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Journal Articles Nature Medicine Year : 2022

Temporal order of clinical and biomarker changes in familial frontotemporal dementia

Adam Staffaroni , Melanie Quintana , Barbara Wendelberger , Hilary Heuer , Lucy Russell , Yann Cobigo , Amy Wolf , Sheng-Yang Matt Goh , Leonard Petrucelli , Tania Gendron , Carolin Heller , Annie Clark , Jack Carson Taylor , Amy Wise , Elise Ong , Leah Forsberg , Danielle Brushaber , Julio Rojas , Lawren Vandevrede , Peter Ljubenkov , Joel Kramer , Kaitlin Casaletto , Brian Appleby , Yvette Bordelon , Hugo Botha , Bradford Dickerson , Kimiko Domoto-Reilly , Julie Fields , Tatiana Foroud , Ralitza Gavrilova , Daniel Geschwind , Nupur Ghoshal , Jill Goldman , Jonathon Graff-Radford , Neill Graff-Radford , Murray Grossman , Matthew Hall , Ging-Yuek Hsiung , Edward Huey , David Irwin , David Jones , Kejal Kantarci , Daniel Kaufer , David Knopman , Walter Kremers , Argentina Lario Lago , Maria Lapid , Maria Lapid , Irene Litvan , Diane Lucente , Ian Mackenzie , Mario Mendez , Mario Mendez , Carly Mester , Bruce Miller , Chiadi Onyike , Chiadi Onyike , Rosa Rademakers , Rosa Rademakers , Vijay Ramanan , Vijay Ramanan , Eliana Marisa Ramos , Meghana Rao , Katya Rascovsky , Katherine Rankin , Erik Roberson , Rodolfo Savica , M Carmela Tartaglia , Sandra Weintraub , Sandra Weintraub , Bonnie Wong , David Cash , Arabella Bouzigues , Imogen Swift , Georgia Peakman , Martina Bocchetta , Emily Todd , Rhian Convery , James Rowe , Barbara Borroni , Daniela Galimberti , Pietro Tiraboschi , Mario Masellis , Elizabeth Finger , John van Swieten , Harro Seelaar , Lize Jiskoot , Sandro Sorbi , Chris Butler , Caroline Graff , Alexander Gerhard , Tobias Langheinrich , Robert Laforce , Raquel Sanchez-Valle , Alexandre de Mendonça , Fermin Moreno , Matthis Synofzik , Rik Vandenberghe , Simon Ducharme , Isabelle Le Ber (1) , Johannes Levin , Adrian Danek , Markus Otto , Florence Pasquier , Isabel Santana , John Kornak , Bradley Boeve , Bradley Boeve , Howard Rosen , Jonathan Rohrer , Adam. Boxer , M. Carmela Tartaglia , Adam. Boxer , Liana Apostolova , Sami Barmada , Andrea Bozoki , David Clark , Giovanni Coppola , Ryan Darby , Dennis Dickson , Kelley Faber , Anne Fagan , Douglas Galasko , Ian Grant , Eric Huang , Diana Kerwin , Suzee Lee , Gabriel Leger , Joseph Masdeux , Scott Mcginnis , M. Belen Pascual , Peter Pressman , Aaron Ritter , William Seeley , Jeremy Syrjanen , Jack Taylor , Aitana Sogorb Esteve , Annabel Nelson , Caroline Greaves , David Thomas , Hanya Benotmane , Henrik Zetterberg , 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 , Elio Scarpini , Giorgio Fumagalli , Vittoria Borracci , Giacomina Rossi , Giorgio Giaccone , Giuseppe Di Fede , Paola Caroppo , Sara Prioni , Veronica Redaelli , David Tang-Wai , Ekaterina Rogaeva , Miguel Castelo-Branco , Morris Freedman , Ron Keren , Sandra Black , Sara Mitchell , Christen Shoesmith , Robart Bartha , Jackie Poos , Janne 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 , Albert Lladó , Anna Antonell , Jaume Olives , Mircea Balasa , Nuria Bargalló , Sergi Borrego-Ecija , Ana Verdelho , Carolina Maruta , Catarina 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
Adam Staffaroni
Melanie Quintana
Barbara Wendelberger
Hilary Heuer
  • Function : Author
Lucy Russell
Yann Cobigo
Amy Wolf
  • Function : Author
Sheng-Yang Matt Goh
  • Function : Author
Leonard Petrucelli
  • Function : Author
Tania Gendron
Carolin Heller
Annie Clark
  • Function : Author
Jack Carson Taylor
Amy Wise
  • Function : Author
Elise Ong
  • Function : Author
Leah Forsberg
  • Function : Author
Danielle Brushaber
  • Function : Author
Julio Rojas
  • Function : Author
Lawren Vandevrede
Peter Ljubenkov
  • Function : Author
Joel Kramer
  • Function : Author
Kaitlin Casaletto
  • Function : Author
Brian Appleby
  • Function : Author
Yvette Bordelon
  • Function : Author
Hugo Botha
Bradford Dickerson
  • Function : Author
Kimiko Domoto-Reilly
Julie Fields
  • Function : Author
Tatiana Foroud
Ralitza Gavrilova
  • Function : Author
Daniel Geschwind
Nupur Ghoshal
Jill Goldman
  • Function : Author
Jonathon Graff-Radford
  • Function : Author
Neill Graff-Radford
  • Function : Author
Murray Grossman
  • Function : Author
Matthew Hall
  • Function : Author
Ging-Yuek Hsiung
Edward Huey
  • Function : Author
David Irwin
  • Function : Author
David Jones
Kejal Kantarci
  • Function : Author
Daniel Kaufer
  • Function : Author
David Knopman
Walter Kremers
  • Function : Author
Argentina Lario Lago
  • Function : Author
Maria Lapid
Maria Lapid
  • Function : Author
Irene Litvan
Diane Lucente
  • Function : Author
Ian Mackenzie
  • Function : Author
Mario Mendez
Mario Mendez
  • Function : Author
Carly Mester
  • Function : Author
Bruce Miller
  • Function : Author
Chiadi Onyike
  • Function : Author
Chiadi Onyike
  • Function : Author
Rosa Rademakers
Rosa Rademakers
  • Function : Author
Vijay Ramanan
Vijay Ramanan
  • Function : Author
Eliana Marisa Ramos
  • Function : Author
Meghana Rao
  • Function : Author
Katya Rascovsky
  • Function : Author
Katherine Rankin
  • Function : Author
Erik Roberson
Rodolfo Savica
  • Function : Author
M Carmela Tartaglia
  • Function : Author
Sandra Weintraub
  • Function : Author
Sandra Weintraub
  • Function : Author
Bonnie Wong
  • Function : Author
David Cash
Arabella Bouzigues
Imogen Swift
  • Function : Author
Georgia Peakman
Martina Bocchetta
Emily Todd
  • Function : Author
Rhian Convery
  • Function : Author
James Rowe
Barbara Borroni
  • Function : Author
Daniela Galimberti
Pietro Tiraboschi
  • Function : Author
Mario Masellis
  • Function : Author
Elizabeth Finger
  • Function : Author
John van Swieten
  • Function : Author
Harro Seelaar
Lize Jiskoot
  • Function : Author
Sandro Sorbi
Chris Butler
  • Function : Author
Caroline Graff
  • Function : Author
Alexander Gerhard
Tobias Langheinrich
Robert Laforce
Raquel Sanchez-Valle
Alexandre de Mendonça
  • Function : Author
Fermin Moreno
  • Function : Author
Matthis Synofzik
  • Function : Author
Rik Vandenberghe
  • Function : Author
Simon Ducharme
  • Function : Author
Johannes Levin
  • Function : Author
Adrian Danek
Markus Otto
  • Function : Author
Florence Pasquier
Isabel Santana
  • Function : Author
John Kornak
  • Function : Author
Bradley Boeve
Bradley Boeve
  • Function : Author
Howard Rosen
  • Function : Author
Jonathan Rohrer
  • Function : Author
Adam. Boxer
M. Carmela Tartaglia
Adam. Boxer
  • Function : Author
Liana Apostolova
  • Function : Author
Sami Barmada
  • Function : Author
Andrea Bozoki
  • Function : Author
David Clark
  • Function : Author
Giovanni Coppola
  • Function : Author
Ryan Darby
  • Function : Author
Dennis Dickson
  • Function : Author
Kelley Faber
  • Function : Author
Anne Fagan
  • Function : Author
Douglas Galasko
  • Function : Author
Ian Grant
  • Function : Author
Eric Huang
  • Function : Author
Diana Kerwin
  • Function : Author
Suzee Lee
  • Function : Author
Gabriel Leger
  • Function : Author
Joseph Masdeux
  • Function : Author
Scott Mcginnis
  • Function : Author
M. Belen Pascual
  • Function : Author
Peter Pressman
  • Function : Author
Aaron Ritter
  • Function : Author
William Seeley
  • Function : Author
Jeremy Syrjanen
  • Function : Author
Jack Taylor
  • Function : Author
Aitana Sogorb Esteve
  • Function : Author
Annabel Nelson
  • Function : Author
Caroline Greaves
  • Function : Author
David Thomas
  • Function : Author
Hanya Benotmane
  • Function : Author
Henrik Zetterberg
  • 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
Elio Scarpini
  • 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
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
Jackie Poos
  • Function : Author
Janne 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
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 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
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
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

