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Journal Articles Neurobiology of Aging Year : 2022

Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia

Stefano Gazzina , Mario Grassi , Enrico Premi , Antonella Alberici , Alberto Benussi , Silvana Archetti , Roberto Gasparotti , Martina Bocchetta , David Cash , Emily Todd , Georgia Peakman , Rhian Convery , John van Swieten , Lize Jiskoot , Harro Seelaar , Raquel Sanchez-Valle , Fermin Moreno , Robert Laforce , Caroline Graff , Matthis Synofzik , Daniela Galimberti , James Rowe , Mario Masellis , Maria Carmela Tartaglia , Elizabeth Finger , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Chris Butler , Isabel Santana , Alexander Gerhard , Isabelle Le Ber (1) , Florence Pasquier , Simon Ducharme , Johannes Levin , Adrian Danek , Sandro Sorbi , Markus Otto , Jonathan Rohrer , Barbara Borroni , Sónia Afonso , Maria Rosario Almeida , Christin Andersson , Anna Antonell , Andrea Arighi , Mircea Balasa , Myriam Barandiaran , Nuria Bargalló , Robart Bartha , Benjamin Bender , Maxime Bertoux , Anne Bertrand , Valentina Bessi , Sandra Black , Sergi Borrego-Ecija , Arabella Bouzigues , Jose Bras , Alexis Brice , Rose Bruffaerts , Agnès Camuzat , Marta Cañada , Valentina Cantoni , Paola Caroppo , Miguel Castelo-Branco , Olivier Colliot , Thomas Cope , Vincent Deramecourt , Giuseppe Di Fede , Alina Díez , Diana Duro , Chiara Fenoglio , Camilla Ferrari , Catarina Ferreira , Nick Fox , Morris Freedman , Giorgio Fumagalli , Aurélie Funkiewiez , Alazne Gabilondo , Serge Gauthier , Giorgio Giaccone , Ana Gorostidi , Caroline Greaves , Rita Guerreiro , Carolin Heller , Tobias Hoegen , Begoña Indakoetxea , Vesna Jelic , Hans-Otto Karnath , Ron Keren , Gregory Kuchcinski , Tobias Langheinrich , Thibaud Lebouvier , Maria João Leitão , Albert Lladó , Gemma Lombardi , Jolina Lombardi , Sandra Loosli , Carolina Maruta , Simon Mead , Lieke Meeter , Gabriel Miltenberger , Rick van Minkelen , Sara Mitchell , Katrina Moore , Benedetta Nacmias , Annabel Nelson , Jennifer Nicholas , Linn Öijerstedt , Jaume Olives , Sebastien Ourselin , Jessica Panman , Janne Papma , Yolande Pijnenburg , Cristina Polito , Sara Prioni , Catharina Prix , Rosa Rademakers , Veronica Redaelli , Daisy Rinaldi , Tim Rittman , Ekaterina Rogaeva , Adeline Rollin , Pedro Rosa-Neto , Giacomina Rossi , Martin Rossor , Beatriz Santiago , Dario Saracino , Sabrina Sayah , Elio Scarpini , Sonja Schönecker , Rachelle Shafei , Christen Shoesmith , Imogen Swift , Miguel Tábuas-Pereira , Mikel Tainta , Ricardo Taipa , David Tang-Wai , David Thomas , Paul Thompson , Hakan Thonberg , Carolyn Timberlake , Pietro Tiraboschi , Philip van Damme , Mathieu Vandenbulcke , Michele Veldsman , Ana Verdelho , Jorge Villanua , Jason Warren , Carlo Wilke , Ione Woollacott , Elisabeth Wlasich , Henrik Zetterberg , Miren Zulaica
Stefano Gazzina
  • Function : Author
Mario Grassi
  • Function : Author
Enrico Premi
Antonella Alberici
  • Function : Author
Alberto Benussi
  • Function : Author
Silvana Archetti
  • Function : Author
Roberto Gasparotti
  • Function : Author
Martina Bocchetta
David Cash
  • Function : Author
Emily Todd
Georgia Peakman
Rhian Convery
  • Function : Author
John van Swieten
  • Function : Author
Lize Jiskoot
  • Function : Author
Harro Seelaar
  • Function : Author
Raquel Sanchez-Valle
  • Function : Author
Fermin Moreno
  • Function : Author
Robert Laforce
  • Function : Author
Caroline Graff
  • Function : Author
Matthis Synofzik
Daniela Galimberti
James Rowe
  • Function : Author
Mario Masellis
  • Function : Author
Maria Carmela Tartaglia
Elizabeth Finger
  • Function : Author
Rik Vandenberghe
  • Function : Author
Alexandre de Mendonça
Fabrizio Tagliavini
  • Function : Author
Chris Butler
Isabel Santana
  • Function : Author
Alexander Gerhard
  • Function : Author
Florence Pasquier
  • Function : Author
Simon Ducharme
Johannes Levin
Adrian Danek
  • Function : Author
Sandro Sorbi
  • Function : Author
Markus Otto
  • Function : Author
Jonathan Rohrer
  • Function : Author
Barbara Borroni
  • Function : Author
Sónia Afonso
  • Function : Author
Maria Rosario Almeida
  • Function : Author
