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@ARTICLE{Planche:281877,
author = {Planche, Vincent and Mansencal, Boris and Fonov, Vladimir
and Manjon, José V and Tourdias, Thomas and Bouzigues,
Arabella and Russell, Lucy L and Foster, Phoebe H and
Ferry-Bolder, Eve and van Swieten, John C and Jiskoot, Lize
C and Seelaar, Harro and Sanchez-Valle, Raquel and Laforce,
Robert and Graff, Caroline and Galimberti, Daniela and
Vandenberghe, Rik and de Mendonça, Alexandre and
Tiraboschi, Pietro and Santana, Isabel and Gerhard,
Alexander and Levin, Johannes and Sorbi, Sandro and Otto,
Markus and Bertoux, Maxime and Lebouvier, Thibaud and
Butler, Chris R and Le Ber, Isabelle and Finger, Elizabeth
and Tartaglia, Maria Carmela and Masellis, Mario and Rowe,
James B and Synofzik, Matthis and Moreno, Fermin and
Borroni, Barbara and Rohrer, Jonathan D and Collins, D Louis
and Ducharme, Simon and Coupé, Pierrick and Consortium,
ALLFTD},
collaboration = {Initiative, the Genetic FTD},
othercontributors = {Convery, Rhian and Bocchetta, Martina and Cash, David and
Goldsmith, Sophie and Samra, Kiran and Thomas, David L and
Malpetti, Maura and Alberici, Antonella and Premi, Enrico
and Gasparotti, Roberto and Cantoni, Valentina and Arighi,
Andrea and Fenoglio, Chiara and Borracci, Vittoria and
Serpente, Maria and Carandini, Tiziana and Rotondo, Emanuela
and Rossi, Giacomina and Giaccone, Giorgio and Di Fede,
Giuseppe and Caroppo, Paola and Prioni, Sara and Redaelli,
Veronica and Tang-Wai, David and Rogaeva, Ekaterina and
Krüger, Johanna and Castelo-Branco, Miguel and Freedman,
Morris and Keren, Ron and Black, Sandra and Mitchell, Sara
and Shoesmith, Christen and Bartha, Robart and Rademakers,
Rosa and Poos, Jackie and Papma, Janne M and Giannini, Lucia
and de Boer, Liset and de Houwer, Julie and van Minkelen,
Rick and Pijnenburg, Yolande and Nacmias, Benedetta and
Ferrari, Camilla and Polito, Cristina and Lombardi, Gemma
and Bessi, Valentina and Fainardi, Enrico and Chiti, Stefano
and Nilsson, Mattias and Viklund, Henrik and Rydell, Melissa
Taheri and Jelic, Vesna and Öijerstedt, Linn and
Langheinrich, Tobias and Lladó, Albert and Antonell, Anna
and Olives, Jaume and Balasa, Mircea and Borrego-Ecija,
Sergi and Verdelho, Ana and Maruta, Carolina and
Costa-Coelho, Tiago and Miltenberger, Gabriel and do Couto,
Frederico Simões and Gabilondo, Alazne and Croitoru, Ioana
and Tainta, Mikel and Barandiaran, Myriam and Alves,
Patricia and Bender, Benjamin and Mengel, David and Graf,
Lisa and Vogels, Annick and Vandenbulcke, Mathieu and Van
Damme, Philip and Bruffaerts, Rose and Poesen, Koen and
Rosa-Neto, Pedro and Montembeault, Maxime and Migliaccio,
Raphaella Lara and Burgos, Ninon and Rinaldi, Daisy and
Prix, Catharina and Wlasich, Elisabeth and Wagemann, Olivia
and Schönecker, Sonja and Bernhardt, Alexander Maximilian
and Stockbauer, Anna and Lombardi, Jolina and Anderl-Straub,
Sarah and Rollin, Adeline and Kuchcinski, Gregory and
Deramecourt, Vincent and Durães, João and Lima, Marisa and
Leitão, Maria João and Almeida, Maria Rosario and
Tábuas-Pereira, Miguel and Afonso, Sónia and Lemos, João},
title = {{A}natomical progression of genetic frontotemporal lobar
degeneration across the lifespan.},
journal = {Brain},
volume = {148},
number = {11},
issn = {0006-8950},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DZNE-2025-01248},
pages = {3880 - 3892},
year = {2025},
abstract = {The recent development of brain charts for the human
lifespan offers an ideal modelling framework for pathologies
such as genetic frontotemporal lobar degeneration (FTLD)
