• Posted March 21, 2024

Skin Biopsy Might Help Diagnose Parkinson's or Other Brain Disorders

Folks can learn their risk for Parkinson's disease and other related brain disorders through a simple skin biopsy, a new study says.

Skin tests can detect an abnormal form of alpha-synuclein, a protein that is the hallmark of Parkinson's disease and similar degenerative brain illnesses, researchers say.

This simple test could be a reliable and convenient tool to help doctors accurately diagnose patients at risk for these brain diseases linked to abnormal alpha-synuclein, researchers conclude in the Journal of the American Medical Association.

"Too often patients experience delays in diagnosis or are misdiagnosed due to the complexity of these diseases,"lead researcher Dr. Christopher Gibbons, a neurologist at Beth Israel Deaconess Medical Center in Boston, said in a news release.

Diseases related to alpha-synuclein abnormalities include Parkinson's, dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF), researchers said in background notes.

These diseases"referred to as synucleinopathies"affect an estimated 2.5 million people in the United States.

For the study, researchers recruited 428 people who had been diagnosed with one of the synucleinopathies. Each person had three 3-millimeter skin biopsies taken from their neck, knee and ankle.

Researchers found abnormal alpha-synuclein in 93% of people with Parkinson's; 96% of people with dementia with Lewy bodies; and 98% of people with multiple system atrophy, results show. All patients with PAF had the abnormal protein in their skin samples.

By comparison, only about 3% of a group of healthy people tested positive for abnormal alpha-synuclein, researchers said.

"While we have been aware of the presence of alpha-synuclein in (skin) nerves for many years, we were thrilled with the accuracy of this diagnostic test,"senior researcher Dr. Roy Freeman, director of the Center for Autonomic and Peripheral Nerve Disorders at Beth Israel Deaconess Medical Center, said in a news release.

"Parkinson's disease and its subgroup of progressive neurodegenerative diseases show gradual progression, but alpha-synuclein is present in the skin even at the earliest stages,"Freeman added.

In addition to catching these brain diseases earlier, the skin test also could accelerate the development of effective drugs to treat them, researchers said.

"Enrolling the right patients in clinical trials for these complex diseases is of utmost importance,"Freeman said. "Identifying the relevant biomarker in a patient and tracking it over the course of a clinical trial is an essential component of drug development in the neurodegeneration field."

More information

The Mayo Clinic has more about the synucleinopathies.

SOURCE: Beth Israel Deaconess Medical Center, news release, March 19, 2024