Harvard Neurologists Find Skin Biopsies Can Detect Parkinson’s Disease in Recent Study

A team of neurologists from Harvard-affiliated Beth Israel Deaconess Medical Center found that skin biopsies can help predict early signs of four progressive neurodegenerative diseases — including Parkinson’s disease — in a study published on March 20.

The researchers, led by Harvard Medical School Neurology professors Christopher H. Gibbons and Roy L. Freeman, found that doctors can take skin samples to detect an abnormal protein called alpha-synuclein, which can predict a set of degenerative diseases known as synucleinopathies up to 20 years before symptoms show.

Synucleinopathies include Parkinson’s disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure, all of which are systemic disorders affecting the whole body.

In an interview, Gibbons — who has worked with Freeman on this issue for more than a decade — said skin biopsies provide a minimally invasive way to test for the diseases, which develop gradually and cannot be detected through brain imaging.

“We suspected there might be involvement of the nerves in the skin,” Gibbons said. “So we started looking at skin biopsies as a way to get a window into this part of the nervous system.”

Though the biopsy is not yet able to determine whether a patient has either Parkinson’s or another neurological disorder, it can identify if an individual has one of these four synucleinopathies.

For the study, the team collected sample skin biopsies from individuals with synucleinopathies across 30 test sites nationwide, as well as from individuals who were a part of the control group.

The study found that the skin biopsies detected alpha-synuclein among 93 percent of Parkinson’s patients, 96 percent of patients with dementia with Lewy bodies, and 98 percent of multiple system atrophy patients.

Freeman said this research allows physicians to determine if patients have early indicators of neurodegenerative diseases well before they begin to exhibit symptoms.

“There seems to be evidence of their manifestations maybe even 20 years before the motor features of Parkinson’s develop,” Freeman said in an interview.

Despite the newfound potential to discover whether patients might have early manifestations of a major neurological disorder in advance, Freeman said that whether a patient wants to test for these early indicators is a “very personal decision.”

“Do they want to know, even though we can’t precisely predict the risk,” Freeman said, “if they are going to develop Parkinson’s disease, when they will get it?” Freeman said.

Freeman said he hopes to apply this new method of conducting skin biopsies to other neurological diseases and help develop treatments.

“Within neurology, we are looking at other diseases caused by other proteins and seeing whether the skin can provide a similar window into what is happening in the brain,” Freeman said. “That research is ongoing.”

“I think this work lays the foundation for conducting more effective clinical trials to treat neurodegenerative disease and hopefully will accelerate the appearance of drugs to treat these really devastating diseases much sooner,” he added.