which likely involve both neurodevelopmental and
neurodegenerative processes over a lifetime. We have
therefore combined this new methodological approach with MRI
data from asymptomatic and symptomatic subjects, carrying
C9orf72, MAPT or GRN mutations from the Genetic FTD
Initiative (GENFI) and the ARTFL-LEFFTDS Longitudinal
Frontotemporal Lobar Degeneration (ALLFTD) study. We
analysed 37 532 MRIs from control subjects covering the
entire lifespan and a total of 1341 MRIs from subjects with
a pathogenic FTLD mutation, aged from 18 to 86 years old. We
detected the first significant regional brain volume
differences on average at 27 years old in C9orf72 and MAPT
mutation carriers, and at 42 years old in GRN mutation
carriers. The delay between the onset of anatomical changes
and the average age of symptom onset (i.e. the
presymptomatic phase) was 13 years for MAPT, 17 years for
GRN and 34 years for C9orf72 mutation carriers. In terms of
effect size, cumulative atrophy over the lifespan was twice
as severe in affected brain regions in MAPT than in GRN or
C9orf72 mutation carriers. However, the neurodegenerative
process was spatially more extensive in C9orf72 (35 brain
regions affected out of the 61 tested) compared with GRN or
MAPT mutation carriers (25 and 18 regions, respectively).
Schematically, the chronological staging of atrophy
progression showed an initial involvement of the thalamus in
C9orf72 expansion carriers, followed by the
fronto-temporo-insular regions, the striatum and the
amygdala. In GRN mutation carriers, atrophy began in
fronto-insular areas, before progressing toward subcortical
structures. In MAPT mutation carriers, atrophy affected the
anterior temporal pole with the amygdala and hippocampus,
before progressing to fronto-insular regions and the
striatum. Our results using brain charts for the human
lifespan show that C9orf72 is the most diffuse but also the
slowest to emerge among genetic FTLD. MAPT FTLD is more
aggressive and focal, while GRN FTLD is also rapidly
progressive but with a later onset of the presymptomatic
phase. Beyond quantification of the anatomical progression
of genetic FTLD over the lifespan, these results may help
determine the best timing to model and test
disease-modifying strategies in FTLD, and monitor their
effect in future clinical trials.},
keywords = {Humans / Middle Aged / Adult / Male / Frontotemporal Lobar
Degeneration: genetics / Frontotemporal Lobar Degeneration:
pathology / Female / Progranulins / Aged / C9orf72 Protein:
genetics / Disease Progression / tau Proteins: genetics /
Magnetic Resonance Imaging / Adolescent / Aged, 80 and over
/ Young Adult / Mutation: genetics / Brain: pathology /
Atrophy: pathology / Longitudinal Studies / Intercellular
Signaling Peptides and Proteins: genetics / Proteins:
genetics / C9orf72 (Other) / GRN (Other) / MAPT (Other) /
brain charts (Other) / frontotemporal lobar degeneration
(Other) / lifespan (Other) / Progranulins (NLM Chemicals) /
C9orf72 Protein (NLM Chemicals) / tau Proteins (NLM
Chemicals) / C9orf72 protein, human (NLM Chemicals) / GRN
protein, human (NLM Chemicals) / MAPT protein, human (NLM
Chemicals) / Intercellular Signaling Peptides and Proteins
(NLM Chemicals) / Proteins (NLM Chemicals)},
cin = {Clinical Research (Munich) / AG Levin},
ddc = {610},
cid = {I:(DE-2719)1111015 / I:(DE-2719)1111016},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40424598},
doi = {10.1093/brain/awaf195},
url = {https://pub.dzne.de/record/281877},
}
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