Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

Ramita Dewan; Ruth Chia; Jinhui Ding; Richard A Hickman; Thor D Stein; Yevgeniya Abramzon; Sarah Ahmed; Marya S Sabir; Makayla K Portley; Arianna Tucci; Kristina Ibáñez; FNU Shankaracharya; Pamela Keagle; Giacomina Rossi; Paola Caroppo; Fabrizio Tagliavini; Maria L Waldo; Per M Johansson; Christer F Nilsson; James B Rowe; Luisa Benussi; Giuliano Binetti; Roberta Ghidoni; Edwin Jabbari; Coralie Viollet; Jonathan D Glass; Andrew B Singleton; Vincenzo Silani; Owen A Ross; Mina Ryten; Ali Torkamani; Toshiko Tanaka; Luigi Ferrucci; Susan M Resnick; Stuart Pickering-Brown; Christopher B Brady; Neil Kowal; John A Hardy; Vivianna Van Deerlin; Jean Paul Vonsattel; Matthew B Harms; Huw R Morris; Raffaele Ferrari; John E Landers; Adriano Chiò; J Raphael Gibbs; Clifton L Dalgard; Sonja W Scholz; Bryan J Traynor; Adelani Adeleye; Camille Alba; Dagmar Bacikova; Daniel N Hupalo; Elisa McGrath Martinez; Harvey B Pollard; Gauthaman Sukumar; Anthony R Soltis; Meila Tuck; Xijun Zhang; Matthew D Wilkerson; Bradley N Smith; Nicola Ticozzi; Claudia Fallini; Athina Soragia Gkazi; Simon D Topp; Jason Kost; Emma L Scotter; Kevin P Kenna; Jack W Miller; Cinzia Tiloca; Caroline Vance; Eric W Danielson; Claire Troakes; Claudia Colombrita; Safa Al-Sarraj; Elizabeth A Lewis; Andrew King; Daniela Calini; Viviana Pensato; Barbara Castellotti; Jacqueline de Belleroche; Frank Baas; Anneloor LMA ten Asbroek; Peter C Sapp; Diane McKenna-Yasek; Russell L McLaughlin; Meraida Polak; Seneshaw Asress; Jesús Esteban-Pérez; José Luis Muñoz-Blanco; Zorica Stevic; Sandra D’Alfonso; Letizia Mazzini; Giacomo P Comi; Roberto Del Bo; Mauro Ceroni; Stella Gagliardi; Giorgia Querin; Cinzia Bertolin; Wouter van Rheenen; Frank P Diekstra; Rosa Rademakers; Marka van Blitterswijk; Kevin B Boylan; Giuseppe Lauria; Stefano Duga; Stefania Corti; Cristina Cereda; Lucia Corrado; Gianni Sorarù; Kelly L Williams; Garth A Nicholson; Ian P Blair; Claire Leblond-Manry; Guy A Rouleau; Orla Hardiman; Karen E Morrison; Jan H Veldink; Leonard H van den Berg; Ammar Al-Chalabi; Hardev Pall; Pamela J Shaw; Martin R Turner; Kevin Talbot; Franco Taroni; Alberto García-Redondo; Zheyang Wu; Cinzia Gellera; Antonia Ratti; Robert H Brown; Christopher E Shaw; John C Ambrose; Prabhu Arumugam; Emma L Baple; Marta Bleda; Freya Boardman-Pretty; Jeanne M Boissiere; Christopher R Boustred; H Brittain; Mark J Caulfield; Georgia C Chan; Clare EH Craig; Louise C Daugherty; Anna de Burca; Andrew Devereau; Greg Elgar; Rebecca E Foulger; Tom Fowler; Pedro Furió-Tarí; Joanne M Hackett; Dina Halai; Angela Hamblin; Shirley Henderson; James E Holman; Tim JP Hubbard; Rob Jackson; Louise J Jones; Dalia Kasperaviciute; Melis Kayikci; Lea Lahnstein; Kay Lawson; Sarah EA Leigh; Ivonne US Leong; Javier F Lopez; Fiona Maleady-Crowe; Joanne Mason; Ellen M McDonagh; Loukas Moutsianas; Michael Mueller; Nirupa Murugaesu; Anna C Need; Chris A Odhams; Christine Patch; Daniel Perez-Gil; Dimitris Polychronopoulos; John Pullinger; Tahrima Rahim; Augusto Rendon; Pablo Riesgo-Ferreiro; Tim Rogers; Kevin Savage; Kushmita Sawant; Richard H Scott; Afshan Siddiq; Alexander Sieghart; Damian Smedley; Katherine R Smith; Alona Sosinsky; William Spooner; Helen E Stevens; Alexander Stuckey; Razvan Sultana; Ellen RA Thomas; Simon R Thompson; Carolyn Tregidgo; Emma Walsh; Sarah A Watters; Matthew J Welland; Eleanor Williams; Katarzyna Witkowska; Suzanne M Wood; Magdalena Zarowiecki; Sampath Arepalli; Pavan Auluck; Robert H Baloh; Robert Bowser; Alexis Brice; James Broach; William Camu; John Cooper-Knock; Philippe Corcia; Carsten Drepper; Vivian E Drory; Travis L Dunckley; Faraz Faghri; Jennifer Farren; Eva Feldman; Mary Kay Floeter; Pietro Fratta; Glenn Gerhard; Summer B