Tag: frontotemporal dementia

New Brain Imaging Technique Can Detect Early Frontotemporal Dementia

Photo by Anna Shvets

A new international study led by researchers at Karolinska Institutet demonstrates that it is possible to detect subtle changes in the brain and identify early signs of hereditary frontotemporal dementia using advanced brain imaging techniques. The study has recently been published in Molecular Psychiatry.

Frontotemporal dementia, or FTD, is a neurodegenerative disease that often affects people in middle age and is a common cause of dementia before the age of 65. The disease is particularly difficult to diagnose in its early stages, as the earliest symptoms are behavioural changes and may resemble primary psychiatric disease and symptoms later on can resemble conditions such as Alzheimer’s disease and Parkinson’s disease. In about a third of cases, frontotemporal dementia is hereditary, making families with known mutations an important resource for research.

New type of MRI technique

In the current study, researchers from Karolinska Institutet, together with an international research network, examined the brain’s microstructure in over 700 individuals – both carriers of FTD mutations and control subjects. The researchers used a new type of MRI technique that measures how water molecules spread within the grey matter of the brain, where greater diffusion indicates microstructural damage to brain tissue. In this way, the technique can reveal early damage in the cerebral cortex before the brain begins to shrink, known as brain atrophy, or cognitive problems arise.

The results revealed that the new method is more sensitive than the established imaging technique that measures the thickness of the cerebral cortex. Among individuals with a mutation in the C9orf72 gene, the researchers could detect changes in the brain even before any clinical symptoms appeared. For mutations in the MAPT gene, changes were observed at mild symptom stages, whereas for carriers of GRN mutations, alterations emerged only at more advanced stages.

Identifying individuals at risk

“Our findings show that changes in the brain’s microstructure can be detected before visible brain atrophy, and these changes are closely linked to how the disease develops,” explains corresponding author Elena Rodriguez-Vieitez, researcher at the Department of Neurobiology, Care Sciences and Society, Karolinska Institutet.

“This could be valuable for identifying individuals at risk and for evaluating new therapies in clinical trials.”

The researchers also followed the participants over time and showed that a greater spread of water molecules in brain tissue at the start of the study was linked to a faster decline in behaviour and cognitive ability. This was true for all three mutation types.

“Our results suggest that measurements of the brain’s microstructure could become an important tool for identifying individuals at risk of frontotemporal dementia and for monitoring disease progression in clinical trials,” says Caroline Graff, professor at the same department and last author of the study.

Source: Karolinska Institutet

Protein Clues in the Hunt for the Cause of Frontotemporal Dementia

Photo by Bill Oxford on Unsplash

Dementia usually affects older people, so when it occurs in middle age, it can be hard to recognise. The most common form is frontotemporal dementia (FTD), which is often mistaken for depression, schizophrenia, or Parkinson’s disease before the correct diagnosis is reached.

Now, as part of an NIH-funded study, researchers at UC San Francisco have found some clues about how FTD develops that could lead to new diagnostics and get more patients into clinical trials. The findings appear in Nature Aging on May 16.

The team measured more than 4000 proteins found in spinal tap fluid from 116 FTD patients and compared them to those from 39 of their healthy relatives. All 116 patients had inherited forms of FTD, enabling researchers to study the disease in living people with confirmed diagnosis, something that isn’t possible in non-inherited FTD cases, which can only be confirmed after death.

The composition of the proteins that changed in FTD suggest that these patients have problems with RNA regulation along with defects that affect connections in their brains. These proteins, researchers think, could be the first specific markers for FTD that emerge as the disease develops in middle age.

FTD is the most common form of dementia for people under 60. Because it occurs in younger people, it is often misdiagnosed as depression, early-onset Alzheimer’s, Parkinson’s, or a psychiatric condition. It takes an average of 3.6 years for patients to get an accurate diagnosis. There is no cure, and there are no treatments to slow or stop disease progression. It is distinct from Alzheimer’s in 3 major ways:

  • FTD features a gradual decline in behavior, language, or movement, but memory is intact.
  • It usually strikes younger people, between 45 and 65 years of age, and is less likely to strike after 65.
  • It’s less common, affecting 60 000 people in the U.S. (Alzheimer’s affects 6.7 million Americans).

“FTD affects people in the prime of their lives, stripping them of their independence,” said Rowan Saloner, PhD, professor in the UCSF Memory and Aging Center and corresponding author of the paper. “But there’s no definitive way to diagnose it in living patients, unlike other dementias like Alzheimer’s disease.”

“If we’re able to identify FTD early on, perhaps using some of the proteins we’ve identified, we can direct patients to the right resources, get them into the right therapeutic trials, and, ultimately, we hope, provide them with precision treatments.”

Source: University of California – San Francisco