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

Kiran Samra; Amy M Macdougall; Georgia Peakman; Arabella Bouzigues; Martina Bocchetta; David M Cash; Caroline V Greaves; Rhian S Convery; John C van Swieten; Lize Jiskoot; Harro Seelaar; Fermin Moreno; Raquel Sanchez-Valle; Robert Laforce; Caroline Graff; Mario Masellis; Carmela Tartaglia; James B Rowe; Barbara Borroni; Elizabeth Finger; Matthis Synofzik; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Chris R Butler; Alexander Gerhard; Simon Ducharme; Isabelle Le Ber; Pietro Tiraboschi; Isabel Santana; Florence Pasquier; Johannes Levin; Markus Otto; Sandro Sorbi; Jonathan D Rohrer; Lucy L Russell; Annabel Nelson; Martina Bocchetta; David M Cash; David L Thomas; Emily Todd; Hanya Benotmane; Jennifer Nicholas; Kiran Samra; Rachelle Shafei; Carolyn Timberlake; Thomas Cope; Timothy Rittman; Alberto Benussi; Enrico Premi; Roberto Gasparotti; Silvana Archetti; Stefano Gazzina; Valentina Cantoni; Andrea Arighi; Chiara Fenoglio; Giorgio Fumagalli; Vittoria Borracci; Giacomina Rossi; Giorgio Giaccone; Giuseppe Di Fede; Paola Caroppo; Pietro Tiraboschi; Sara Prioni; Veronica Redaelli; David Tang-Wai; Ekaterina Rogaeva; Miguel Castelo-Branco; Morris Freedman; Ron Keren; Sandra Black; Sara Mitchell; Christen Shoesmith; Robart Bartha; Rosa Rademakers; Jackie Poos; Janne M Papma; Lucia Giannini; Rick van Minkelen; Yolande Pijnenburg; Benedetta Nacmias; Camilla Ferrari; Cristina Polito; Gemma Lombardi; Valentina Bessi; Michele Veldsman; Christin Andersson; Hakan Thonberg; Linn Öijerstedt; Vesna Jelic; Paul Thompson; Tobias Langheinrich; Albert Lladó; Anna Antonell; Jaume Olives; Mircea Balasa; Nuria Bargalló; Sergi Borrego-Ecija; Ana Verdelho; Carolina Maruta; Catarina B Ferreira; Gabriel Miltenberger; Frederico Simões Do Couto; Alazne Gabilondo; Ana Gorostidi; Jorge Villanua; Marta Cañada; Mikel Tainta; Miren Zulaica; Myriam Barandiaran; Patricia Alves; Benjamin Bender; Carlo Wilke; Lisa Graf; Annick Vogels; Mathieu Vandenbulcke; Philip van Damme; Rose Bruffaerts; Koen Poesen; Pedro Rosa-Neto; Serge Gauthier; Agnès Camuzat; Alexis Brice; Anne Bertrand; Aurélie Funkiewiez; Daisy Rinaldi; Dario Saracino; Olivier Colliot; Sabrina Sayah; Catharina Prix; Elisabeth Wlasich; Olivia Wagemann; Sandra Loosli; Sonja Schönecker; Tobias Hoegen; Jolina Lombardi; Sarah Anderl-Straub; Adeline Rollin; Gregory Kuchcinski; Maxime Bertoux; Thibaud Lebouvier; Vincent Deramecourt; Beatriz Santiago; Diana Duro; Maria João Leitão; Maria Rosario Almeida; Miguel Tábuas-Pereira; Sónia Afonso