Gibson; Stephen A Goutman; Terry D Heiman-Patterson; Dena G Hernandez; Ben Hoover; Lilja Jansson; Freya Kamel; Janine Kirby; Neil W Kowall; Hannu Laaksovirta; Francesco Landi; Isabelle Le Ber; Serge Lumbroso; Daniel JL MacGowan; Nicholas J Maragakis; Gabriele Mora; Kevin Mouzat; Liisa Myllykangas; Mike A Nalls; Richard W Orrell; Lyle W Ostrow; Roger Pamphlett; Erik Pioro; Stefan M Pulst; John M Ravits; Alan E Renton; Wim Robberecht; Ian Robey; Ekaterina Rogaeva; Jeffrey D Rothstein; Michael Sendtner; Katie C Sidle; Zachary Simmons; David J Stone; Pentti J Tienari; John Q Trojanowski; Juan C Troncoso; Miko Valori; Philip Van Damme; Ludo Van Den Bosch; Lorne Zinman; Diego Albani; Barbara Borroni; Alessandro Padovani; Amalia Bruni; Jordi Clarimon; Oriol Dols-Icardo; Ignacio Illán-Gala; Alberto Lleó; Adrian Danek; Daniela Galimberti; Elio Scarpini; Maria Serpente; Caroline Graff; Huei-Hsin Chiang; Behzad Khoshnood; Linn Öijerstedt; Christopher M Morris; Benedetta Nacmias; Sandro Sorbi; Jorgen E Nielsen; Lynne E Hjermind; Valeria Novelli; Annibale A Puca; Pau Pastor; Ignacio Alvarez; Monica Diez-Fairen; Miquel Aguilar; Robert Perneczky; Janine Diehl-Schimd; Mina Rossi; Agustin Ruiz; Mercè Boada; Isabel Hernández; Sonia Moreno-Grau; Johannes C Schlachetzki; Dag Aarsland; Marilyn S Albert; Johannes Attems; Matthew J Barrett; Thomas G Beach; Lynn M Bekris; David A Bennett; Lilah M Besser; Eileen H Bigio; Sandra E Black; Bradley F Boeve; Ryan C Bohannan; Francesca Brett; Maura Brunetti; Chad A Caraway; Jose-Alberto Palma; Andrea Calvo; Antonio Canosa; Dennis Dickson; Charles Duyckaerts; Kelley Faber; Tanis Ferman; Margaret E Flanagan; Gianluca Floris; Tatiana M Foroud; Juan Fortea; Ziv Gan-Or; Steve Gentleman; Bernardino Ghetti; Jesse Raphael Gibbs; Alison Goate; David Goldstein; Isabel González-Aramburu; Neill R Graff-Radford; Angela K Hodges; Heng-Chen Hu; Daniel Hupalo; Jon Infante; Alex Iranzo; Scott M Kaiser; Horacio Kaufmann; Julia Keith; Ronald C Kim; Gregory Klein; Rejko Krüger; Walter Kukull; Amanda Kuzma; Carmen Lage; Suzanne Lesage; James B Leverenz; Giancarlo Logroscino; Grisel Lopez; Seth Love; Qinwen Mao; Maria Jose Marti; Elisa Martinez-McGrath; Mario Masellis; Eliezer Masliah; Patrick May; Ian McKeith; Marek-Marsel Mesulam; Edwin S Monuki; Kathy L Newell; Lucy Norcliffe-Kaufmann; Laura Palmer; Matthew Perkins; Olga Pletnikova; Laura Molina-Porcel; Regina H Reynolds; Eloy Rodríguez-Rodríguez; Jonathan D Rohrer; Pascual Sanchez-Juan; Clemens R Scherzer; Geidy E Serrano; Vikram Shakkottai; Ellen Sidransky; Nahid Tayebi; Alan J Thomas; Bension S Tilley; Ronald L Walton; Randy Woltjer; Zbigniew K Wszolek; Georgia Xiromerisiou; Chiara Zecca; Hemali Phatnani; Justin Kwan; Dhruv Sareen; James R Broach; Ximena Arcila-Londono; Edward B Lee; Neil A Shneider; Ernest Fraenkel; Noah Zaitlen; James D Berry; Andrea Malaspina; Gregory A Cox; Leslie M Thompson; Steve Finkbeiner; Efthimios Dardiotis; Timothy M Miller; Siddharthan Chandran; Suvankar Pal; Eran Hornstein; Daniel J MacGowan; Terry Heiman-Patterson; Molly G Hammell; Nikolaos A Patsopoulos; Oleg Butovsky; Joshua Dubnau; Avindra Nath; Matt Harms; Eleonora Aronica; Mary Poss; Jennifer Phillips-Cremins; John Crary; Nazem Atassi; Dale J Lange; Darius J Adams; Leonidas Stefanis; Marc Gotkine; Suma Babu; Towfique Raj; Sabrina Paganoni; Ophir Shalem; Colin Smith; Bin Zhang; Brent Harris; Iris Broce; Vivian Drory; John Ravits; Corey McMillan; Vilas Menon; Lani Wu; Steven Altschuler; Khaled Amar; Neil Archibald; Oliver Bandmann; Erica Capps; Alistair Church; Jan Coebergh; Alyssa Costantini; Peter Critchley; Boyd CP Ghosh; Michele TM Hu; Christopher Kobylecki; P Nigel Leigh; Carl Mann; Luke A Massey; Uma Nath; Nicola Pavese; Dominic Paviour; Jagdish Sharma; Jenny Vaughan

