After Alzheimer's, frontotemporal dementia is the second leading cause of cognitive impairment before age 65. An Italian study shows a new technique for 'reading' the genetic forms of the disease. Published in 'Alzheimer Research and Therapy', the work conducted by the Neurodegenerative Diseases Unit, Centro Dino Ferrari of the Irccs Policlinico State University of Milan, directed by Elio Scarpini, focuses on the use of visual morphometric scales in magnetic resonance and shows that this strategy allows to identify the different genetic mutations that cause frontotemporal dementia.
The disease is characterized by psycho-behavioral disorders such as disinhibition, changes in social behavior, aggression, and in about 20% of cases it depends on a genetic mutation. The newly published study was carried out in the context of an international multicenter project called Genfi (Genetic Frontotemporal Dementia Initiative), which involves Scarpini's unit with Professor Daniela Galimberti, as well as several centers in Europe and Canada. The aim is to study subjects with mutations in one of the 3 main genes (progranulin, Mapt and C9orf72), who have not yet developed the symptoms of the disease.
MRI scans conducted on 343 people as part of the project were analyzed using a protocol of 6 visual assessment scales that identify atrophy in key brain regions (orbitofrontal, anterior girdles, borders, anterior and medial temporal lobes and posterior areas cortical).
Using magnetic resonances and assigning a score to specific areas, the group coordinated by Giorgio Fumagalli, researcher at the Centro Dino Ferrari, was able to demonstrate a typical profile of brain atrophy for each mutation: asymmetric for progranulin, symmetrical mainly to the temporal lobes for Mapt and widespread for C9orf72. The researchers also identified, again thanks to resonance images, an enlargement of the cerebral sulci in the areas of the mesial temporal lobes in people with Mapt mutation, before they developed the symptoms of dementia. The results are a step forward in improving the chances of diagnosing the disease. The radiological data, the experts conclude, represents the only pre-clinical marker of these genetic cases of frontotemporal dementia. "The evaluation scales used, comments Giorgio Fumagalli, simple to use and reproducible, can therefore be useful tools in the clinical context for the discrimination of different mutations of frontotemporal dementia, and in the case of Mapt gene mutations they can also help to identify atrophies before of the onset.