function, and balance. It is the second most common age-related neurodegenerative condition, affecting approximately 3% of the population by the age of 65 and up to 5% of those over 85.