Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort.


Journal

Journal of neurology, neurosurgery, and psychiatry
ISSN: 1468-330X
Titre abrégé: J Neurol Neurosurg Psychiatry
Pays: England
ID NLM: 2985191R

Informations de publication

Date de publication:
02 2022
Historique:
received: 13 04 2021
accepted: 30 06 2021
pubmed: 7 8 2021
medline: 17 2 2022
entrez: 6 8 2021
Statut: ppublish

Résumé

Therapeutic trials are now underway in genetic forms of frontotemporal dementia (FTD) but clinical outcome measures are limited. The two most commonly used measures, the Clinical Dementia Rating (CDR)+National Alzheimer's Disease Coordinating Center (NACC) Frontotemporal Lobar Degeneration (FTLD) and the FTD Rating Scale (FRS), have yet to be compared in detail in the genetic forms of FTD. The CDR+NACC FTLD and FRS were assessed cross-sectionally in 725 consecutively recruited participants from the Genetic FTD Initiative: 457 mutation carriers (77 microtubule-associated protein tau ( Cross-sectionally, the mean FRS score was lower in all genetic groups compared with controls: Both the FRS and CDR+NACC FTLD measure disease severity in genetic FTD mutation carriers throughout the timeline of their disease, although the FRS may be preferable as an outcome measure. However, neither address a number of key symptoms in the FTD spectrum, for example, motor and neuropsychiatric deficits, which future scales will need to incorporate.

Sections du résumé

BACKGROUND
Therapeutic trials are now underway in genetic forms of frontotemporal dementia (FTD) but clinical outcome measures are limited. The two most commonly used measures, the Clinical Dementia Rating (CDR)+National Alzheimer's Disease Coordinating Center (NACC) Frontotemporal Lobar Degeneration (FTLD) and the FTD Rating Scale (FRS), have yet to be compared in detail in the genetic forms of FTD.
METHODS
The CDR+NACC FTLD and FRS were assessed cross-sectionally in 725 consecutively recruited participants from the Genetic FTD Initiative: 457 mutation carriers (77 microtubule-associated protein tau (
RESULTS
Cross-sectionally, the mean FRS score was lower in all genetic groups compared with controls:
CONCLUSIONS
Both the FRS and CDR+NACC FTLD measure disease severity in genetic FTD mutation carriers throughout the timeline of their disease, although the FRS may be preferable as an outcome measure. However, neither address a number of key symptoms in the FTD spectrum, for example, motor and neuropsychiatric deficits, which future scales will need to incorporate.

Identifiants

pubmed: 34353857
pii: jnnp-2021-326868
doi: 10.1136/jnnp-2021-326868
pmc: PMC8785074
doi:

Substances chimiques

C9orf72 Protein 0
MAPT protein, human 0
tau Proteins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

158-168

Subventions

Organisme : NIA NIH HHS
ID : U24 AG072122
Pays : United States
Organisme : Medical Research Council
ID : MR/M008525/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M023664/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T046015/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/J009482/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00024/1
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : U01 AG016976
Pays : United States

