Titre :

Differential early subcortical involvement in genetic FTD within the GENFI cohort.

Auteur(s) :

Bocchetta, Martina [Auteur]
Todd, Emily G. [Auteur]
Peakman, Georgia [Auteur]
Cash, David M. [Auteur]
Convery, Rhian S. [Auteur]
Russell, Lucy L. [Auteur]
Thomas, David L. [Auteur]
Iglesias, Juan Eugenio [Auteur]
Van Swieten, John C. [Auteur]
Jiskoot, Lize C. [Auteur]
Seelaar, Harro [Auteur]
Borroni, Barbara [Auteur]
Galimberti, Daniela [Auteur]
Sanchez-Valle, Raquel [Auteur]
Laforce, Robert [Auteur]
Moreno, Fermin [Auteur]
Synofzik, Matthis [Auteur]
Graff, Caroline [Auteur]
Masellis, Mario [Auteur]
Tartaglia, Maria Carmela [Auteur]
Rowe, James B. [Auteur]
Vandenberghe, Rik [Auteur]
Finger, Elizabeth [Auteur]
Tagliavini, Fabrizio [Auteur]
De Mendonça, Alexandre [Auteur]
Santana, Isabel [Auteur]
Butler, Chris R. [Auteur]
Ducharme, Simon [Auteur]
Gerhard, Alexander [Auteur]
Danek, Adrian [Auteur]
Levin, Johannes [Auteur]
Otto, Markus [Auteur]
Sorbi, Sandro [Auteur]
Le Ber, Isabelle [Auteur]
Sorbonne Université [SU]
Pasquier, Florence [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Rohrer, Jonathan D. [Auteur]

Titre de la revue :

Neuroimage-Clinical

Numéro :

30

Date de publication :

2021-03-29

ISSN :

2213-1582

Mot(s)-clé(s) :

Genetic frontotemporal dementia
MRI imaging
Brain volumetry
Presymptomatic stage

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Background Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations have also identified early deep grey matter volume loss, little is known about the extent ...
Lire la suite >Background Studies have previously shown evidence for presymptomatic cortical atrophy in genetic FTD. Whilst initial investigations have also identified early deep grey matter volume loss, little is known about the extent of subcortical involvement, particularly within subregions, and how this differs between genetic groups. Methods 480 mutation carriers from the Genetic FTD Initiative (GENFI) were included (198 GRN, 202 C9orf72, 80 MAPT), together with 298 non-carrier cognitively normal controls. Cortical and subcortical volumes of interest were generated using automated parcellation methods on volumetric 3 T T1-weighted MRI scans. Mutation carriers were divided into three disease stages based on their global CDR® plus NACC FTLD score: asymptomatic (0), possibly or mildly symptomatic (0.5) and fully symptomatic (1 or more). Results In all three groups, subcortical involvement was seen at the CDR 0.5 stage prior to phenoconversion, whereas in the C9orf72 and MAPT mutation carriers there was also involvement at the CDR 0 stage. In the C9orf72 expansion carriers the earliest volume changes were in thalamic subnuclei (particularly pulvinar and lateral geniculate, 9–10%) cerebellum (lobules VIIa-Crus II and VIIIb, 2–3%), hippocampus (particularly presubiculum and CA1, 2–3%), amygdala (all subregions, 2–6%) and hypothalamus (superior tuberal region, 1%). In MAPT mutation carriers changes were seen at CDR 0 in the hippocampus (subiculum, presubiculum and tail, 3–4%) and amygdala (accessory basal and superficial nuclei, 2–4%). GRN mutation carriers showed subcortical differences at CDR 0.5 in the presubiculum of the hippocampus (8%). Conclusions C9orf72 expansion carriers show the earliest and most widespread changes including the thalamus, basal ganglia and medial temporal lobe. By investigating individual subregions, changes can also be seen at CDR 0 in MAPT mutation carriers within the limbic system. Our results suggest that subcortical brain volumes may be used as markers of neurodegeneration even prior to the onset of prodromal symptoms.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Date de dépôt :

2024-01-16T02:13:20Z
2024-11-13T13:10:30Z