Skin biopsy warns of Parkinson's disease — Harvard Gazette

A simple skin biopsy test has shown high accuracy in detecting abnormal skin morphology. alpha-synucleina pathological hallmark of Parkinson's disease, according to Harvard-affiliated neurologists. Beth Israel Deaconess Medical Center.

in paper The results of this groundbreaking study, published in the Journal of the American Medical Association and sponsored by the National Institutes of Health, will help doctors more accurately diagnose Parkinson's disease and a subgroup of neurodegenerative diseases known as Parkinson's disease. We have validated this cutaneous method as a useful, reliable and convenient tool. Synucleinopathies.

“Each year, nearly 200,000 people in the United States face a diagnosis of Parkinson's disease, Lewy body dementia, and related conditions,” said lead author, professor of neurology at Harvard Medical School and neurologist at BIDMC. said one Christopher Gibbons. “Due to the complexity of these diseases, patients very often experience delayed or misdiagnosed diagnoses. With a simple, minimally invasive skin biopsy test, this blinded, multicenter study shows that We have demonstrated how we can more objectively identify the underlying pathology and provide better diagnostic answers and patient care.”

Synucleinopathies, which affect an estimated 2.5 million people in the United States, include Parkinson's disease, dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF). Although the four progressive neurodegenerative diseases have different prognoses and do not respond to the same treatments, they share some overlapping clinical features, such as tremor and cognitive changes. Furthermore, they are all characterized by the presence of an abnormal protein present in nerve fibers in the skin called phosphorylated alpha-synuclein (P-SYN).

In the study, titled the “Synuclein-One Study,” Gibbons and colleagues from 30 academic and community-based neurology practices examined patients with a clinical diagnosis of one of four synucleinopathies based on clinical criteria. enrolled 428 people aged 40 to 99 years who were identified based on clinical criteria. were an expert panel or healthy control subjects with no history of neurodegenerative disease. Participants underwent three 3-mm skin punch biopsies from the neck, knee, and ankle.

“These are systemic diseases that profoundly affect the peripheral and central nervous systems,” said senior author Roy Freeman, director of the BIDMC Autonomic and Peripheral Neuropathy Center and professor of neurology at HMS. “We have known for many years about the presence of alpha-synuclein in cutaneous nerves, and we were excited by the accuracy of this diagnostic test.”

Among participants with clinically confirmed Parkinson's disease, 93% had a positive skin biopsy for P-SYN. DLB and MSA participants had 96% and 98% positive responses, respectively. His 100% of PAF participants were positive for abnormal proteins. Just over 3 percent of the control group tested positive for P-SYN. The authors suspect that this error rate suggests that some of the healthy controls are at risk for synucleinopathy.

“Parkinson's disease and a subgroup of progressive neurodegenerative diseases develop gradually, but alpha-synuclein is present in the skin even in the early stages,” Freeman points out.

The research team's findings build on previous research by Freeman and Gibbons. Together with immunohistochemist Ningshan Wang, a research scientist at BIDMC and assistant professor of neurology at HMS, they have been focused on discovering reliable biomarkers for synucleinopathy since 2009. The development of research on alpha-synuclein in the skin is part of this effort.License partnership with CND Life Sciencea neurodiagnostic company.

In 2023, BIDMC researchers have demonstrated They published in the journal Neurology that this technology can reliably distinguish between Parkinson's disease and MSA. This distinction is important for the appropriate management of diseases that appear clinically similar but have vastly different prognoses.

The authors hope that this research will play a role in accelerating the development of treatments for synucleinopathy.

“Enrolling the right patients in clinical trials for these complex diseases is paramount,” Freeman said. “Identifying relevant biomarkers in patients and tracking them during clinical trials is a key component of drug development in the field of neurodegeneration.”

This research was supported by the National Institutes of Health (grant NIH R44NS117214) and sponsored by CND Life Sciences.