Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort.

C9orf72 Protein / genetics Frontotemporal Dementia / genetics Humans Magnetic Resonance Imaging Mutation Progranulins / genetics Social Cognition

C9orf72 Emotion processing Facial emotion recognition Faux pas Frontotemporal dementia MAPT Progranulin Theory of mind

Journal

Cortex; a journal devoted to the study of the nervous system and behavior

ISSN: 1973-8102

Titre abrégé: Cortex

Pays: Italy

ID NLM: 0100725

Informations de publication

Date de publication:
12 2020

Historique:

received: 31 03 2020

revised: 06 07 2020

accepted: 22 08 2020

pubmed: 23 11 2020

medline: 22 6 2021

entrez: 22 11 2020

Statut: ppublish

Résumé

A key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognition within the Genetic Frontotemporal Dementia Initiative (GENFI), a large familial FTD cohort of C9orf72, GRN, and MAPT mutation carriers. 627 participants undertook at least one of the tasks, and were separated into mutation-negative healthy controls, presymptomatic mutation carriers (split into early and late groups) and symptomatic mutation carriers. Groups were compared using a linear regression model with bootstrapping, adjusting for age, sex, education, and for the FP recognition test, language. Neural correlates of social cognition deficits were explored using a voxel-based morphometry (VBM) study. All three of the symptomatic genetic groups were impaired on both tasks with no significant difference between them. However, prior to onset, only the late presymptomatic C9orf72 mutation carriers on the FER test were impaired compared to the control group, with a subanalysis showing differences particularly in fear and sadness. The VBM analysis revealed that impaired social cognition was mainly associated with a left hemisphere predominant network of regions involving particularly the striatum, orbitofrontal cortex and insula, and to a lesser extent the inferomedial temporal lobe and other areas of the frontal lobe. In conclusion, theory of mind and emotion processing abilities are impaired in familial FTD, with early changes occurring prior to symptom onset in C9orf72 presymptomatic mutation carriers. Future work should investigate how performance changes over time, in order to gain a clearer insight into social cognitive impairment over the course of the disease.

Identifiants

DOI: 10.1016/j.cortex.2020.08.023 PMID: 33221702 PMC: PMC7754789

pubmed: 33221702

pii: S0010-9452(20)30327-0

doi: 10.1016/j.cortex.2020.08.023

pmc: PMC7754789

pii:

doi:

Substances chimiques

C9orf72 Protein 0

Progranulins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng