'Game-changer' test spots signs of motor neurone disease before symptoms

Broadcaster Charlie Bird died aged 74 after a long battle with motor neurone disease earlier this month. Picture: Brian Lawless/PA

A test that spots signs of motor neurone disease before symptoms appear has been hailed as a "game-changer" by scientists developing it.

The tool, known as TDP-43 aptamer, is able to detect damaged cell proteins in brain tissue samples.

Researchers said the proteins are indicators of motor neurone disease (MND) that can be spotted before cells begin to malfunction and symptoms start to appear.

They said that detecting the condition at its earliest stages opened the door for more effective treatments. The Irish Motor Neurone Disease Association welcomed the “encouraging” news.

Holly Spence, of the University of Aberdeen, said: “Our findings have implications for early diagnostics and intervention prior to symptom onset in MND.

“With better ability to detect disease, we might be able to diagnose people with MND earlier, when therapeutic drugs might be much more effective.”

There is no cure for MND, but treatments can help reduce its impact on a person’s daily life. It is caused by a build-up of certain proteins in the brain that clump together, causing the cells to stop working. Symptoms include impaired movement, thinking and breathing, which worsens over time.

The "aptamer" lab test works by identifying abnormal protein clumps in a brain tissue sample, taken from a patient during biopsy.

The researchers said their test could pick up indicators of MND earlier and with more sensitivity than methods currently used.

Jenna Gregory, of the University of Aberdeen, said: “This tool targets the disease protein and allows us to see where toxic clumps are building up in the body. It can do this for much lower amounts of disease proteins, and with greater accuracy than ever before.

This could be a game-changer for MND research, diagnostics and treatment.

The research was funded by Target ALS and is published in the journal Acta Neuropathologica.

The Irish Motor Neurone Disease Association welcomed the news. “Any new research and breakthroughs in the diagnosis and treatment of MND is encouraging. This test, developed by experts from the University of Aberdeen in Scotland is a welcome step, as it means treatment could begin sooner, but it could also open up access to clinical trials for more people with MND with an earlier diagnosis.

“From our experience working with people with MND and their families in Ireland, we know firsthand how distressing a diagnosis is, and the length of time it can take to be diagnosed adds to the worry. Any new test that might help speed that up in future is a positive development.”

Jessica Lee, director of research at the My Name’5 Doddie Foundation (set up by the late Scottish rugby player Doddie Weir) said: “MND is a devastating condition for which there are currently no effective treatments and long delays in diagnosis.

“Due to advancements in research, many potential treatments are currently being explored in the lab and in clinical trials. However, we now need robust biomarkers of disease to support the evaluation of these treatments and to speed up diagnosis, so that treatments can be started earlier in disease progression. This exciting new technology holds promise to do just that.”

Mr Weir was “horrified at the lack of hope” given to people diagnosed with MND, his friend said.