A simple blood test can tell which patients will develop devastating motor neurone disease a decade before symptoms appear, a groundbreaking study has revealed. 

Neurology experts at the Johns Hopkins University School of Medicine believe they can spot the neurodegenerative disorder by looking at specific proteins in blood samples. 

Professor Alexander Pantelyat, study investigator, said: ‘We had always assumed that ALS was a rapid disease that starts 12 to 18 months before symptom onset.

‘But when we look at our findings, we see this has been a process that goes on for a decade or so before the patient ever steps into the doctor’s office or clinic.’ 

The rare and incurable condition affects the brain and nerves, robbing sufferers of their ability to move, eat and eventually breathe. 

Experts believe the findings could help identify new ways of treating the disease, before amyotrophic lateral sclerosis (ALS)—the most common form of motor neurone disease (MND)—becomes debilitating. 

 ‘We see the light at the end of the tunnel here, and that target is an approved and available blood test for ALS,’ Prof Pantelyat said. 

‘With a test that allows for earlier detection of ALS, we have opportunities to enroll people in observational studies, and by extension, offer promising disease-modifying—and hopefully disease stopping—medications.’ 

A simple blood test can tell which patients will develop motor neurone disease over a decade before symptoms appear, according to a groundbreaking study

A simple blood test can tell which patients will develop motor neurone disease over a decade before symptoms appear, according to a groundbreaking study 

Around 5,000 adults in the UK have MND and there is a one in 300 risk of developing the condition over the course of a lifetime. 

Life expectancy for about half of those with the condition is between just two and five years from the onset of symptoms. But these can deteriorate rapidly. 

Muscle twitches and a weak grip are among the early signs of the condition, along with weakness in the leg or ankle, slurred speech and weight loss. 

There is currently no cure and experts say a reliable method for diagnosing the devastating condition has remained elusive. 

Those diagnosed with MND typically live for two to four years after symptoms begin, but the researcher’s findings suggest the disease may start over a decade before.  

In the study, published in the journal Nature Medicine, researchers collected blood samples from 281 patients with Amyotrophic lateral sclerosis (ALS)—the most common form of motor neurone disease—and 258 participants from a healthy control population from the University of Turin and the National Institutes of Health. 

The researchers then identified a total of 2,886 proteins specific to ALS—which is called Lou’ Gehrig’s disease in the US—from the plasma samples. 

Using machine learning, the neurologists then cross referenced the proteins with blood samples taken from 137 patients with other neurologic diseases. 

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ALS or 'locked-in' syndrome can lead to paralysis and eventually death. The acclaimed scientist Stephen Hawking famously suffered from it

ALS or ‘locked-in’ syndrome can lead to paralysis and eventually death. The acclaimed scientist Stephen Hawking famously suffered from it

The model was also tested on 48 further samples from ALS patients, 42 healthy participants and 33 patients with other neurological disorders. 

‘It’s crucial for patients and their families to be able to discern between ALS and other conditions for diagnostic clarity, prognostic understanding and eligibility to enroll into the appropriate clinical trials,’ Prof Pantelyat explained. 

Overall, 33 proteins were identified as a ‘distinct molecular signature’ for ALS which differentiated the degenerative disease from healthy individuals and other neurological disease such as dementia and Parkinson’s disease. 

Some of the proteins identified in the panel, such as the neurofilament light protein have already been linked with the disease, but the current study was able to identify 16 additional proteins.  

The researchers found that when this model was combined with other clinical information about the patient, it was around 98 per cent effective when distinguishing ALS patients from healthy participants and those with other neurological disorders. 

For the 110 patients and healthy participants whose plasma samples were taken before symptom onset, the risk score generated by the model increased as time went on and the patients got closer to the normal symptom onset time frame. 

The researchers were able to rule out ageing as a confounding factor as the association was not seen among healthy participants or those with other disorders. 

They concluded that the protein panel could one serve as a biomarker for ALS similar to biomarkers seen in the early  detection of Alzheimer’s years before symptoms appear. 

This rare and incurable condition affects the brain and nerves, robbing sufferers of their ability to move, to eat and eventually breathe. Pictured, Rob Burrow in 2013

This rare and incurable condition affects the brain and nerves, robbing sufferers of their ability to move, to eat and eventually breathe. Pictured, Rob Burrow in 2013

The researchers have since made their findings publicly available to encourage and advance biomarkers researchers. 

Prof Pantelyat concluded: ‘Fifteen years of cross-institutional collaboration went into this work. 

‘Large scale partnerships are the lifeblood of research. They’re what will lead to effective diagnostics and ultimately effective treatments for devastating diseases like ALS.’  

MND was famously suffered by physicist Stephen Hawking and last year devastatingly claimed the life of Leeds Rhinos star Rob Burrow at just 41-years old after a four-and-a-half-year battle with the disease. 

WHAT IS MOTOR NEURONE DISEASE?

Motor neurone disease is a rare condition that mainly affects people in their 60s and 70s, but it can affect adults of all ages.

It’s caused by a problem with cells in the brain and nerves called motor neurones. These cells gradually stop working over time. It’s not known why this happens.

Having a close relative with motor neurone disease, or a related condition called frontotemporal dementia, can sometimes mean you’re more likely to get it. But it doesn’t run in families in most cases.

Early symptoms can include weakness in your ankle or leg, like finding it hard to walk upstairs; slurred speech, finding it hard to swallow, a weak grip, and gradual weight loss.

If you have these symptoms, you should see a GP. They will consider other possible conditions and can refer you to a specialist called a neurologist if necessary.

If a close relative has motor neurone disease or frontotemporal dementia and you’re worried you may be at risk of it, they may refer you to a genetic counsellor to talk about your risk and any tests you can have

Source: NHS UKÂ