A groundbreaking international study led by researchers at Karolinska Institutet has shown that it is possible to detect early signs of frontotemporal dementia (FTD) using advanced brain imaging.
This could lead to better diagnosis and earlier treatment for individuals at risk of this serious disease. The findings were published in the journal Molecular Psychiatry.
Frontotemporal dementia is a brain disease that often affects people in middle age and is one of the leading causes of early-onset dementia, typically appearing before the age of 65.
It’s especially difficult to diagnose in its early stages because the symptoms often look like psychiatric issues—such as changes in behavior—or mimic other brain conditions like Alzheimer’s or Parkinson’s disease.
In about one-third of cases, FTD is hereditary, passed down through families. This makes families with known genetic mutations a key group for research. In this new study, researchers examined more than 700 individuals from such families, comparing people who carry mutations linked to FTD with those who do not.
The team used a new kind of MRI scan that looks at how water molecules move within the brain’s gray matter. This technique can detect very small changes in brain tissue.
When water molecules spread more freely, it often means that the tissue is damaged. The major breakthrough is that this method can reveal brain damage even before the brain begins to shrink—a process called brain atrophy—or before any memory or behavior issues appear.
The study found that this new imaging method is more sensitive than traditional brain scans that measure the thickness of the brain’s cortex. For people with a mutation in the C9orf72 gene—one of the genes linked to FTD—researchers could spot early brain changes even before symptoms began.
People with mutations in the MAPT gene showed changes at early stages of the disease, while those with GRN gene mutations showed signs only in later stages.
“These results show that brain changes can be detected before any visible shrinkage of the brain,” said Elena Rodriguez-Vieitez, one of the study’s lead researchers. “These early microstructural changes are closely connected to how the disease progresses.”
The research team also followed the participants over time and found that people with more water molecule spread in their brain tissue at the start of the study tended to develop symptoms faster. This was true for all three genetic mutations studied.
According to Professor Caroline Graff, another key author of the study, the results suggest that this new brain scan method could be a powerful tool for identifying people at risk of FTD and for monitoring how the disease progresses. This could be especially useful in clinical trials for testing new treatments.
In the future, this kind of brain scan could help doctors diagnose frontotemporal dementia earlier and track how it develops, potentially giving patients better options for care and treatment before serious symptoms begin.
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The study is published in Molecular Psychiatry.
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