Christin Andersson
  • Function : Author
Anna Antonell
  • Function : Author
Andrea Arighi
  • Function : Author
Mircea Balasa
  • Function : Author
Myriam Barandiaran
  • Function : Author
Nuria Bargalló
  • Function : Author
Robart Bartha
  • Function : Author
Benjamin Bender
  • Function : Author
Maxime Bertoux
  • Function : Author
Anne Bertrand
  • Function : Author
Valentina Bessi
  • Function : Author
Sandra Black
  • Function : Author
Sergi Borrego-Ecija
  • Function : Author
Arabella Bouzigues
  • Function : Author
Jose Bras
  • Function : Author
Alexis Brice
  • Function : Author
Rose Bruffaerts
  • Function : Author
Agnès Camuzat
  • Function : Author
Marta Cañada
  • Function : Author
Valentina Cantoni
  • Function : Author
Paola Caroppo
  • Function : Author
Miguel Castelo-Branco
  • Function : Author
Olivier Colliot
  • Function : Author
Thomas Cope
  • Function : Author
Vincent Deramecourt
  • Function : Author
Giuseppe Di Fede
  • Function : Author
Alina Díez
  • Function : Author
Diana Duro
  • Function : Author
Chiara Fenoglio
  • Function : Author
Camilla Ferrari
  • Function : Author
Catarina Ferreira
  • Function : Author
Nick Fox
  • Function : Author
Morris Freedman
  • Function : Author
Giorgio Fumagalli
  • Function : Author
Aurélie Funkiewiez
  • Function : Author
Alazne Gabilondo
  • Function : Author
Serge Gauthier
  • Function : Author
Giorgio Giaccone
  • Function : Author
Ana Gorostidi
  • Function : Author
Caroline Greaves
  • Function : Author
Rita Guerreiro
  • Function : Author
Carolin Heller
  • Function : Author
Tobias Hoegen
  • Function : Author
Begoña Indakoetxea
  • Function : Author
Vesna Jelic
  • Function : Author
Hans-Otto Karnath
  • Function : Author
Ron Keren
  • Function : Author
Gregory Kuchcinski
  • Function : Author
Tobias Langheinrich
  • Function : Author
Thibaud Lebouvier
  • Function : Author
Maria João Leitão
  • Function : Author
Albert Lladó
  • Function : Author
Gemma Lombardi
  • Function : Author
Jolina Lombardi
  • Function : Author
Sandra Loosli
  • Function : Author
Carolina Maruta
  • Function : Author
Simon Mead
  • Function : Author
Lieke Meeter
  • Function : Author
Gabriel Miltenberger
  • Function : Author
Rick van Minkelen
  • Function : Author
Sara Mitchell
  • Function : Author
Katrina Moore
  • Function : Author
Benedetta Nacmias
  • Function : Author
Annabel Nelson
  • Function : Author
Jennifer Nicholas
  • Function : Author
Linn Öijerstedt
  • Function : Author
Jaume Olives
  • Function : Author
Sebastien Ourselin
  • Function : Author
Jessica Panman
  • Function : Author
Janne Papma
  • Function : Author
Yolande Pijnenburg
  • Function : Author
Cristina Polito
  • Function : Author
Sara Prioni
  • Function : Author
Catharina Prix
  • Function : Author
Rosa Rademakers
  • Function : Author
Veronica Redaelli
  • Function : Author
Daisy Rinaldi
  • Function : Author
Tim Rittman
  • Function : Author
Ekaterina Rogaeva
  • Function : Author
Adeline Rollin
  • Function : Author
Pedro Rosa-Neto
  • Function : Author
Giacomina Rossi
  • Function : Author
Martin Rossor
  • Function : Author
Beatriz Santiago
  • Function : Author
Dario Saracino
  • Function : Author
Sabrina Sayah
  • Function : Author
Elio Scarpini
  • Function : Author
Sonja Schönecker
  • Function : Author
Rachelle Shafei
  • Function : Author
Christen Shoesmith
  • Function : Author
Imogen Swift
  • Function : Author
Miguel Tábuas-Pereira
  • Function : Author
Mikel Tainta
  • Function : Author
Ricardo Taipa
  • Function : Author
David Tang-Wai
  • Function : Author
David Thomas
  • Function : Author
Paul Thompson
  • Function : Author
Hakan Thonberg
  • Function : Author
Carolyn Timberlake
  • Function : Author
Pietro Tiraboschi
  • Function : Author
Philip van Damme
  • Function : Author
Mathieu Vandenbulcke
  • Function : Author
Michele Veldsman
  • Function : Author
Ana Verdelho
  • Function : Author
Jorge Villanua
  • Function : Author
Jason Warren
  • Function : Author
Carlo Wilke
  • Function : Author
Ione Woollacott
  • Function : Author
Elisabeth Wlasich
  • Function : Author
Henrik Zetterberg
  • Function : Author
Miren Zulaica
  • Function : Author

