Motor symptoms in genetic frontotemporal ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.
Auteur(s) :
Samra, K. [Auteur]
UCL Institute of Neurology, Queen Square [London]
Macdougall, A. M. [Auteur]
Peakman, G. [Auteur]
Bouzigues, A. [Auteur]
Bocchetta, M. [Auteur]
Cash, D. M. [Auteur]
Greaves, C. V. [Auteur]
Convery, R. S. [Auteur]
Van Swieten, J. C. [Auteur]
Jiskoot, L. [Auteur]
Seelaar, H. [Auteur]
Moreno, F. [Auteur]
Sanchez-Valle, R. [Auteur]
Laforce, R. [Auteur]
Graff, C. [Auteur]
Masellis, M. [Auteur]
Tartaglia, C. [Auteur]
Rowe, J. B. [Auteur]
Borroni, B. [Auteur]
Finger, E. [Auteur]
Synofzik, M. [Auteur]
Galimberti, D. [Auteur]
Vandenberghe, R. [Auteur]
De Mendonça, A. [Auteur]
Butler, C. R. [Auteur]
Gerhard, A. [Auteur]
Ducharme, S. [Auteur]
Le Ber, I. [Auteur]
Tiraboschi, P. [Auteur]
Santana, I. [Auteur]
Pasquier, Florence [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Levin, J. [Auteur]
Otto, M. [Auteur]
Sorbi, S. [Auteur]
Rohrer, J. D. [Auteur]
Russell, L. L. [Auteur]
UCL Institute of Neurology, Queen Square [London]
UCL Institute of Neurology, Queen Square [London]
Macdougall, A. M. [Auteur]
Peakman, G. [Auteur]
Bouzigues, A. [Auteur]
Bocchetta, M. [Auteur]
Cash, D. M. [Auteur]
Greaves, C. V. [Auteur]
Convery, R. S. [Auteur]
Van Swieten, J. C. [Auteur]
Jiskoot, L. [Auteur]
Seelaar, H. [Auteur]
Moreno, F. [Auteur]
Sanchez-Valle, R. [Auteur]
Laforce, R. [Auteur]
Graff, C. [Auteur]
Masellis, M. [Auteur]
Tartaglia, C. [Auteur]
Rowe, J. B. [Auteur]
Borroni, B. [Auteur]
Finger, E. [Auteur]
Synofzik, M. [Auteur]
Galimberti, D. [Auteur]
Vandenberghe, R. [Auteur]
De Mendonça, A. [Auteur]
Butler, C. R. [Auteur]
Gerhard, A. [Auteur]
Ducharme, S. [Auteur]
Le Ber, I. [Auteur]
Tiraboschi, P. [Auteur]
Santana, I. [Auteur]
Pasquier, Florence [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Lille Neurosciences & Cognition (LilNCog) - U 1172
Levin, J. [Auteur]
Otto, M. [Auteur]
Sorbi, S. [Auteur]
Rohrer, J. D. [Auteur]
Russell, L. L. [Auteur]
UCL Institute of Neurology, Queen Square [London]
Titre de la revue :
Journal of Neurology
Nom court de la revue :
J Neurol
Numéro :
270
Pagination :
1466-1477
Éditeur :
Springer Link
Date de publication :
2022-11-17
ISSN :
1432-1459
Mot(s)-clé(s) :
Frontotemporal dementia
Genetics
Motor
Tau
Progranulin
C9orf72
Genetics
Motor
Tau
Progranulin
C9orf72
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Objective
To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD).
Methods
Eight hundred and thirty-two participants from the international multicentre ...
Lire la suite >Objective To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). Methods Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72, GRN and MAPT mutations) and 310 mutation-negative controls. A standardised clinical questionnaire was used to assess eight motor symptoms (dysarthria, dysphagia, tremor, slowness, weakness, gait disorder, falls and functional difficulties using hands). Frequency and severity of each motor symptom was assessed, and a principal component analysis (PCA) was performed to identify how the different motor symptoms loaded together. Finally, addition of a motor component to the CDR® plus NACC FTLD was investigated (CDR® plus NACC FTLD-M). Results 24.3% of mutation carriers had motor symptoms (31.7% C9orf72, 18.8% GRN, 19.3% MAPT) compared to 6.8% of controls. Slowness and gait disorder were the commonest in all genetic groups while tremor and falls were the least frequent. Symptom severity scores were similar to equivalent physical motor examination scores. PCA revealed that all motor symptoms loaded together so a single additional motor component was added to the CDR® plus NACC FTLD to form the CDR® plus NACC FTLD-M. Individual global scores were more severe with the CDR® plus NACC FTLD-M, and no patients with a clinically diagnosed motor disorder (ALS/FTD-ALS or parkinsonism) were classified anymore as asymptomatic (unlike the CDR® plus NACC FTLD alone). Conclusions Motor features are present in mutation carriers at all disease stages across all three genetic groups. Inclusion of motor symptoms in a rating scale that can be used in future clinical trials will not only ensure a more accurate severity measure is recorded but that a wider spectrum of FTD phenotypes can be included in the same trial.Lire moins >
Lire la suite >Objective To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). Methods Eight hundred and thirty-two participants from the international multicentre Genetic FTD Initiative (GENFI) study were recruited: 522 mutation carriers (with C9orf72, GRN and MAPT mutations) and 310 mutation-negative controls. A standardised clinical questionnaire was used to assess eight motor symptoms (dysarthria, dysphagia, tremor, slowness, weakness, gait disorder, falls and functional difficulties using hands). Frequency and severity of each motor symptom was assessed, and a principal component analysis (PCA) was performed to identify how the different motor symptoms loaded together. Finally, addition of a motor component to the CDR® plus NACC FTLD was investigated (CDR® plus NACC FTLD-M). Results 24.3% of mutation carriers had motor symptoms (31.7% C9orf72, 18.8% GRN, 19.3% MAPT) compared to 6.8% of controls. Slowness and gait disorder were the commonest in all genetic groups while tremor and falls were the least frequent. Symptom severity scores were similar to equivalent physical motor examination scores. PCA revealed that all motor symptoms loaded together so a single additional motor component was added to the CDR® plus NACC FTLD to form the CDR® plus NACC FTLD-M. Individual global scores were more severe with the CDR® plus NACC FTLD-M, and no patients with a clinically diagnosed motor disorder (ALS/FTD-ALS or parkinsonism) were classified anymore as asymptomatic (unlike the CDR® plus NACC FTLD alone). Conclusions Motor features are present in mutation carriers at all disease stages across all three genetic groups. Inclusion of motor symptoms in a rating scale that can be used in future clinical trials will not only ensure a more accurate severity measure is recorded but that a wider spectrum of FTD phenotypes can be included in the same trial.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Inserm
CHU Lille
Inserm
CHU Lille
Collections :
Date de dépôt :
2024-01-16T00:21:03Z
2024-07-10T08:22:42Z
2024-07-10T08:22:42Z
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