Study unveils ‘breakthrough biomarker’ for Parkinson’s disease

An international group of researchers have discovered a new tool they say can reveal a key pathology of Parkinson’s disease.

The identification of the ‘breakthrough biomarker’ opens a new chapter for research, according to The Michael J. Fox Foundation (MJFF), which led the coalition of scientists and its landmark Parkinson’s Progression Markers Initiative (PPMI) clinical study.

Parkinson’s disease is the fastest growing neurological condition worldwide, with nearly 90,000 people diagnosed with the disease each year in the US alone, according to the Parkinson's Foundation.

The disease is notoriously difficult to diagnose as it relies primarily on the appearance of motor symptoms such as tremors, stiffness and slowness, but these symptoms often appear several years after disease onset.

In a paper published in the journal Lancet Neurology, the team detailed how the α-synuclein seeding amplification assay can confirm the presence of the alpha-synuclein protein – known as the ‘Parkinson’s protein’ – not only in patients diagnosed with the disease, but also in individuals at a high risk of developing it.

Normally found in the nervous system, alpha-synuclein can start to misfold and clump, damaging neurons and causing Parkinson’s disease to develop. It has previously been possible to confirm the presence of these clumps only through postmortem analysis.

After being tested in small, independent studies, the assay was validated in more than 1,100 samples of spinal fluid contributed by PPMI participants since 2010, and confirmed the presence of abnormal alpha-synuclein in 93% of people with Parkinson’s.

“We've never previously been able to see in a living person whether they have this alpha-synuclein biological change happening in their body,” explained Todd Sherer, chief mission officer, MJFF.

As of now, the protein's presence can only be detected via a spinal tap, but the researchers hope to develop simpler ways, such as a skin biopsy or a nasal swab.

Commenting on the findings, Michael J Fox, said: “I’m moved, humbled and blown away by this breakthrough, which is already transforming research and care, with enormous opportunity to grow from here.

“I’m so grateful for the support of patients, families and researchers who are in it with us as we continue to kick down doors on the path to eradicating Parkinson’s once and for all.”