The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort.

C9orf72 Protein / genetics Frontotemporal Dementia / diagnostic imaging Humans Magnetic Resonance Imaging Mutation / genetics Progranulins / genetics Social Cognition tau Proteins / genetics

C9orf72 CDR® plus NACC FTLD Familial Frontotemporal dementia GRN MAPT RSMS VBM

Journal

Alzheimer's research & therapy

ISSN: 1758-9193

Titre abrégé: Alzheimers Res Ther

Pays: England

ID NLM: 101511643

Informations de publication

Date de publication:
12 07 2021

Historique:

received: 15 02 2021

accepted: 20 06 2021

entrez: 13 7 2021

pubmed: 14 7 2021

medline: 14 8 2021

Statut: epublish

Résumé

Although social cognitive dysfunction is a major feature of frontotemporal dementia (FTD), it has been poorly studied in familial forms. A key goal of studies is to detect early cognitive impairment using validated measures in large patient cohorts. We used the Revised Self-Monitoring Scale (RSMS) as a measure of socioemotional sensitivity in 730 participants from the genetic FTD initiative (GENFI) observational study: 269 mutation-negative healthy controls, 193 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers. All participants underwent the standardised GENFI clinical assessment including the 'CDR® plus NACC FTLD' scale and RSMS. The RSMS total score and its two subscores, socioemotional expressiveness (EX score) and modification of self-presentation (SP score) were measured. Volumetric T1-weighted magnetic resonance imaging was available from 377 mutation carriers for voxel-based morphometry (VBM) analysis. The RSMS was decreased in symptomatic mutation carriers in all genetic groups but at a prodromal stage only in the C9orf72 (for the total score and both subscores) and GRN (for the modification of self-presentation subscore) groups. RSMS score correlated with disease severity in all groups. The VBM analysis implicated an overlapping network of regions including the orbitofrontal cortex, insula, temporal pole, medial temporal lobe and striatum. The RSMS indexes socioemotional impairment at an early stage of genetic FTD and may be a suitable outcome measure in forthcoming trials.

Sections du résumé

BACKGROUND

METHODS

We used the Revised Self-Monitoring Scale (RSMS) as a measure of socioemotional sensitivity in 730 participants from the genetic FTD initiative (GENFI) observational study: 269 mutation-negative healthy controls, 193 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers. All participants underwent the standardised GENFI clinical assessment including the 'CDR® plus NACC FTLD' scale and RSMS. The RSMS total score and its two subscores, socioemotional expressiveness (EX score) and modification of self-presentation (SP score) were measured. Volumetric T1-weighted magnetic resonance imaging was available from 377 mutation carriers for voxel-based morphometry (VBM) analysis.

RESULTS

The RSMS was decreased in symptomatic mutation carriers in all genetic groups but at a prodromal stage only in the C9orf72 (for the total score and both subscores) and GRN (for the modification of self-presentation subscore) groups. RSMS score correlated with disease severity in all groups. The VBM analysis implicated an overlapping network of regions including the orbitofrontal cortex, insula, temporal pole, medial temporal lobe and striatum.

CONCLUSIONS

The RSMS indexes socioemotional impairment at an early stage of genetic FTD and may be a suitable outcome measure in forthcoming trials.

Identifiants

DOI: 10.1186/s13195-021-00865-w PMID: 34253227 PMC: PMC8276486

pubmed: 34253227

doi: 10.1186/s13195-021-00865-w

pii: 10.1186/s13195-021-00865-w

pmc: PMC8276486

doi:

Substances chimiques

C9orf72 Protein 0

Progranulins 0

tau Proteins 0

Types de publication

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

Langues

eng