Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.

Humans Frontotemporal Dementia / diagnosis Amyotrophic Lateral Sclerosis C9orf72 Protein / genetics Tremor Mutation tau Proteins / genetics
C9orf72 Frontotemporal dementia Genetics Motor Progranulin Tau

Journal

Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161

Informations de publication

Date de publication:
Mar 2023
Historique:
received: 07 09 2022
accepted: 19 10 2022
revised: 17 10 2022
pubmed: 18 11 2022
medline: 3 3 2023
entrez: 17 11 2022
Statut: ppublish

Résumé

To investigate the optimal method of adding motor features to a clinical rating scale for frontotemporal dementia (FTD). 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 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 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.

Identifiants

DOI: 10.1007/s00415-022-11442-y PMID: 36385202 PMC: PMC9971048
pubmed: 36385202
doi: 10.1007/s00415-022-11442-y
pii: 10.1007/s00415-022-11442-y
pmc: PMC9971048
doi:

Substances chimiques

C9orf72 Protein 0
tau Proteins 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

1466-1477

Subventions

Organisme : JPND Prefrontals
ID : 2015-02926
Organisme : CIHR
ID : 327387
Organisme : JPND GENFI-PROX
ID : 2019-02248
Organisme : National Brain Appeal
ID : RCN 290173
Organisme : Dioraphte Foundation
ID : 09-02-03-00
Organisme : Medical Research Council
ID : MR/M008525/1
Pays : United Kingdom
Organisme : Deutsche Forschungsgemeinschaft
ID : 390857198
Organisme : Medical Research Council
ID : SUAG/051 G101400
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/K010395/1
Pays : United Kingdom
Organisme : PreFrontALS
ID : 733051042
Organisme : The Association for Frontotemporal Dementia Research
ID : 2009
Organisme : NWO
ID : HCMI 056-13-018
Organisme : Fundació la Marató de TV3
ID : 20143810
Organisme : European Reference Network for Rare Neurological Diseases
ID : 739510
Organisme : UK Dementia Research Institute
ID : SM-UCLO-MA-0519
Organisme : National Institute for Health and Care Research
ID : BRC149/NS/MH
Organisme : Alzheimer's Society UK
ID : AS-JF-19a-004-517
Organisme : National Institute for Health and Care Research
ID : BRC-1215-20014
Organisme : Medical Research Council
ID : MR/M023664/1
Pays : United Kingdom
Organisme : Instituto de Salud Carlos III
ID : PI20/00448
Organisme : Alzheimer's Research Trust
ID : ARUK-CRF2017B-2
Organisme : Medical Research Council
ID : MR/T046015/1
Pays : United Kingdom
Organisme : Deltaplan Dementie
ID : 733 051 042
Organisme : Wellcome Trust
ID : 103838
Pays : United Kingdom
Organisme : JPND Prefrontals
ID : 2018-02754

Investigateurs

Annabel Nelson (A)
Martina Bocchetta (M)
David Cash (D)
David L Thomas (DL)
Emily Todd (E)
Hanya Benotmane (H)
Jennifer Nicholas (J)
Kiran Samra (K)
Rachelle Shafei (R)
Carolyn Timberlake (C)
Thomas Cope (T)
Timothy Rittman (T)
Alberto Benussi (A)
Enrico Premi (E)
Roberto Gasparotti (R)
Silvana Archetti (S)
Stefano Gazzina (S)
Valentina Cantoni (V)
Andrea Arighi (A)
Chiara Fenoglio (C)
Giorgio Fumagalli (G)
Vittoria Borracci (V)
Giacomina Rossi (G)
Giorgio Giaccone (G)
Giuseppe Di Fede (G)
Paola Caroppo (P)
Pietro Tiraboschi (P)
Sara Prioni (S)
Veronica Redaelli (V)
David Tang-Wai (D)
Ekaterina Rogaeva (E)
Miguel Castelo-Branco (M)
Morris Freedman (M)
Ron Keren (R)
Sandra Black (S)
Sara Mitchell (S)
Christen Shoesmith (C)
Robart Bartha (R)
Rosa Rademakers (R)
Jackie Poos (J)
Janne M Papma (JM)
Lucia Giannini (L)
Rick van Minkelen (R)
Yolande Pijnenburg (Y)
Benedetta Nacmias (B)
Camilla Ferrari (C)
Cristina Polito (C)
Gemma Lombardi (G)
Valentina Bessi (V)
Michele Veldsman (M)
Christin Andersson (C)
Hakan Thonberg (H)
Linn Öijerstedt (L)
Vesna Jelic (V)
Paul Thompson (P)
Tobias Langheinrich (T)
Albert Lladó (A)
Anna Antonell (A)
Jaume Olives (J)
Mircea Balasa (M)
Nuria Bargalló (N)
Sergi Borrego-Ecija (S)
Ana Verdelho (A)
Carolina Maruta (C)
Catarina B Ferreira (CB)
Gabriel Miltenberger (G)
Frederico Simões do Couto (FS)
Alazne Gabilondo (A)
Ana Gorostidi (A)
Jorge Villanua (J)
Marta Cañada (M)
Mikel Tainta (M)
Miren Zulaica (M)
Myriam Barandiaran (M)
Patricia Alves (P)
Benjamin Bender (B)
Carlo Wilke (C)
Lisa Graf (L)
Annick Vogels (A)
Mathieu Vandenbulcke (M)
Philip Van Damme (P)
Rose Bruffaerts (R)
Koen Poesen (K)
Pedro Rosa-Neto (P)
Serge Gauthier (S)
Agnès Camuzat (A)
Alexis Brice (A)
Anne Bertrand (A)
Aurélie Funkiewiez (A)
Daisy Rinaldi (D)
Dario Saracino (D)
Olivier Colliot (O)
Sabrina Sayah (S)
Catharina Prix (C)
Elisabeth Wlasich (E)
Olivia Wagemann (O)
Sandra Loosli (S)
Sonja Schönecker (S)
Tobias Hoegen (T)
Jolina Lombardi (J)
Sarah Anderl-Straub (S)
Adeline Rollin (A)
Gregory Kuchcinski (G)
Maxime Bertoux (M)
Thibaud Lebouvier (T)
Vincent Deramecourt (V)
Beatriz Santiago (B)
Diana Duro (D)
Maria João Leitão (MJ)
Maria Rosario Almeida (MR)
Miguel Tábuas-Pereira (M)
Sónia Afonso (S)

Informations de copyright

© 2022. Crown.

