Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.

Bouzigues, Arabella; Bouzigues, Arabella; Keren, Ron; Gerhard, Alexander; Bocchetta, Martina; Rollin, Adeline; Esteve, Aitana Sogorb; Premi, Enrico; Heller, Carolin; Camuzat, Agnès; Finger, Elizabeth; Lebouvier, Thibaud; Arighi, Andrea; Synofzik, Matthis; Danek, Adrian; Borroni, Barbara; Bertoux, Maxime; Timberlake, Carolyn; Santana, Isabel; Wilke, Carlo; Verdelho, Ana; Ferrari, Camilla; Poesen, Koen; Bessi, Valentina; Barandiaran, Myriam; Wlasich, Elisabeth; Cash, David; Bertrand, Anne; Polyakova, Maryna; Lombardi, Gemma; Balasa, Mircea; Borrego-Ecija, Sergi; Lladó, Albert; Zulaica, Miren; Alves, Patricia; Tainta, Mikel; Rogaeva, Ekaterina; Convery, Rhian S; Papma, Janne M; Antonell, Anna; Tartaglia, Maria Carmela; Shoesmith, Christen; Graf, Lisa; Santiago, Beatriz; Veldsman, Michele; Thompson, Paul; Nacmias, Benedetta; Thonberg, Hakan; Gauthier, Serge; Sorbi, Sandro; Leitão, Maria João; Prioni, Sara; Hoegen, Tobias; Vogels, Annick; Kuchcinski, Gregory; Colliot, Olivier; Pasquier, Florence; Duro, Diana; Nelson, Annabel; Thomas, David L; Sayah, Sabrina; Pijnenburg, Yolande; Schönecker, Sonja; Cañada, Marta; Lombardi, Jolina; Deramecourt, Vincent; Redaelli, Veronica; Giaccone, Giorgio; de Mendonça, Alexandre; Zetterberg, Henrik; Gazzina, Stefano; Galimberti, Daniela; Miltenberger, Gabriel; Anderl-Straub, Sarah; Saracino, Dario; van Swieten, John C; Bartha, Robart; Rowe, James B; Rossi, Giacomina; Mitchell, Sara; Moreno, Fermin; Funkiewiez, Aurélie; Nicholas, Jennifer; Rohrer, Jonathan D; Russell, Lucy L; Rinaldi, Daisy; Todd, Emily; Peakman, Georgia; Archetti, Silvana; Rademakers, Rosa; Butler, Chris R; Öijerstedt, Linn; Loosli, Sandra; Graff, Caroline; Laforce, Robert; Rittman, Timothy; Fenoglio, Chiara; Cantoni, Valentina; Caroppo, Paola; Masellis, Mario; Gabilondo, Alazne; Villanua, Jorge; Ferreira, Catarina B; Bargalló, Nuria; Maruta, Carolina; Castelo-Branco, Miguel; Engel, Annerose; Vandenbulcke, Mathieu; Prix, Catharina; Brice, Alexis; Otto, Markus; Borracci, Vittoria; Jiskoot, Lize; Giannini, Lucia; Polito, Cristina; Jelic, Vesna; Tang-Wai, David; Wagemann, Olivia; Greaves, Caroline V; Swift, Imogen J; Benussi, Alberto; Scarpini, Elio; Sanchez-Valle, Raquel; Tiraboschi, Pietro; Afonso, Sónia; Tábuas-Pereira, Miguel; Cope, Thomas; Bender, Benjamin; Seelaar, Harro; Vandenberghe, Rik; Poos, Jackie; Olives, Jaume; Gasparotti, Roberto; Le Ber, Isabelle; Langheinrich, Tobias; Black, Sandra; Van Damme, Philip; Bruffaerts, Rose; Fumagalli, Giorgio; Levin, Johannes; Rosa-Neto, Pedro; Shafei, Rachelle; Almeida, Maria Rosario; do Couto, Frederico Simões; Genetic FTD Initiative, GENFI; Samra, Kiran; Minkelen, Rick; Ducharme, Simon; Andersson, Christin; Gorostidi, Ana; Benotmane, Hanya

