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Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study

Russell, Lucy Louise; Bouzigues, Arabella; Convery, Rhian S; Foster, Phoebe H; Ferry-Bolder, Eve; Cash, David M; Van Swieten, John C; ... Rohrer, Jonathan Daniel; + view all (2025) Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study. Neurology Genetics , 11 (4) , Article e200248. 10.1212/NXG.0000000000200248. Green open access

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Abstract

Background and Objectives Executive dysfunction is a core feature of frontotemporal dementia (FTD). While there has been extensive research into such impairments in sporadic FTD, there has been little research in the familial forms. Methods Seven hundred fifty-two individuals were recruited in total: 214 C9orf72; 205 progranulin (GRN) and 86 microtubule associated protein tau (MAPT) mutation carriers, stratified into asymptomatic, prodromal, and fully symptomatic; and 247 mutation-negative controls. Attention and executive function were measured using the Weschler Memory Scale-Revised (WMS-R) Digit Span Backwards (DSB), Wechsler Adult Intelligence Scale-Revised Digit Symbol task, Trail Making Test Parts A and B, and the Delis-Kaplan Executive Function System Color Word Interference Test. Linear regression models with bootstrapping were used to assess differences between groups. Correlation of task score with disease severity was also performed, as well as an analysis of the neuroanatomical correlates of each task.

Type: Article
Title: Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1212/NXG.0000000000200248
Publisher version: https://doi.org/10.1212/nxg.0000000000200248
Language: English
Additional information: This work is licensed under a Creative Commons License. The images or other third-party material in this article are included in the Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Clinical Neurology, Neurosciences & Neurology, SYMBOL SUBSTITUTION TEST, BEHAVIORAL-VARIANT, SEX-DIFFERENCES, NORMATIVE DATA, DIAGNOSTIC-CRITERIA, VERBAL FLUENCY, TEST-B, DYSFUNCTION, AGE, PERFORMANCE
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10215445
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