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Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers
Finger, E. (Corresponding author) ; Malik, R. ; Bocchetta, M. ; Coleman, K. ; Graff, C. ; Borroni, B. ; Masellis, M. ; Laforce, R. ; Greaves, C. V. ; Russell, L. L. ; Convery, R. S. ; Bouzigues, A. ; Cash, D. M. ; Otto, M. ; Synofzik, M.DZNE* ; Rowe, J. B. ; Galimberti, D. ; Tiraboschi, P. ; Bartha, R. ; Shoesmith, C. ; Tartaglia, M. C. ; van Swieten, J. C. ; Seelaar, H. ; Jiskoo, L. C. ; Sorbi, S. ; Butler, C. R. ; Gerhard, A. ; Sanchez-Valle, R. ; de Mendonça, A. ; Moreno, F. ; Vandenberghe, R. ; Le Ber, I. ; Levin, J.DZNE* ; Pasquier, F. ; Santana, I. ; Rohrer, J. D. ; Ducharme, S. ; GENFI, G. F. I. (Collaboration Author) ; Esteve, A. S. (Contributor) ; Heller, C. (Contributor) ; Thomas, D. L. (Contributor) ; Todd, E. G. (Contributor) ; Nicholas, J. (Contributor) ; Benotmane, H. (Contributor) ; Zetterberg, H. (Contributor) ; Swift, I. J. (Contributor) ; Samra, K. (Contributor) ; Shafei, R. (Contributor) ; Timberlake, C. (Contributor) ; Cope, T. (Contributor) ; Rittman, T. (Contributor) ; Benussi, A. (Contributor) ; Premi, E. (Contributor) ; Gasparotti, R. (Contributor) ; Archetti, S. (Contributor) ; Gazzina, S. (Contributor) ; Cantoni, V. (Contributor) ; Arighi, A. (Contributor) ; Fenoglio, C. (Contributor) ; Scarpini, E. (Contributor) ; Fumagalli, G. (Contributor) ; Borracci, V. (Contributor) ; Rossi, G. (Contributor) ; Giaccone, G. (Contributor) ; Di Fede, G. (Contributor) ; Caroppo, P. (Contributor) ; Tiraboschi, P. (Contributor) ; Prioni, S. (Contributor) ; Redaelli, V. (Contributor) ; Tang-Wai, D. (Contributor) ; Rogaeva, E. (Contributor) ; Castelo-Branco, M. (Contributor) ; Freedman, M. (Contributor) ; Keren, R. (Contributor) ; Black, S. (Contributor) ; Mitchell, S. (Contributor) ; Rademakers, R. (Contributor) ; Poos, J. (Contributor) ; Papma, J. M. (Contributor) ; Giannini, L. (Contributor) ; van Minkelen, R. (Contributor) ; Pijnenburg, Y. (Contributor) ; Nacmias, B. (Contributor) ; Ferrari, C. (Contributor) ; Polito, C. (Contributor) ; Lombardi, G. (Contributor) ; Bessi, V. (Contributor) ; Veldsman, M. (Contributor) ; Andersson, C. (Contributor) ; Thonberg, H. (Contributor) ; Öijerstedt, L. (Contributor) ; Jelic, V. (Contributor) ; Thompson, P. (Contributor) ; Langheinrich, T. (Contributor) ; Lladó, A. (Contributor) ; Antonell, A. (Contributor) ; Olives, J. (Contributor) ; Balasa, M. (Contributor) ; Bargalló, N. (Contributor) ; Borrego-Ecija, S. (Contributor) ; Verdelho, A. (Contributor) ; Maruta, C. (Contributor) ; Ferreira, C. B. (Contributor) ; Miltenberger, G. (Contributor) ; do Couto, F. S. (Contributor) ; Gabilondo, A. (Contributor) ; Gorostidi, A. (Contributor) ; Villanua, J. (Contributor) ; Cañada, M. (Contributor) ; Tainta, M. (Contributor) ; Zulaica, M. (Contributor) ; Barandiaran, M. (Contributor) ; Alves, P. (Contributor) ; Bender, B. (Contributor)Extern* ; Wilke, C. (Contributor)Extern* ; Graf, L. (Contributor)Extern* ; Vogels, A. (Contributor) ; Vandenbulcke, M. (Contributor) ; Van Damme, P. (Contributor) ; Bruffaerts, R. (Contributor) ; Poesen, K. (Contributor) ; Rosa-Neto, P. (Contributor) ; Gauthier, S. (Contributor) ; Camuzat, A. (Contributor) ; Brice, A. (Contributor) ; Bertrand, A. (Contributor) ; Funkiewiez, A. (Contributor) ; Rinaldi, D. (Contributor) ; Saracino, D. (Contributor) ; Colliot, O. (Contributor) ; Sayah, S. (Contributor) ; Prix, C. (Contributor)Extern* ; Wlasich, E. (Contributor) ; Wagemann, O. (Contributor)Extern* ; Loosli, S. (Contributor) ; Schönecker, S. (Contributor) ; Hoegen, T. (Contributor) ; Lombardi, J. (Contributor) ; Anderl-Straub, S. (Contributor) ; Rollin, A. (Contributor) ; Kuchcinski, G. (Contributor) ; Bertoux, M. (Contributor) ; Lebouvier, T. (Contributor) ; Deramecourt, V. (Contributor) ; Santiago, B. (Contributor) ; Duro, D. (Contributor) ; Leitão, M. J. (Contributor) ; Almeida, M. R. (Contributor) ; Tábuas-Pereira, M. (Contributor) ; Afonso, S. (Contributor)
2023
Oxford Univ. Press
Oxford
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Please use a persistent id in citations: doi:10.1093/brain/awac446
Abstract: 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.
Keyword(s): Humans (MeSH) ; Young Adult (MeSH) ; Adult (MeSH) ; Frontotemporal Dementia: genetics (MeSH) ; Neurodegenerative Diseases (MeSH) ; Progranulins: genetics (MeSH) ; Brain (MeSH) ; Pick Disease of the Brain (MeSH) ; Mutation (MeSH) ; C9orf72 Protein: genetics (MeSH) ; tau Proteins: genetics (MeSH) ; Progranulins ; C9orf72 ; GRN ; MAPT ; frontotemporal dementia ; neurodevelopment ; C9orf72 Protein ; tau Proteins
Contributing Institute(s):
- Parkinson Genetics (AG Gasser 1)
- Clinical Dementia Research München Levin (Clinical Dementia Research München ; AG Levin)
Research Program(s):
- 353 - Clinical and Health Care Research (POF4-353) (POF4-353)
Appears in the scientific report
2023
Database coverage: ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 10 ; JCR ; Nationallizenz
; PubMed Central ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection
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