doi:10.1007/s00415-022-11068-0

TY  - JOUR
AU  - Bouzigues, Arabella
AU  - Russell, Lucy L
AU  - Peakman, Georgia
AU  - Bocchetta, Martina
AU  - Greaves, Caroline V
AU  - Convery, Rhian S
AU  - Todd, Emily
AU  - Rowe, James B
AU  - Borroni, Barbara
AU  - Galimberti, Daniela
AU  - Tiraboschi, Pietro
AU  - Masellis, Mario
AU  - Tartaglia, Maria Carmela
AU  - Finger, Elizabeth
AU  - van Swieten, John C
AU  - Seelaar, Harro
AU  - Jiskoot, Lize
AU  - Sorbi, Sandro
AU  - Butler, Chris R
AU  - Graff, Caroline
AU  - Gerhard, Alexander
AU  - Langheinrich, Tobias
AU  - Laforce, Robert
AU  - Sanchez-Valle, Raquel
AU  - de Mendonça, Alexandre
AU  - Moreno, Fermin
AU  - Synofzik, Matthis
AU  - Vandenberghe, Rik
AU  - Ducharme, Simon
AU  - Le Ber, Isabelle
AU  - Levin, Johannes
AU  - Danek, Adrian
AU  - Otto, Markus
AU  - Pasquier, Florence
AU  - Santana, Isabel
AU  - Rohrer, Jonathan D
AU  - Esteve, Aitana Sogorb
AU  - Nelson, Annabel
AU  - Bouzigues, Arabella
AU  - Heller, Carolin
AU  - Greaves, Caroline V
AU  - Cash, David
AU  - Thomas, David L
AU  - Todd, Emily
AU  - Benotmane, Hanya
AU  - Zetterberg, Henrik
AU  - Swift, Imogen J
AU  - Nicholas, Jennifer
AU  - Samra, Kiran
AU  - Russell, Lucy L
AU  - Bocchetta, Martina
AU  - Shafei, Rachelle
AU  - Convery, Rhian S
AU  - Timberlake, Carolyn
AU  - Cope, Thomas
AU  - Rittman, Timothy
AU  - Benussi, Alberto
AU  - Premi, Enrico
AU  - Gasparotti, Roberto
AU  - Archetti, Silvana
AU  - Gazzina, Stefano
AU  - Cantoni, Valentina
AU  - Arighi, Andrea
AU  - Fenoglio, Chiara
AU  - Scarpini, Elio
AU  - Fumagalli, Giorgio
AU  - Borracci, Vittoria
AU  - Rossi, Giacomina
AU  - Giaccone, Giorgio
AU  - Caroppo, Paola
AU  - Tiraboschi, Pietro
AU  - Prioni, Sara
AU  - Redaelli, Veronica
AU  - Tang-Wai, David
AU  - Rogaeva, Ekaterina
AU  - Castelo-Branco, Miguel
AU  - Keren, Ron
AU  - Black, Sandra
AU  - Mitchell, Sara
AU  - Shoesmith, Christen
AU  - Bartha, Robart
AU  - Rademakers, Rosa
AU  - Poos, Jackie
AU  - Papma, Janne M
AU  - Giannini, Lucia
AU  - Minkelen, Rick
AU  - Pijnenburg, Yolande
AU  - Nacmias, Benedetta
AU  - Ferrari, Camilla
AU  - Polito, Cristina
AU  - Lombardi, Gemma
AU  - Bessi, Valentina
AU  - Veldsman, Michele
AU  - Andersson, Christin
AU  - Thonberg, Hakan
AU  - Öijerstedt, Linn
AU  - Jelic, Vesna
AU  - Thompson, Paul
AU  - Langheinrich, Tobias
AU  - Lladó, Albert
AU  - Antonell, Anna
AU  - Olives, Jaume
AU  - Balasa, Mircea
AU  - Bargalló, Nuria
AU  - Borrego-Ecija, Sergi
AU  - Verdelho, Ana
AU  - Maruta, Carolina
AU  - Ferreira, Catarina B
AU  - Miltenberger, Gabriel
AU  - do Couto, Frederico Simões
AU  - Gabilondo, Alazne
AU  - Gorostidi, Ana
AU  - Villanua, Jorge
AU  - Cañada, Marta
AU  - Tainta, Mikel
AU  - Zulaica, Miren
AU  - Barandiaran, Myriam
AU  - Alves, Patricia
AU  - Bender, Benjamin
AU  - Wilke, Carlo
AU  - Graf, Lisa
AU  - Vogels, Annick
AU  - Vandenbulcke, Mathieu
AU  - Van Damme, Philip
AU  - Bruffaerts, Rose
AU  - Poesen, Koen
AU  - Rosa-Neto, Pedro
AU  - Gauthier, Serge
AU  - Camuzat, Agnès
AU  - Brice, Alexis
AU  - Bertrand, Anne
AU  - Funkiewiez, Aurélie
AU  - Rinaldi, Daisy
AU  - Saracino, Dario
AU  - Colliot, Olivier
AU  - Sayah, Sabrina
AU  - Prix, Catharina
AU  - Wlasich, Elisabeth
AU  - Wagemann, Olivia
AU  - Loosli, Sandra
AU  - Schönecker, Sonja
AU  - Hoegen, Tobias
AU  - Lombardi, Jolina
AU  - Anderl-Straub, Sarah
AU  - Rollin, Adeline
AU  - Kuchcinski, Gregory
AU  - Bertoux, Maxime
AU  - Lebouvier, Thibaud
AU  - Deramecourt, Vincent
AU  - Santiago, Beatriz
AU  - Duro, Diana
AU  - Leitão, Maria João
AU  - Almeida, Maria Rosario
AU  - Tábuas-Pereira, Miguel
AU  - Afonso, Sónia
AU  - Engel, Annerose
AU  - Polyakova, Maryna
TI  - Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.
JO  - Journal of neurology
VL  - 269
IS  - 8
SN  - 0340-5354
CY  - Berlin
PB  - Springer
M1  - DZNE-2022-00689
SP  - 4322-4332
PY  - 2022
N1  - ISSN 1432-1459 not unique: **2 hits**.(CC BY)
AB  - 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.
KW  - Anomia: complications
KW  - C9orf72 Protein: genetics
KW  - Frontotemporal Dementia: complications
KW  - Frontotemporal Dementia: diagnostic imaging
KW  - Frontotemporal Dementia: genetics
KW  - Humans
KW  - Mutation
KW  - Progranulins: genetics
KW  - tau Proteins: genetics
KW  - C9orf72 (Other)
KW  - Cognition (Other)
KW  - Frontotemporal dementia (Other)
KW  - Naming (Other)
KW  - Progranulin (Other)
KW  - Tau (Other)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC9294015
C6  - pmid:35348856
DO  - DOI:10.1007/s00415-022-11068-0
UR  - https://pub.dzne.de/record/164026
ER  -

guest :: login DZNEPUB
		Search		Submit		Personalize Your alerts Your baskets Your searches		Help