Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/103558
Title: Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study
Authors: Poos, Jackie M
Russell, Lucy L
Peakman, Georgia
Bocchetta, Martina
Greaves, Caroline V
Jiskoot, Lize C
van der Ende, Emma L
Seelaar, Harro
Papma, Janne M
van den Berg, Esther
Pijnenburg, Yolande A L
Borroni, Barbara
Sánchez-Valle, Raquel 
Moreno, Fermin
Laforce, Robert
Graff, Caroline
Synofzik, Matthias
Galimberti, Daniela
Rowe, James B
Masellis, Mario
Tartaglia, Carmela
Finger, Elizabeth
Vandenberghe, Rik
de Medonça, Alexandre
Tagliavini, Fabrizio 
Butler, Chris R
Santana, Isabel 
Ber, Isabelle Le
Gerhard, Alex
Ducharme, Simon
Levin, Johannes
Danek, Adrian
Otto, Markus
Sorbi, Sandro
Pasquier, Florence
van Swieten, John C
Rohrer, Jonathan D. 
Keywords: cognition; episodic memory; executive function; frontal lobe; frontotemporal dementia; genetic disorders; neuropsychology; temporal lobe; voxel-basedmorphometry
Issue Date: 2021
Publisher: John Wiley and Sons Inc
Project: Alzheimer’s Research UK, Alzheimer’s Society, Brain Research UK, and The Wolfson Foundation 
NIHR UCL/H Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd, funded by the UK Medical Research Council, Alzheimer’s Society, and Alzheimer’s Research UK 
J. D. Rohrer is supported by an MRC Clinician Scientist Fellowship (MR/M008525/1) and has received funding from the NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH) 
This work was also supported by the MRC UK GENFI grant (MR/M023664/1); the Bluefield Project; the JPND GENFI-PROX grant (2019-02248); the Dioraphte Foundation (grant numbers 09-02-00); the Association for Frontotemporal Dementias Research Grant 2009; The Netherlands Organization for Scientific Research (NWO; grant HCMI 056-13-018); ZonMw Memorabel (Deltaplan Dementie, project numbers 733 050 103 and 733 050 813); JPND PreFrontAls consortium (project number 733051042). J. M. Poos is supported by a Fellowship award from Alzheimer Nederland (WE.15-2019.02). 
Serial title, monograph or event: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring
Volume: 13
Issue: 1
Abstract: Introduction:We aimed to assess episodic memory in genetic frontotemporal dementia (FTD) with the Free and Cued Selective Reminding Test (FCSRT). Methods: The FCSRT was administered in 417 presymptomatic and symptomatic mutation carriers (181 chromosome 9 open reading frame 72 [C9orf72], 163 progranulin [GRN], and 73microtubule-associated protein tau [MAPT]) and 290 controls.Group differences and correlations with other neuropsychological tests were examined.We performed voxel-based morphometry to investigate the underlying neural substrates of the FCSRT. Results: All symptomatic mutation carrier groups and presymptomatic MAPT mutation carriers performed significantly worse on all FCSRT scores compared to controls. In the presymptomatic C9orf72 group, deficits were found on all scores except for the delayed total recall task,while no deficits were found in presymptomaticGRNmutation carriers. Performance on the FCSRT correlated with executive function, particularly in C9orf72 mutation carriers, but also with memory and naming tasks in the MAPT group. FCSRT performance also correlatedwith graymatter volumes of frontal, temporal, and subcortical regions in C9orf72 and GRN, but mainly temporal areas in MAPT mutation carriers. Discussion: The FCSRT detects presymptomatic deficits in C9orf72- and MAPTassociated FTD and provides important insight into the underlying cause of memory impairment in different forms of FTD.
URI: https://hdl.handle.net/10316/103558
ISSN: 2352-8729
DOI: 10.1002/dad2.12185
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais

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