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@ARTICLE{Bouzigues:164026,
author = {Bouzigues, Arabella and Russell, Lucy L and Peakman,
Georgia and Bocchetta, Martina and Greaves, Caroline V and
Convery, Rhian S and Todd, Emily and Rowe, James B and
Borroni, Barbara and Galimberti, Daniela and Tiraboschi,
Pietro and Masellis, Mario and Tartaglia, Maria Carmela and
Finger, Elizabeth and van Swieten, John C and Seelaar, Harro
and Jiskoot, Lize and Sorbi, Sandro and Butler, Chris R and
Graff, Caroline and Gerhard, Alexander and Langheinrich,
Tobias and Laforce, Robert and Sanchez-Valle, Raquel and de
Mendonça, Alexandre and Moreno, Fermin and Synofzik,
Matthis and Vandenberghe, Rik and Ducharme, Simon and Le
Ber, Isabelle and Levin, Johannes and Danek, Adrian and
Otto, Markus and Pasquier, Florence and Santana, Isabel and
Rohrer, Jonathan D and Esteve, Aitana Sogorb and Nelson,
Annabel and Bouzigues, Arabella and Heller, Carolin and
Greaves, Caroline V and Cash, David and Thomas, David L and
Todd, Emily and Benotmane, Hanya and Zetterberg, Henrik and
Swift, Imogen J and Nicholas, Jennifer and Samra, Kiran and
Russell, Lucy L and Bocchetta, Martina and Shafei, Rachelle
and Convery, Rhian S and Timberlake, Carolyn and Cope,
Thomas and Rittman, Timothy and Benussi, Alberto and Premi,
Enrico and Gasparotti, Roberto and Archetti, Silvana and
Gazzina, Stefano and Cantoni, Valentina and Arighi, Andrea
and Fenoglio, Chiara and Scarpini, Elio and Fumagalli,
Giorgio and Borracci, Vittoria and Rossi, Giacomina and
Giaccone, Giorgio and Caroppo, Paola and Tiraboschi, Pietro
and Prioni, Sara and Redaelli, Veronica and Tang-Wai, David
and Rogaeva, Ekaterina and Castelo-Branco, Miguel 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 Minkelen,
Rick and Pijnenburg, Yolande and Nacmias, Benedetta and
Ferrari, Camilla and Polito, Cristina and Lombardi, Gemma
and Bessi, Valentina and Veldsman, Michele and Andersson,
Christin and Thonberg, Hakan and Öijerstedt, Linn and
Jelic, Vesna and Thompson, Paul and Langheinrich, Tobias and
Lladó, Albert and Antonell, Anna and Olives, Jaume and
Balasa, Mircea and Bargalló, Nuria and Borrego-Ecija, Sergi
and Verdelho, Ana and Maruta, Carolina and Ferreira,
Catarina B and Miltenberger, Gabriel and do Couto, Frederico
Simões and Gabilondo, Alazne and Gorostidi, Ana and
Villanua, Jorge and Cañada, Marta and Tainta, Mikel and
Zulaica, Miren and Barandiaran, Myriam and Alves, Patricia
and Bender, Benjamin and Wilke, Carlo and Graf, Lisa and
Vogels, Annick and Vandenbulcke, Mathieu and Van Damme,
Philip and Bruffaerts, Rose and Poesen, Koen and Rosa-Neto,
Pedro and Gauthier, Serge and Camuzat, Agnès and Brice,
Alexis and Bertrand, Anne and Funkiewiez, Aurélie and
Rinaldi, Daisy and Saracino, Dario and Colliot, Olivier and
Sayah, Sabrina and Prix, Catharina and Wlasich, Elisabeth
and Wagemann, Olivia and Loosli, Sandra and Schönecker,
Sonja and Hoegen, Tobias and Lombardi, Jolina and
Anderl-Straub, Sarah and Rollin, Adeline and Kuchcinski,
Gregory and Bertoux, Maxime and Lebouvier, Thibaud and
Deramecourt, Vincent and Santiago, Beatriz and Duro, Diana
and Leitão, Maria João and Almeida, Maria Rosario and
Tábuas-Pereira, Miguel and Afonso, Sónia and Engel,
Annerose and Polyakova, Maryna},
collaboration = {Genetic FTD Initiative, GENFI},
title = {{A}nomia is present pre-symptomatically in frontotemporal
dementia due to {MAPT} mutations.},
journal = {Journal of neurology},
volume = {269},
number = {8},
issn = {0340-5354},
address = {Berlin},
publisher = {Springer},
reportid = {DZNE-2022-00689},
pages = {4322-4332},
year = {2022},
note = {ISSN 1432-1459 not unique: **2 hits**.(CC BY)},
abstract = {A third of frontotemporal dementia (FTD) is caused by an
autosomal-dominant genetic mutation in one of three genes:
microtubule-associated protein tau (MAPT), chromosome 9 open
reading frame 72 (C9orf72) and progranulin (GRN). Prior
studies of prodromal FTD have identified impaired executive
function and social cognition early in the disease but few
have studied naming in detail.We investigated performance on
the Boston Naming Test (BNT) in the GENetic Frontotemporal
dementia Initiative cohort of 499 mutation carriers and 248
mutation-negative controls divided across three genetic
groups: C9orf72, MAPT and GRN. Mutation carriers were
further divided into 3 groups according to their global CDR
plus NACC FTLD score: 0 (asymptomatic), 0.5 (prodromal) and
1 + (fully symptomatic). Groups were compared using a
bootstrapped linear regression model, adjusting for age,
sex, language and education. Finally, we identified neural
correlates of anomia within carriers of each genetic group
using a voxel-based morphometry analysis.All symptomatic
groups performed worse on the BNT than controls with the
MAPT symptomatic group scoring the worst. Furthermore, MAPT
asymptomatic and prodromal groups performed significantly
worse than controls. Correlates of anomia in MAPT mutation
carriers included bilateral anterior temporal lobe regions
and the anterior insula. Similar bilateral anterior temporal
lobe involvement was seen in C9orf72 mutation carriers as
well as more widespread left frontal atrophy. In GRN
mutation carriers, neural correlates were limited to the
left hemisphere, and involved frontal, temporal, insula and
striatal regions.This study suggests the development of
early anomia in MAPT mutation carriers, likely to be
associated with impaired semantic knowledge. Clinical trials
focused on the prodromal period within individuals with MAPT
mutations should use language tasks, such as the BNT for
patient stratification and as outcome measures.},
keywords = {Anomia: complications / C9orf72 Protein: genetics /
Frontotemporal Dementia: complications / Frontotemporal
Dementia: diagnostic imaging / Frontotemporal Dementia:
genetics / Humans / Mutation / Progranulins: genetics / tau
Proteins: genetics / C9orf72 (Other) / Cognition (Other) /
Frontotemporal dementia (Other) / Naming (Other) /
Progranulin (Other) / Tau (Other)},
cin = {AG Gasser 1 / Clinical Dementia Research München},
ddc = {610},
cid = {I:(DE-2719)1210000 / I:(DE-2719)1111016},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pmc = {pmc:PMC9294015},
pubmed = {pmid:35348856},
doi = {10.1007/s00415-022-11068-0},
url = {https://pub.dzne.de/record/164026},
}
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