Motor symptoms in genetic frontotemporal ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.
Author(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]
Journal title :
Journal of Neurology
Abbreviated title :
J Neurol
Volume number :
270
Pages :
1466-1477
Publisher :
Springer Link
Publication date :
2022-11-17
ISSN :
1432-1459
Keyword(s) :
Frontotemporal dementia
Genetics
Motor
Tau
Progranulin
C9orf72
Genetics
Motor
Tau
Progranulin
C9orf72
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [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 ...
Show more >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.Show less >
Show more >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.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
Université de Lille
Inserm
CHU Lille
Inserm
CHU Lille
Collections :
Submission date :
2024-01-16T00:21:03Z
2024-07-10T08:22:42Z
2024-07-10T08:22:42Z
Annexes
- document
- Open access
- Source du fichier principal
- Access the document