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Skin Biopsy Test Can Detect Abnormal Protein Found in People With Parkinson’s Disease

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A simple skin biopsy test that can be done at the doctor’s office was effective in detecting Parkinson’s disease with 93 percent accuracy, according to a new study published on March 20 in JAMA.

Although the special biopsy, called a Syn-One Test, has been shown to be effective in identifying different neurological disorders, this was the first to look at the subgroup of neurodegenerative conditions known collectively as synucleinopathies — including Parkinson’s disease, Lewy body dementia, multiple system atrophy, and pure autonomic failure — in one large, blinded study that included multiple centers around the United States.

“Too often patients experience delays in diagnosis or are misdiagnosed due to the complexity of these diseases,” says lead author Christopher Gibbons, MD, a neurologist at Beth Israel Deaconess Medical Center and a professor of neurology at Harvard Medical School in Boston. Being able to detect the abnormal protein that is seen in Parkinson’s disease and related conditions with very high accuracy will allow for better diagnostic answers and improve care for patients, says Dr. Gibbons.

More Than 1 in 4 People Are Given an Incorrect Diagnosis Before Being Correctly Diagnosed With Parkinson’s

Each year, an estimated 180,000 people in the United States are diagnosed with Parkinson’s disease, Lewy body dementia, and related disorders, according to the authors. Although Parkinson’s disease is the most well known of the synucleinopathies, Lewy body dementia is actually more common.

But because these conditions share some overlapping signs and symptoms, like tremors and cognitive changes, diagnosis can be challenging.

A 2020 survey conducted by Parkinson’s UK found that 1 in 4 people reported they were misdiagnosed with a different condition before receiving the correct Parkinson’s diagnosis.

Lewy body dementia can also be misdiagnosed because the cognitive symptoms (especially early in the disease course) can be similar to those of Alzheimer’s disease. Distinguishing between the two is important — some medications used for Alzheimer’s symptoms can cause serious side effects in people with Lewy body dementia.

Test Correctly Identified People With Neurodegenerative Diseases Between 93 and 100 Percent of Cases

Researchers from 30 academic and community-based neurology practices around the U.S. enrolled 428 people between ages 40 and 99: 151 healthy people without brain disease, and 277 people with a diagnosis of one of the four neurodegenerative diseases based on a physical exam and symptoms, and confirmed by an expert panel.

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