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000169169 037__ $$aDZNE-2023-00048
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000169169 1001_ $$0P:(DE-HGF)0$$aFinger, Elizabeth$$b0$$eCorresponding author
000169169 245__ $$aNeurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers
000169169 260__ $$aOxford$$bOxford Univ. Press$$c2023
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000169169 520__ $$a While 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 ageing. To test the hypothesis that genetic mutations causing frontotemporal dementia have neurodevelopmental consequences, we examined the youngest adults in the GENFI cohort of pre-symptomatic frontotemporal dementia mutation carriers who are between 19 and 30 years of age. Structural brain differences and improved performance on some cognitive tests were 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 26 years. The detection of such early differences supports potential advantageous neurodevelopmental consequences of some frontotemporal dementia-causing genetic mutations. These results have implications for the design of therapeutic interventions for frontotemporal dementia. Future studies at younger ages are needed to identify specific early pathophysiologic or compensatory processes that occur during the neurodevelopmental period.
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000169169 650_2 $$2MeSH$$aHumans
000169169 650_2 $$2MeSH$$aYoung Adult
000169169 650_2 $$2MeSH$$aAdult
000169169 650_2 $$2MeSH$$aFrontotemporal Dementia: genetics
000169169 650_2 $$2MeSH$$aNeurodegenerative Diseases
000169169 650_2 $$2MeSH$$aProgranulins: genetics
000169169 650_2 $$2MeSH$$aBrain
000169169 650_2 $$2MeSH$$aPick Disease of the Brain
000169169 650_2 $$2MeSH$$aMutation
000169169 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000169169 650_2 $$2MeSH$$atau Proteins: genetics
000169169 650_7 $$2NLM Chemicals$$aProgranulins
000169169 650_7 $$2Other$$aC9orf72
000169169 650_7 $$2Other$$aGRN
000169169 650_7 $$2Other$$aMAPT
000169169 650_7 $$2Other$$afrontotemporal dementia
000169169 650_7 $$2Other$$aneurodevelopment
000169169 650_7 $$2NLM Chemicals$$aC9orf72 Protein
000169169 650_7 $$2NLM Chemicals$$atau Proteins
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