Unlike familial Alzheimer's disease, we have been unable to accurately predict symptom onset in presymptomatic familial frontotemporal dementia (f-FTD) mutation carriers, which is a major hurdle to designing disease prevention trials. We developed multimodal models for f-FTD disease progression and estimated clinical trial sample sizes in C9orf72, GRN and MAPT mutation carriers. Models included longitudinal clinical and neuropsychological scores, regional brain volumes and plasma neurofilament light chain (NfL) in 796 carriers and 412 noncarrier controls. We found that the temporal ordering of clinical and biomarker progression differed by genotype. In prevention-trial simulations using model-based patient selection, atrophy and NfL were the best endpoints, whereas clinical measures were potential endpoints in early symptomatic trials. f-FTD prevention trials are feasible but will likely require global recruitment efforts. These disease progression models will facilitate the planning of f-FTD clinical trials, including the selection of optimal endpoints and enrollment criteria to maximize power to detect treatment effects.

Dates and versions

hal-04575565 , version 1 (15-05-2024)

Identifiers

Cite

Adam Staffaroni, Melanie Quintana, Barbara Wendelberger, Hilary Heuer, Lucy Russell, et al.. Temporal order of clinical and biomarker changes in familial frontotemporal dementia. Nature Medicine, 2022, 28 (10), pp.2194-2206. ⟨10.1038/s41591-022-01942-9⟩. ⟨hal-04575565⟩
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