Skin Biopsy Test Could Lead to Early Diagnosis of Parkinson’s Disease With 93% Accuracy Rate

Parkinson's disease (PD) is the second most common neurodegenerative disease after Alzheimer's. In the US alone, almost one million people are living with this brain condition, with nearly 90,000 people diagnosed each year.

What is Parkinson's Disease?

Parkinson's disease refers to a condition that involves the deterioration of the brain, causing more severe symptoms over time. It is known for affecting balance, muscle control, and movement, although it can also have an impact on a person's thinking ability, senses, mental health, and more.

The risk of developing Parkinson's disease increases as a person gets older, with the average age starting at 60 years old. Although this condition is age-related, it can also happen to adults as young as 20 years old. It is also slightly more common in men than in women.

There are several risk factors for Parkinson's disease. Like exposure to pesticides. For now, genetic factors are the only confirmed causes of this disorder. Cases of Parkinson's disease that are not genetic are classified as "idiopathic", which means that experts do not know exactly why it happens.

There is currently no definitive diagnostic test for Parkinson's disease. In most cases, patients experience delays in diagnosis or are misdiagnosed because of the complexity of this disease. Symptoms of PD also overlap with those from the diverse group of neurodegenerative disorders.

Detecting PD With Skin Test

On March 20, CND Life Sciences announced a pivotal peer-reviewed publication entitled "Skin Biopsy Detection of Phosphorylated α-Synuclein in Patients With Synucleinopathies". This cross-sectional study focuses on the clinical diagnosis of dementia with Lewy bodies (DLB), pure autonomic failure (PAF), Parkinson's disease (PD) and multiple system atrophy (MSA), collectively known as synucleinopathies.

This blinded study, supported by the National Institutes of Health (NIH), involves 30 sites and 428 patients. Its goal is to look for an abnormal protein - phosphorylated alpha-synuclein (P-SYN) - which is associated with some degenerative brain disorders. It also aims to define the positivity rate of skin biopsies to detect P-SYN deposition in confirmed cases of PAF, DLB, MSA, and PD.

The results of the study revealed that 93% of those with Parkinson's disease had a positive skin biopsy for P-SYN when compared with the control group. Similarly, the proportion of patients with P-SYN was 96% in those with DLB, 98% in those with MSA, and 100% in those with PAF. Meanwhile, the proportion of healthy subjects with P-SYN was only 3.3%.

The findings demonstrate the opportunity to utilize alpha-synuclein detection in cutaneous nerves as a convenient and reliable diagnostic tool for clinical practice. It can also serve as a quantifiable biomarker for evaluating disease severity and progression. According to lead author Christopher Gibbons, the accessibility to accurate testing modalities which pinpoint the pathologies of these diseases has been a serious challenge for both clinical practice and clinical trials. This is why the researchers are pleased to observe the strong positivity and specificity results of using skin as a reliable diagnostic method.

Researchers are hopeful that their findings have the potential to unlock a new era in diagnostic testing. It can also address urgent unmet needs by reducing misdiagnoses while enhancing efforts for clinical drug development.