Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales - Sorbonne Université
Journal Articles Journal of Neurology, Neurosurgery and Psychiatry Year : 2023

Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales

Kiran Samra , Amy Macdougall , Georgia Peakman , Arabella Bouzigues , Martina Bocchetta , David M Cash , Caroline V Greaves , Rhian S Convery , John C van Swieten , Lize C Jiskoot , Harro Seelaar , Fermin Moreno , Raquel Sánchez-Valle , Robert Laforce , Caroline Graff , Mario Masellis , Maria Carmela Tartaglia , James B Rowe , Barbara Borroni , Elizabeth Finger , Matthis Synofzik , Daniela Galimberti , Rik Vandenberghe , Alexandre de Mendonca , Christopher R Butler , Alexander Gerhard , Simon Ducharme , Isabelle Le Ber (1) , Pietro Tiraboschi , Isabel Santana , Florence Pasquier (2) , Johannes Levin , Markus Otto , Sandro Sorbi , Jonathan D Rohrer , Lucy L Russell , Annabel Nelson , David L Thomas , Emily Todd , Hanya Benotmane , Jennifer Nicholas , 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 , 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 (1) , Alexis Brice (1) , Anne Bertrand (1) , Aurélie Funkiewiez (1) , Daisy Rinaldi (1) , Dario Saracino (1) , Olivier Colliot (1) , Sabrina Sayah (1) , 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
Kiran Samra
Amy Macdougall
  • Function : Author
Georgia Peakman
Arabella Bouzigues
  • Function : Author
Martina Bocchetta
David M Cash
  • Function : Author
Caroline V Greaves
  • Function : Author
Rhian S Convery
John C van Swieten
Lize C Jiskoot
Harro Seelaar
Fermin Moreno
  • Function : Author
Raquel Sánchez-Valle
  • Function : Author
Robert Laforce
  • Function : Author
Caroline Graff
  • Function : Author
Mario Masellis
  • Function : Author
Maria Carmela Tartaglia
  • Function : Author
James B Rowe
Barbara Borroni
Elizabeth Finger
Matthis Synofzik
Daniela Galimberti
Rik Vandenberghe
  • Function : Author
Alexandre de Mendonca
  • Function : Author
Christopher R Butler
  • Function : Author
Alexander Gerhard
Simon Ducharme
Pietro Tiraboschi
Isabel Santana
  • Function : Author
Johannes Levin
  • Function : Author
Markus Otto
  • Function : Author
Sandro Sorbi
Jonathan D Rohrer
Lucy L Russell
  • Function : Author
  • PersonId : 1364153
Annabel Nelson
  • Function : Author
David L Thomas
  • Function : Author
Emily Todd
  • Function : Author
Hanya Benotmane
  • Function : Author
Jennifer Nicholas
  • 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
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Veronica Redaelli
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David Tang-Wai
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Ekaterina Rogaeva
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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
Alexis Brice
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
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
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Abstract

Background Current clinical rating scales in frontotemporal dementia (FTD) often do not incorporate neuropsychiatric features and may therefore inadequately measure disease stage. Methods 832 participants from the Genetic FTD Initiative (GENFI) were recruited: 522 mutation carriers and 310 mutation-negative controls. The standardised GENFI clinical questionnaire assessed the frequency and severity of 14 neuropsychiatric symptoms: visual, auditory, and tactile hallucinations, delusions, depression, anxiety, irritability/lability, agitation/aggression, euphoria/elation, aberrant motor behaviour, hypersexuality, hyperreligiosity, impaired sleep, and altered sense of humour. A principal component analysis (PCA) was performed to identify key groupings of neuropsychiatric and behavioural items in order to create a new neuropsychiatric module that could be used as an addition to the Clinical Dementia Rating (CDR) plus National Alzheimer’s Coordinating Center Behaviour and Language Domains (NACC FTLD) rating scale. Results Overall, 46.4% of mutation carriers had neuropsychiatric symptoms (51.6% C9orf72 , 40.8% GRN , 46.6% MAPT ) compared with 24.5% of controls. Anxiety and depression were the most common in all genetic groups but fluctuated longitudinally and loaded separately in the PCA. Hallucinations and delusions loaded together, with the remaining neuropsychiatric symptoms loading with the core behavioural features of FTD. These results suggest using a single ‘psychosis’ neuropsychiatric module consisting of hallucinations and delusions. Adding this to the CDR plus NACC FTLD, called the CDR plus NACC FTLD-N, leads to a number of participants being scored more severely, including those who were previously considered asymptomatic now being scored as prodromal. Conclusions Neuropsychiatric symptoms occur in mutation carriers at all disease stages across all three genetic groups. However, only psychosis features provided additional staging benefit to the CDR plus NACC FTLD. Inclusion of these features brings us closer to optimising the rating scale for use in trials.
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hal-04531092 , version 1 (03-04-2024)

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Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, et al.. Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales. Journal of Neurology, Neurosurgery and Psychiatry, 2023, 94 (5), pp.357-368. ⟨10.1136/jnnp-2022-330152⟩. ⟨hal-04531092⟩
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