Investigateurs

Sónia Afonso (S)
Maria Rosario Almeida (MR)
Sarah Anderl-Straub (S)
Christin Andersson (C)
Anna Antonell (A)
Silvana Archetti (S)
Andrea Arighi (A)
Mircea Balasa (M)
Myriam Barandiaran (M)
Nuria Bargalló (N)
Robart Bartha (R)
Benjamin Bender (B)
Alberto Benussi (A)
Maxime Bertoux (M)
Anne Bertrand (A)
Valentina Bessi (V)
Sandra Black (S)
Martina Bocchetta (M)
Sergi Borrego-Ecija (S)
Jose Bras (J)
Alexis Brice (A)
Rose Bruffaerts (R)
Agnès Camuzat (A)
Marta Cañada (M)
Valentina Cantoni (V)
Paola Caroppo (P)
David Cash (D)
Miguel Castelo-Branco (M)
Olivier Colliot (O)
Thomas Cope (T)
Vincent Deramecourt (V)
María de Arriba (M)
Giuseppe Di Fede (GD)
Alina Díez (A)
Diana Duro (D)
Chiara Fenoglio (C)
Camilla Ferrari (C)
Catarina B Ferreira (CB)
Nick Fox (N)
Morris Freedman (M)
Giorgio Fumagalli (G)
Aurélie Funkiewiez (A)
Alazne Gabilondo (A)
Roberto Gasparotti (R)
Serge Gauthier (S)
Stefano Gazzina (S)
Giorgio Giaccone (G)
Ana Gorostidi (A)
Caroline Greaves (C)
Rita Guerreiro (R)
Carolin Heller (C)
Tobias Hoegen (T)
Begoña Indakoetxea (B)
Vesna Jelic (V)
Hans-Otto Karnath (HO)
Ron Keren (R)
Tobias Langheinrich (T)
Thibaud Lebouvier (T)
Maria João Leitão (MJ)
Albert Lladó (A)
Gemma Lombardi (G)
Sandra Loosli (S)
Carolina Maruta (C)
Simon Mead (S)
Lieke Meeter (L)
Gabriel Miltenberger (G)
Rick van Minkelen (RV)
Sara Mitchell (S)
Katrina Moore (K)
Benedetta Nacmias (B)
Annabel Nelson (A)
Linn Öijerstedt (L)
Jaume Olives (J)
Sebastien Ourselin (S)
Alessandro Padovani (A)
Jessica Panman (J)
Janne M Papma (JM)
Yolande Pijnenburg (Y)
Cristina Polito (C)
Enrico Premi (E)
Sara Prioni (S)
Catharina Prix (C)
Rosa Rademakers (R)
Veronica Redaelli (V)
Daisy Rinaldi (D)
Tim Rittman (T)
Ekaterina Rogaeva (E)
Adeline Rollin (A)
Pedro Rosa-Neto (P)
Giacomina Rossi (G)
Martin Rossor (M)
Beatriz Santiago (B)
Dario Saracino (D)
Sabrina Sayah (S)
Elio Scarpini (E)
Sonja Schönecker (S)
Harro Seelaar (H)
Elisa Semler (E)
Rachelle Shafei (R)
Christen Shoesmith (C)
Imogen Swift (I)
Miguel Tábuas-Pereira (M)
Mikel Tainta (M)
Ricardo Taipa (R)
David Tang-Wai (D)
David L Thomas (DL)
Paul Thompson (P)
Hakan Thonberg (H)
Carolyn Timberlake (C)
Pietro Tiraboschi (P)
Emily Todd (E)
Philip Van Damme (PV)
Mathieu Vandenbulcke (M)
Michele Veldsman (M)
Ana Verdelho (A)
Jorge Villanua (J)
Jason Warren (J)
Carlo Wilke (C)
Ione Woollacott (I)
Elisabeth Wlasich (E)
Henrik Zetterberg (H)
Miren Zulaica (M)

Informations de copyright

© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

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Auteurs

Georgia Peakman (G)

Department of Neurodegenerative Disease, University College London Dementia Research Centre, London, UK.

Lucy L Russell (LL)

Department of Neurodegenerative Disease, University College London Dementia Research Centre, London, UK.

Rhian S Convery (RS)

Department of Neurodegenerative Disease, University College London Dementia Research Centre, London, UK.

Jennifer M Nicholas (JM)

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

John C Van Swieten (JC)

Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.

Lize C Jiskoot (LC)

Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.

Fermin Moreno (F)

Cognitive Disorders Unit, Department of Neurology, Hospital Universitario de Donostia, San Sebastian, Spain.
Neuroscience Area, Biodonostia Health Research Institute, Donostia-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, Laval University, Quebec, Quebec, Canada.

Caroline Graff (C)

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

Mario Masellis (M)

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

Maria Carmela Tartaglia (MC)

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, 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)

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

Matthis Synofzik (M)

Dept. of Neurodegenerative Diseases, Eberhard Karls University Tubingen Hertie Institute for Clinical Brain Research, Tubingen, Germany.
Center for Neurodegenerative Diseases, DZNE, Tübingen, Germany.

Daniela Galimberti (D)

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

Rik Vandenberghe (R)

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

Alexandre de Mendonça (A)

Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

Chris R Butler (CR)

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

Alex Gerhard (A)

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

Simon Ducharme (S)

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

Isabelle Le Ber (I)

Sorbonne Université, Paris Brain Institute - Institut du Cerveau - ICM, Inserm U1127, CNRS UMR 7225, Hôpital Universitaire Pitié Salpêtrière, Paris, France.
Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, Hôpital Universitaire Pitié Salpêtrière, Paris, France.
Départment de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France.

Fabrizio Tagliavini (F)

Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.

Isabel Santana (I)

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

Florence Pasquier (F)

University of Lille, Lille, France.
CNR-MAJ, Labex Distalz, LiCEND Lille, CHU Lille, Lille, France.
Inserm 1172, Lille, France.

Johannes Levin (J)

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

Adrian Danek (A)

Department of Neurology, Ludwig-Maximilians-Universität München, Munchen, Germany.

Markus Otto (M)

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

Sandro Sorbi (S)

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

Jonathan D Rohrer (JD)

Department of Neurodegenerative Disease, University College London Dementia Research Centre, London, UK j.rohrer@ucl.ac.uk.

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