Titre :

Extending the phenotypic spectrum assessed by the CDR plus NACC FTLD in genetic frontotemporal dementia

Auteur(s) :

Samra, Kiran [Auteur]
UCL Queen Square Institute of Neurology
Peakman, Georgia [Auteur]
UCL Queen Square Institute of Neurology
Macdougall, Amy M. [Auteur]
London School of Hygiene and Tropical Medicine [LSHTM]
Bouzigues, Arabella [Auteur]
UCL Queen Square Institute of Neurology
Greaves, Caroline V. [Auteur]
UCL Queen Square Institute of Neurology
Convery, Rhian S. [Auteur]
UCL Queen Square Institute of Neurology
Van Swieten, John C. [Auteur]
Erasmus University Medical Center [Rotterdam] [Erasmus MC]
Jiskoot, Lize [Auteur]
Erasmus University Medical Center [Rotterdam] [Erasmus MC]
Seelaar, Harro [Auteur]
Erasmus University Medical Center [Rotterdam] [Erasmus MC]
Moreno, Fermin [Auteur]
BioDonostia Health Research Institute = Instituto de Investigación Sanitaria Biodonostia
Hospital Universitario Donostia [San Sebastian, Spain] [HUD]
Sanchez-Valle, Raquel [Auteur]
Institut d'Investigacions Biomèdiques August Pi i Sunyer [IDIBAPS]
Laforce, Robert [Auteur]
CHU de Québec–Université Laval
Graff, Caroline [Auteur]
Karolinska University Hospital [Stockholm]
Karolinska Institute
Masellis, Mario [Auteur]
Sunnybrook Health Sciences Centre [Toronto] [Sunnybrook]
Tartaglia, Maria Carmela [Auteur]
Tanz Center Research in Neurodegenerative Diseases [Toronto]
Rowe, James B. [Auteur]
Department of Clinical Neurosciences [Cambridge]
Borroni, Barbara [Auteur]
Università degli Studi di Brescia = University of Brescia [UniBs]
Finger, Elizabeth [Auteur]
University of Western Ontario [UWO]
Synofzik, Matthis [Auteur]
Hertie Institute for Clinical Brain Research [Tubingen]
German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen [DZNE]
Galimberti, Daniela [Auteur]
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Centro Dino Ferrari [Milano]
Vandenberghe, Rik [Auteur]
University Hospitals Leuven [Leuven]
Catholic University of Leuven = Katholieke Universiteit Leuven [KU Leuven]
De Mendonça, Alexandre [Auteur]
Faculdade de Medicina [Lisboa]
Butler, Chris R. [Auteur]
Imperial College London
University of Oxford
Gerhard, Alexander [Auteur]
Wolfson Molecular Imaging Centre [WMIC]
Universität Duisburg-Essen = University of Duisburg-Essen [Essen]
Ducharme, Simon [Auteur]
McGill University Health Center [Montreal] [MUHC]
McConnell Brain Imaging Centre [MNI]
Le Ber, Isabelle [Auteur]
CHU Pitié-Salpêtrière [AP-HP]
Universitätsklinikum Tübingen - University Hospital of Tübingen
Institut du Cerveau = Paris Brain Institute [ICM]
Tiraboschi, Pietro [Auteur]
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Santana, Isabel [Auteur]
Hospitais da Universidade de Coimbra [H.U.C.]
Universidade de Coimbra = University of Coimbra [Portugal] [UC]
Pasquier, Florence [Auteur]
Université de Lille
Lille Neurosciences & Cognition (LilNCog) - U 1172
Lille Centre of Excellence for Neurodegenerative Disorders = Centre d'excellence des maladies neurodégénératives de Lille [LiCEND]
Levin, Johannes [Auteur]
Munich Cluster for systems neurology [Munich] [SyNergy]
German Research Center for Neurodegenerative Diseases - Deutsches Zentrum für Neurodegenerative Erkrankungen [DZNE]
Ludwig Maximilian University [Munich] = Ludwig Maximilians Universität München [LMU]
Otto, Markus [Auteur]
Universität Ulm - Ulm University [Ulm, Allemagne]
Sorbi, Sandro [Auteur]
Fondazione Don Carlo Gnocchi
Università degli Studi di Firenze = University of Florence = Université de Florence [UniFI]
Rohrer, Jonathan D. [Auteur]
UCL Queen Square Institute of Neurology
Russell, Lucy L. [Auteur]
Dementia Research Centre [London] [DRC]

