Australian researchers discover a simple blood test could diagnose dementia years earlier

It took about five years for Darren Tofts to be diagnosed with Alzheimer's.

It took about five years for Darren Tofts to be diagnosed with Alzheimer's. Photo: ABC News

A team of researchers at the Royal Melbourne Hospital have discovered a simple blood test could help thousands of Australians get an early diagnosis of dementia.

People generally consider dementia to be an older person’s disease.

But nearly 30,000 Australians who have the condition developed it before they were 65.

Because the first symptoms of dementia are often depression and anxiety, many people do not realise they have the disease. This is especially the case for younger patients.

“In many situations, the blood tests, the brain scans, even the memory testing can be close to normal,” Professor Dennis Velakoulis, from the Royal Melbourne Hospital, told 7.30.

“There are many situations that general practitioners and specialists face where it’s unclear if someone has a mental health or psychiatric disorder, like depression.”

Professor Velakoulis hopes the research his team is doing will one day help patients get answers earlier.

“The general feeling when psychiatrists hear about this research is one of expectation and hope,” he said.

The test will work by measuring the level of neurofilament light in the blood.

“Neurofilament light, or NFL, is a protein that lives in brain cells. It helps to maintain the structure of brain cells. And when a brain cell is damaged, it’s released,” he said.

Professor Dennis Velakoulis hopes the research will help patients get answers earlier. Photo: ABC News

“When we see it elevated in the spinal fluid or blood, it indicates that there’s been some brain injury and the brain cells have died.”

Crucially, neurofilament light is not present in samples from patients with mental illness, meaning this test could differentiate between the two conditions.

This is the first time Australian researchers have confirmed the link.

“People with psychiatric illnesses, or people who are healthy, have normal levels of NFL, because there’s no brain cells dying. But in many neurological disorders, particularly in dementia, there are brain cells that are dying and releasing NFL.”

At the moment, neurofilament light levels are commonly measured in samples of spinal fluid. But as the technology improves, it should be possible to just test the blood instead.

“In the past, we were measuring NFL only in cerebrospinal fluid, because the levels there were higher. Now with new technology, and new machines that can measure very, very low levels of proteins, we are able to look for it in the blood.”

The team hopes that following more research, the technology will be developed and made available to GPs across the country.

“If the test is confirmed to perform in the same way that it did in our earlier study, then we would be hoping that this blood test would be widely available to general practitioners and other specialists.”

‘The diagnosis has been a blessing for us’

Darren Tofts, pictured with wife Lisa Gye, was only 57 when he was diagnosed with Alzheimer’s. Photo: ABC News

It was nearly eight years ago when Lisa Gye noticed something was not quite right with her husband, Darren Tofts.

“I just suspected that it was anxiety,” she said.

“And so I spent a lot of time trying to get him to see a psychologist. Because I thought a lot of the time when people are anxious, they become forgetful and they become a bit disorganised.”

For about 30 years, Mr Tofts was a professor of media and communications at Swinburne University.

At first, he suspected his stressful job was to blame for his anxiety. But after he retired, his condition worsened.

“At the time we didn’t know what was going on. Until we realised that something was going on ‘up here’,” he said.

It took around five years for Mr Tofts to be diagnosed with Alzheimer’s. He was only 57 at the time.

“Now, every day counts,” says Lisa Gye. Photo: ABC News

“When you’re not quite sure what’s going on, it can be quite frightening. And then when you do find out and know, well the fear perhaps goes away a bit,” Mr Tofts said.

Ms Gye believes any test that could help deliver an earlier diagnosis is invaluable for people with dementia and their families.

“Alzheimer’s is not just something that affects old people,” she said.

“Our quality of life has improved, it hasn’t gotten worse. It was bad before, because we didn’t know what was going on.”

Mr Tofts and Ms Gye have chosen to be open about his diagnosis.

“There’s no one that doesn’t know. But equally, I know there are people out there with the same diagnosis who don’t tell anyone, because of the stigma,” Ms Gye said.

“And I think that is a tragedy for the people who have been diagnosed. Because you can live your best life if you have adequate support. You can’t get support if you’re not prepared to tell people what’s wrong.

“Now, every day counts. Every opportunity to spend time with our family, every chance to have fun with our friends, because those things can disappear in the blink of an eye. So if anything, the diagnosis has been a blessing for us, because it’s made us really value what we have, and live our best lives.”

Australian research could help other neurological conditions too

Gary Wishart and Kath Lok believe the blood test could have helped diagnose his cerebral vasculitis. Photo: ABC News

This new research may not just help people with dementia. It could also assist in diagnosing other rare neurological conditions where brain cell death occurs.

Melbourne man Gary Wishart was first diagnosed with anxiety in 2014.

But his wife, Kath Lok, who is a GP, suspected there was more going on.

“He started seeing a psychiatrist and a psychologist for over 10 sessions, [and he] started on antidepressants, which made no difference. He just fell asleep,” she said.

It took years and dozens of tests for Mr Wishart to get answers. During that time, he was treated by at least 30 different doctors and specialists.

Dr Lok concedes it would be incredibly difficult to deal with getting a diagnosis for her husband if she did not have a medical background.

“If I didn’t push on and seek more advice, he’d probably have died,” she said.

Specialists now believe Mr Wishart has cerebral vasculitis, an incredibly rare neurological condition. Following an intense treatment period at the Royal Melbourne Hospital, he has started to recover.

Gary Wishart says he feels “quite amazing” after his diagnosis and treatment. Photo: ABC News

“I feel quite amazing. I know that I’m not right, I’m not perfect. I’m not 100 per cent back to where I was,” Mr Wishart said.

His improvement means he can now help care for his two teenage sons again.

“I think for two or three years there, I probably didn’t have a husband. I was a carer. And when he started getting good treatment again, it took another two or three years for him to come back,” Dr Lok said.

“I’ve really enjoyed transitioning from the carer role into the wife role.”

A test measuring the levels of neurofilament light in Mr Wishart’s blood could have helped him get the specialist treatment he needed sooner.

“It took us a year at least for someone to believe that he had it,” Dr Lok said.

“You could get help. You could get support, get counselling. You could set things up. Yeah, it makes a huge difference.”

The National Dementia Helpline is 1800 100 500 for anyone who has a diagnosis or is concerned about themselves or others.

Watch this story on 7.30 on iview


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