doi:10.1007/s00415-022-11442-y

Journal Articles Journal of Neurology Year : 2022

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

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Kiran Samra

Function : Author
PersonId : 1339604
ORCID : 0000-0002-3105-7099

Amy M Macdougall

Function : Author

Georgia Peakman

Function : Author

Arabella Bouzigues

Function : Author

Martina Bocchetta

Function : Author

David M Cash

Function : Author

Caroline V Greaves

Function : Author

Rhian S Convery

Function : Author

John C van Swieten

Function : Author

Lize Jiskoot

Function : Author

Harro Seelaar

Function : Author

Fermin Moreno

Function : Author

Raquel Sanchez-Valle

Function : Author

Robert Laforce

Function : Author

Caroline Graff

Function : Author

Mario Masellis

Function : Author

Carmela Tartaglia

Function : Author

James B Rowe

Function : Author

Barbara Borroni

Function : Author

Elizabeth Finger

Function : Author

Matthis Synofzik

Function : Author

Daniela Galimberti

Function : Author

Rik Vandenberghe

Function : Author

Alexandre de Mendonça

Function : Author

Chris R Butler

Function : Author

Alexander Gerhard

Function : Author

Simon Ducharme

Function : Author

Isabelle Le Ber

Function : Author

Institut du Cerveau = Paris Brain Institute

Pietro Tiraboschi

Function : Author

Isabel Santana

Function : Author

Florence Pasquier

Function : Author

Lille Neurosciences & Cognition - U 1172

Johannes Levin

Function : Author

Markus Otto

Function : Author

Sandro Sorbi

Function : Author

Jonathan D Rohrer

Function : Author

Lucy L Russell

Function : Author

Annabel Nelson

Function : Author

Martina Bocchetta

Function : Author

David M Cash

Function : Author

David L Thomas

Function : Author

Emily Todd

Function : Author

Hanya Benotmane

Function : Author

Jennifer Nicholas

Function : Author

Kiran Samra

Function : Author

Rachelle Shafei

Function : Author

Carolyn Timberlake

Function : Author

Thomas Cope

Function : Author

Timothy Rittman

Function : Author

Alberto Benussi

Function : Author

Enrico Premi

Function : Author

Roberto Gasparotti

Function : Author

Silvana Archetti

Function : Author

Stefano Gazzina

Function : Author

Valentina Cantoni

Function : Author

Andrea Arighi

Function : Author

Chiara Fenoglio

Function : Author

Giorgio Fumagalli

Function : Author

Vittoria Borracci

Function : Author

Giacomina Rossi

Function : Author

Giorgio Giaccone

Function : Author

Giuseppe Di Fede

Function : Author

Paola Caroppo

Function : Author

Pietro Tiraboschi

Function : Author

Sara Prioni

Function : Author

Veronica Redaelli

Function : Author

David Tang-Wai

Function : Author

Ekaterina Rogaeva

Function : Author

Miguel Castelo-Branco

Function : Author

Morris Freedman

Function : Author

Ron Keren

Function : Author

Sandra Black

Function : Author

Sara Mitchell

Function : Author

Christen Shoesmith

Function : Author

Robart Bartha

Function : Author

Rosa Rademakers

Function : Author

Jackie Poos

Function : Author

Janne M Papma

Function : Author

Lucia Giannini

Function : Author

Rick van Minkelen

Function : Author

Yolande Pijnenburg

Function : Author

Benedetta Nacmias

Function : Author

Camilla Ferrari

Function : Author

Cristina Polito

Function : Author

Gemma Lombardi

Function : Author

Valentina Bessi

Function : Author

Michele Veldsman

Function : Author

Christin Andersson

Function : Author

Hakan Thonberg

Function : Author

Linn Öijerstedt

Function : Author

Vesna Jelic

Function : Author

Paul Thompson

Function : Author

Tobias Langheinrich

Function : Author

Albert Lladó

Function : Author

Anna Antonell

Function : Author

Jaume Olives

Function : Author

Mircea Balasa

Function : Author

Nuria Bargalló

Function : Author

Sergi Borrego-Ecija

Function : Author

Ana Verdelho

Function : Author

Carolina Maruta

Function : Author

Catarina B Ferreira

Function : Author

Gabriel Miltenberger

Function : Author

Frederico Simões Do Couto

Function : Author

Alazne Gabilondo

Function : Author

Ana Gorostidi

Function : Author

Jorge Villanua

Function : Author

Marta Cañada

Function : Author

Mikel Tainta

Function : Author

Miren Zulaica

Function : Author

Myriam Barandiaran

Function : Author

Patricia Alves

Function : Author

Benjamin Bender

Function : Author

Carlo Wilke

Function : Author

Lisa Graf

Function : Author

Annick Vogels

Function : Author

Mathieu Vandenbulcke

Function : Author

Philip van Damme

Function : Author

Rose Bruffaerts

Function : Author

Koen Poesen

Function : Author

Pedro Rosa-Neto

Function : Author

Serge Gauthier

Function : Author

Agnès Camuzat

Function : Author

Alexis Brice

Function : Author
PersonId : 1104774
ORCID : 0000-0002-0941-3990
IdRef : 050512935

Anne Bertrand

Function : Author

Aurélie Funkiewiez

Function : Author

Daisy Rinaldi

Function : Author

Dario Saracino

Function : Author

Olivier Colliot

Function : Author

Sabrina Sayah

Function : Author

Catharina Prix

Function : Author

Elisabeth Wlasich

Function : Author

Olivia Wagemann

Function : Author

Sandra Loosli

Function : Author

Sonja Schönecker

Function : Author

Tobias Hoegen

Function : Author

Jolina Lombardi

Function : Author

Sarah Anderl-Straub

Function : Author

Adeline Rollin

Function : Author

Gregory Kuchcinski

Function : Author

Maxime Bertoux

Function : Author

Thibaud Lebouvier

Function : Author
PersonId : 754049
IdHAL : thibaud-lebouvier
ORCID : 0000-0002-6630-394X
IdRef : 177112190

Vincent Deramecourt

Function : Author

Beatriz Santiago

Function : Author

Diana Duro

Function : Author

Maria João Leitão

Function : Author

Maria Rosario Almeida

Function : Author

Miguel Tábuas-Pereira

Function : Author

Sónia Afonso

Function : Author

Abstract

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.

Keywords

Frontotemporal dementia Genetics Motor Tau Progranulin C9orf72 Frontotemporal dementia Genetics Motor Tau Progranulin C9orf72

Domains

Neurons and Cognition [q-bio.NC]

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s00415-022-11442-y.pdf (734.1 Ko)

Origin	Publication funded by an institution

Gestionnaire HAL 9 Sorbonne Université : Connect in order to contact the contributor

https://hal.sorbonne-universite.fr/hal-04410050

Submitted on : Monday, January 22, 2024-3:03:35 PM

Last modification on : Thursday, November 7, 2024-2:22:03 PM

Dates and versions

hal-04410050 , version 1 (22-01-2024)

Identifiers

HAL Id : hal-04410050 , version 1
DOI : 10.1007/s00415-022-11442-y
PUBMED : 36385202
PUBMEDCENTRAL : PMC9971048

Cite

Kiran Samra, Amy M Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, et al.. Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales. Journal of Neurology, 2022, 270 (3), pp.1466-1477. ⟨10.1007/s00415-022-11442-y⟩. ⟨hal-04410050⟩

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

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