Titre de la revue :

Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring

Nom court de la revue :

Alzheimers Dement (Amst)

Numéro :

16

Pagination :

e12571

Éditeur :

Wiley

Date de publication :

2024-04-14

ISSN :

2352-8729

Mot(s)-clé(s) en anglais :

C9orf72
frontotemporal dementia
genetics
progranulin
tau

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

INTRODUCTION : We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and ...
Lire la suite >INTRODUCTION : We aimed to expand the range of the frontotemporal dementia (FTD) phenotypes assessed by the Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains (CDR plus NACC FTLD). METHODS : Neuropsychiatric and motor domains were added to the standard CDR plus NACC FTLD generating a new CDR plus NACC FTLD-NM scale. This was assessed in 522 mutation carriers and 310 mutation-negative controls from the Genetic Frontotemporal dementia Initiative (GENFI). RESULTS : The new scale led to higher global severity scores than the CDR plus NACC FTLD: 1.4% of participants were now considered prodromal rather than asymptomatic, while 1.3% were now considered symptomatic rather than asymptomatic or prodromal. No participants with a clinical diagnosis of an FTD spectrum disorder were classified as asymptomatic using the new scales. DISCUSSION : Adding new domains to the CDR plus NACC FTLD leads to a scale that encompasses the wider phenotypic spectrum of FTD with further work needed to validate its use more widely. Highlights - The new Clinical Dementia Rating Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behavior and Language Domains neuropsychiatric and motor (CDR plus NACC FTLD-NM) rating scale was significantly positively correlated with the original CDR plus NACC FTLD and negatively correlated with the FTD Rating Scale (FRS). - No participants with a clinical diagnosis in the frontotemporal dementia spectrum were classified as asymptomatic with the new CDR plus NACC FTLD-NM rating scale. - Individuals had higher global severity scores with the addition of the neuropsychiatric and motor domains. - A receiver operating characteristic analysis of symptomatic diagnosis showed nominally higher areas under the curve for the new scales.Lire moins >

Langue :

Anglais

Comité de lecture :

Oui

Audience :

Internationale

Vulgarisation :

Non

Autre(s) projet(s) ou source(s) de financement :

JPND GENFI-PROX. Grant Numbers: 2019-02248, DLR/DFG 01ED2008B
Alzheimer's Research UK. Grant Number: ARUK-CRF2017B-2
Association for Frontotemporal Dementias Research. Grant Number: 2009
Deutsche Forschungsgemeinschaft. Grant Number: EXC 2145 SyNergy – ID 390857198
DFG, German Research Foundation. Grant Number: 01ED2008B
European Reference Network for Rare Neurological Diseases (ERN-RND). Grant Number: 739510
GENFI. Grant Number: MR/M023664/1
Germany's Excellence Strategy. Grant Numbers: 390857198, EXC 2145
Government of Canada, Canadian Institutes of Health Research. Grant Numbers: 327387, MOP- 371851, PJT-175242
Instituto de Salud Carlos III. Grant Number: PI20/00448
Fundació Marató TV3 . Grant Number: 20143810
Italian Ministry of Health
JPND Prefrontals. Grant Number: 2015-029262018-02754
Karolinska Institutet, Doctoral Funding
MRC UK GENFI. Grant Number: MR/M023664/1
National Brain Appeal. Grant Number: RCN 290173
National Institute for Health Research (NIHR). Grant Number: BRC-1215-20014
National Institute for Health Research Queen Square Dementia, Biomedical Research Unit; NIHR Rare Disease Translational Research Collaboration. Grant Number: BRC149/NS/MH
The Wolfson Foundation
UK Dementia Research Institute. Grant Number: SM-UCLO-MA-0519
UK Medical Research Council. Grant Number: SUAG/051 G101400
University College London Hospitals Biomedical Research Centre
Wellcome Trust. Grant Number: 103838
National Institute for Health Research Cambridge Biomedical Research Centre
Mady Browaeys Fund for Research into Frontotemporal Dementia
Miriam Marks Brain Research UK Senior

Établissement(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Équipe(s) de recherche :

Troubles cognitifs dégénératifs et vasculaires

Date de dépôt :

2024-05-30T21:04:59Z
2025-02-25T14:40:06Z