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Auteurs

Kiran Samra (K)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK. k.samra@ucl.ac.uk.
ORCID: 0000-0002-3105-7099

Amy M MacDougall (AM)

Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK.

Georgia Peakman (G)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Arabella Bouzigues (A)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Martina Bocchetta (M)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

David M Cash (DM)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Caroline V Greaves (CV)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Rhian S Convery (RS)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

John C van Swieten (JC)

Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.

Lize Jiskoot (L)

Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.

Harro Seelaar (H)

Department of Neurology, Erasmus Medical Centre, Rotterdam, Netherlands.

Fermin Moreno (F)

Cognitive Disorders Unit, Department of Neurology, Donostia Universitary Hospital, San Sebastian, Spain.
Neuroscience Area, Biodonostia Health Research Institute, Gipuzkoa, San Sebastian, Spain.

Raquel Sanchez-Valle (R)

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacións Biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain.

Robert Laforce (R)

Clinique Interdisciplinaire de Mémoire, Département des Sciences Neurologiques, CHU de Québec, and Faculté de Médecine, Université Laval, Quebec City, Quebec, Canada.

Caroline Graff (C)

Center for Alzheimer Research, Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Bioclinicum, Karolinska Institutet, Solna, Sweden.
Unit for Hereditary Dementias, Theme Aging, Karolinska University Hospital, Solna, Sweden.

Mario Masellis (M)

Sunnybrook Health Sciences Centre, Sunnybrook Research Institute, University of Toronto, Toronto, Canada.

Carmela Tartaglia (C)

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, ON, Canada.

James B Rowe (JB)

Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.

Barbara Borroni (B)

Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

Elizabeth Finger (E)

Department of Clinical Neurological Sciences, University of Western Ontario, London, ON, Canada.

Matthis Synofzik (M)

Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.

Daniela Galimberti (D)

Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
University of Milan, Centro Dino Ferrari, Milan, Italy.

Rik Vandenberghe (R)

Laboratory for Cognitive Neurology, Department of Neurosciences, KU Leuven, Leuven, Belgium.
Neurology Service, University Hospitals Leuven, Leuven, Belgium.
Leuven Brain Institute, KU Leuven, Leuven, Belgium.

Alexandre de Mendonça (A)

Laboratory of Neurosciences, Institute of Molecular Medicine, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

Chris R Butler (CR)

Nuffield Department of Clinical Neurosciences, Medical Sciences Division, University of Oxford, Oxford, UK.
Department of Brain Sciences, Imperial College London, London, UK.

Alexander Gerhard (A)

Division of Neuroscience and Experimental Psychology, Wolfson Molecular Imaging Centre, University of Manchester, Manchester, UK.
Departments of Geriatric Medicine and Nuclear Medicine, University of Duisburg-Essen, Essen, Germany.

Simon Ducharme (S)

Department of Psychiatry, McGill University Health Centre, McGill University, Montreal, QC, Canada.
McConnell Brain Imaging Centre, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.

Isabelle Le Ber (I)

Paris Brain Institute-Institut du Cerveau-ICM, Inserm U1127, CNRS UMR 7225, AP-HP-Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France.
Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP-Hôpital Pitié-Salpêtrière, Paris, France.
Département de Neurologie, AP-HP-Hôpital Pitié-Salpêtrière, Paris, France.
Reference Network for Rare Neurological Diseases (ERN-RND), Paris, France.

Pietro Tiraboschi (P)

Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Isabel Santana (I)

Neurology Service, Faculty of Medicine, University Hospital of Coimbra (HUC), University of Coimbra, Coimbra, Portugal.
Center for Neuroscience and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

Florence Pasquier (F)

Univ Lille, Lille, France.
Inserm 1172, Lille, France.
CHU, CNR-MAJ, Labex DistalzLiCEND Lille, Lille, France.

Johannes Levin (J)

Department of Neurology, Ludwig-Maximilians Universität München, Munich, Germany.
German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
Munich Cluster of Systems Neurology (SyNergy), Munich, Germany.

Markus Otto (M)

Department of Neurology, University of Ulm, Ulm, Germany.

Sandro Sorbi (S)

Department of Neurofarba, University of Florence, Florence, Italy.
IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy.

Jonathan D Rohrer (JD)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

Lucy L Russell (LL)

Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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Classifications MeSH

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Recherchemedicale.com › Troubles mentaux › Troubles neurocognitifs › Démence › Dégénérescence lobaire frontotemporale › Démence frontotemporale › Motor symptoms in genetic frontotemporal...
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Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Facteurs d'échange de nucléotides guanyliques › Protéine C9orf72 › Motor symptoms in genetic frontotemporal...
Recherchemedicale.com › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Dyskinésies › Tremblement › Motor symptoms in genetic frontotemporal...
Recherchemedicale.com › Phénomènes génétiques › Variation génétique › Mutation › Motor symptoms in genetic frontotemporal...
Recherchemedicale.com › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines associées aux microtubules › Protéines tau › Motor symptoms in genetic frontotemporal...