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VIDEO: Frontotemporal dementia – young scientist leads research for a cure

Updated: Sep 10, 2020

Auckland family with 50/50 chance of dementia in their 40s and 50s enables search for earlier detection & treatment

Watch the TVNZ news story about this study:

Imagine that you are diagnosed with dementia. You’re told it will progressively deprive you of your ability to think, your personality, and your independence. Now imagine the doctor says your condition could have been treated if it was diagnosed 10 years earlier, but the damage to your brain now is too extensive.

An Auckland researcher has just been granted $200,000 to further the quest to identify dementia years or decades before clinical diagnosis, with the hope that early intervention is possible.


“We’re trying to find a way to determine who is in the very early stages of dementia before they have any of these clinical symptoms,” Dr Brigid Ryan explains.


“Then potential treatments that come along, or that already exist, could be trialled in those people.

“Treatments have been tested on humans and failed. Possibly we’re just giving them too late in the disease. If we were able to give that treatment 10 or 20 years earlier, then maybe those treatments might actually be helpful.”

Dr Ryan has been awarded an Auckland Medical Research Foundation Postdoctoral Fellowship, and her team of 11 at the University of Auckland are the world’s first to have long-term access to an Auckland family that has a rare form of early-onset dementia that manifests as young as in their mid 50s.

Aware that dementia ran in the family and wanting to help future generations, when the matriarch passed away she donated her brain to the Centre for Brain Research.

Medical researchers identified that her frontotemporal dementia was caused by a genetic mutation traced back to Wales in 1300AD and is shared by 27 other families around the world. The prevalence of frontotemporal dementia is second only to early-onset Alzheimer’s in those with dementia aged 45-65.

Her children have a 50/50 chance of getting it. Four of her six siblings and her father had it. There are more than 25 children in the next generation, with another two generations below them. Who carries the genetic mutation is not divulged.

“We’re working with 24 people, aged between 25 and 59. By testing for the gene, we can identify people who are perfectly healthy today, that we know in 10, 20 or 30 years are definitely going to develop dementia,” Dr Ryan says.

“The family members who carry the gene that are in that older age group are probably quite close to developing the disease. These are the people in whom you can actually tell that they’re going to develop dementia much earlier than they develop clinical symptoms. We’re trying to look for potential tests that we could do which identify the really early stages of dementia.”

Dr Ryan’s work with this family is internationally unprecedented, as no other researchers in the world have had access to families who have the gene mutation, instead working with smaller groups of unrelated people.

The research requires the family to undergo annual tests at the university including neuropsychological assessments of their thinking abilities to look for any subtle changes. They test their sense of smell, as there is evidence it is affected early in other diseases, such as Alzheimer’s and Parkinson’s. Eye exams look for changes in the retina and blood tests are conducted to look for any markers that could lead to a diagnostic blood test that determines the risk of dementia. Findings may also be beneficial for researching Alzheimer’s.

With a grandmother who has dementia, Dr Ryan knows first-hand how difficult it is to see someone you love lose themselves to the condition, and is mindful it is much harder to see this happen earlier in life.

“It is all so much more affecting for these people, because they’re still bringing up children, and still have jobs. It has much more of a profound impact on them.

“Working with this family is really motivating. It’s hard to come to terms with knowing the people you are getting to know are eventually going to be struck by this disease. But having a personal connection makes it much easier to understand just how profoundly affecting dementia is.

“Whenever any of us spend time with the family we come back to work just buzzing to carry on. It’s really valuable having their input and knowing, together, we are working on something that could help inform earlier detection and treatment of dementia and ultimately enhance a person’s future quality of life.”

Dr Ryan tempers that by saying an analogy she heard is that current dementia treatment is like trying to stub out a match when the forest fire has already been lit. “We need to stop the fire from being lit in the first place.”

Being able to research this family gives the team the best chance yet of making a positive difference. However the longevity of the project relies solely on funding. Dr Ryan estimates half her time is spent in the lab, the other half sees her co-ordinating the team and applying for more research funding.

“Sometimes that’s just passed off as strange behaviour when you get a bit older,” Dr Ryan says. “But it quickly becomes apparent that it’s more serious than that.


“It’s really vital to have this support from the Auckland Medical Research Foundation. We really want to follow this family for as many years as we can as we are in the unique position of working with them long-term, seeing the ongoing changes that happen as the disease progresses and relating this back to more effective detection and treatment of dementia. “The Foundation is providing more than just funding, they are providing hope for the future.”


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