Finger, Elizabeth;
Malik, Rubina;
Bocchetta, Martina;
Coleman, Kristy;
Graff, Caroline;
Borroni, Barbara;
Masellis, Mario;
... Genetic FTD Initiative GENFI; + view all
(2023)
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.
Brain
, 146
(5)
pp. 2120-2131.
10.1093/brain/awac446.
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Abstract
While frontotemporal dementia (frontotemporal dementia) has been considered a neurodegenerative disease that starts in mid-life or later, it is now clearly established that cortical and subcortical volume loss is observed more than a decade prior to symptom onset and progresses with aging. To test the hypothesis that genetic mutations causing frontotemporal dementia have neurodevelopmental consequences, we have examined the youngest adults in the GENFI cohort of pre-symptomatic frontotemporal dementia mutation carriers who are between the ages of 19 and 30y. Structural brain differences and improved performance on some cognitive tests was found for MAPT and GRN mutation carriers relative to familial non-carriers, while smaller volumes were observed in C9orf72 repeat expansion carriers at a mean age of 26y. The detection of such early differences supports potential advantageous neurodevelopmental consequences of some frontotemporal dementia causing genetic mutations. These results have implications for design of therapeutic interventions for frontotemporal dementia. Future studies at younger ages are needed to identify specific early pathophysiologic or compensatory processes in the neurodevelopmental period.
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