Shared from parkinson.org.
Currently, there is no single test to diagnose Parkinson’s disease (PD). Doctors rely on symptoms, which can mean a delay in diagnosis as early symptoms can be hard to distinguish from other common ailments. A new study in the Journal of the American Medical Association (JAMA) shows that a skin biopsy test can reliably detect Parkinson’s and other related diseases.
Parkinson’s, along with dementia with Lewy bodies (DLB), multiple system atrophy (MSA), and pure autonomic failure (PAF) are four diseases characterized by progressive neurodegeneration and disability. Together this group of diseases are called synucleinopathies because the nerve cells accumulate an abnormal version of the protein alpha-synuclein, which is also referred to as phosphorylated alpha-synuclein (P-SYN).
Previous research indicated that P-SYN could also be found in nerve cells present in the skin. The new JAMA study shows that small amounts of skin taken from the leg, thigh and back of the neck can be analyzed to detect P-SYN in people who have synucleinopathies.
A similar study published last year detected alpha-synuclein in a slightly different test referred to as a seed amplification assay (SAA) analysis . In that study, investigators collected spinal fluid from people with early Parkinson’s. A skin biopsy is considerably less invasive than a lumbar puncture (also known as a spinal tap), which is why this study has generated a lot of interest.