The findings show that a loss of cells in the retina is one of the earliest signs of frontotemporal dementia (FTD) in people with a genetic risk for the disorder - even before any changes appear in their behaviour.
The researchers from the University of Alabama at Birmingham, Gladstone Institutes and the University of California, San Francisco, studied a group of individuals who had a certain genetic mutation that is known to result in FTD.
They discovered that, before any cognitive signs of dementia were present, these individuals showed a significant thinning of the retina compared with people who did not have the gene mutation.
"Retinal degeneration was detectable in mutation carriers prior to the onset of cognitive symptoms, establishing retinal thinning as one of the earliest observable signs of familial FTD," Li Gan, from Gladstone said.
"This means that retinal thinning could be an easily measured outcome for clinical trials," said Gan.
Although it is located in the eye, the retina is made up of neurons with direct connections to the brain. This means that studying the retina is one of the easiest and most accessible ways to examine and track changes in neurons.
"We have a more complete understanding about how the retina functions as opposed to the operations of the complex brain," said Kraft.
"That makes it much easier to use the retina as a tool for better understanding FTD," said Kraft.
The researchers also discovered new mechanisms by which cell death occurs in FTD. As with most complex neurological disorders, there are several changes in the brain that contribute to the development of FTD.
The finding was published in the Journal of Experimental Medicine.
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