An abnormal protein in nerve cells that is a hallmark of Parkinson’s disease and other degenerative nervous system disorders is detectable with a skin biopsy, neurologists reported in JAMA.
They hope to eventually use skin biopsies to help diagnose patients and support clinical trials of drugs that target this protein, known as alpha-synuclein.
Conditions like Parkinson’s, known as synucleinopathies, are diagnosed based mainly on symptoms. Experimental blood tests are in development, but currently patients are often misdiagnosed or experience delays in diagnosis, study leader Dr. Christopher Gibbons of Beth Israel Deaconess Medical Center in Boston said in a statement.
“With a simple, minimally-invasive skin biopsy test… we can more objectively identify the underlying pathology of synucleinopathies and offer better diagnostic answers and care for patients,” Gibbons said.
His team performed skin biopsies on 277 patients with confirmed synucleinopathies and 151 healthy volunteers. Biopsies showed alpha-synuclein in 93% of patients with Parkinson’s disease, 96% of those with Lewy body dementia, 98% with multiple system atrophy, and in all patients diagnosed with pure autonomic failure, they reported.
Only 3% of the healthy volunteers had this protein in nerve cells, and the researchers said they believe these may have been people at high risk for eventually developing one of these disorders.
The next step will be to validate the findings in patients not yet formally diagnosed with one of these conditions, the researchers said.
Read more about diagnosing Parkinson’s disease on Reuters.com