Abstract

Frontotemporal dementia associated with granulin (GRN) mutations presents asymmetric brain atrophy. We applied a Minimum Spanning Tree plus an Efficiency Cost Optimization approach to cortical thickness data in order to test whether graph theory measures could identify global or local impairment of connectivity in the presymptomatic phase of pathology, where other techniques failed in demonstrating changes. We included 52 symptomatic GRN mutation carriers (SC), 161 presymptomatic GRN mutation carriers (PSC) and 341 non-carriers relatives from the Genetic Frontotemporal dementia research Initiative cohort. Group differences of global, nodal and edge connectivity in (Minimum Spanning Tree plus an Efficiency Cost Optimization) graph were tested via Structural Equation Models. Global graph perturbation was selectively impaired in SC compared to non-carriers, with no changes in PSC. At the local level, only SC exhibited perturbation of frontotemporal nodes, but edge connectivity revealed a characteristic pattern of interhemispheric disconnection, involving homologous parietal regions, in PSC. Our results suggest that GRN-related frontotemporal dementia resembles a disconnection syndrome, with interhemispheric disconnection between parietal regions in presymptomatic phases that progresses to frontotemporal areas as symptoms emerge.

Dates and versions

hal-04576072 , version 1 (15-05-2024)

Identifiers

Cite

Stefano Gazzina, Mario Grassi, Enrico Premi, Antonella Alberici, Alberto Benussi, et al.. Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia. Neurobiology of Aging, 2022, 114, pp.94-104. ⟨10.1016/j.neurobiolaging.2022.02.009⟩. ⟨hal-04576072⟩
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