doi:10.1016/j.neuron.2020.11.005

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Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

Article de revue

Avec comité de lecture

Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis

Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A Hickman, Thor D Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S Sabir, Makayla K Portley, Arianna Tucci, …

Neuron, Vol.109(3), pp.448-460.e4

02/2021

DOI: https://doi.org/10.1016/j.neuron.2020.11.005

Résumé

1109 Neurosciences

1701 Psychology

1702 Cognitive Sciences

Neurology & Neurosurgery

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40–64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington’s disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.

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Titre: Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis
Créateurs - sans rôle: Ramita Dewan
Ruth Chia
Jinhui Ding
Richard A Hickman
Thor D Stein
Yevgeniya Abramzon
Sarah Ahmed
Marya S Sabir
Makayla K Portley
Arianna Tucci
Kristina Ibáñez
FNU Shankaracharya
Pamela Keagle
Giacomina Rossi
Paola Caroppo
Fabrizio Tagliavini
Maria L Waldo
Per M Johansson
Christer F Nilsson
James B Rowe
Luisa Benussi
Giuliano Binetti
Roberta Ghidoni
Edwin Jabbari
Coralie Viollet
Jonathan D Glass
Andrew B Singleton
Vincenzo Silani
Owen A Ross
Mina Ryten
Ali Torkamani
Toshiko Tanaka
Luigi Ferrucci
Susan M Resnick
Stuart Pickering-Brown
Christopher B Brady
Neil Kowal
John A Hardy
Vivianna Van Deerlin
Jean Paul Vonsattel
Matthew B Harms
Huw R Morris
Raffaele Ferrari
John E Landers
Adriano Chiò
J Raphael Gibbs
Clifton L Dalgard
Sonja W Scholz
Bryan J Traynor
Adelani Adeleye
Camille Alba
Dagmar Bacikova
Daniel N Hupalo
Elisa McGrath Martinez
Harvey B Pollard
Gauthaman Sukumar
Anthony R Soltis
Meila Tuck
Xijun Zhang
Matthew D Wilkerson
Bradley N Smith
Nicola Ticozzi
Claudia Fallini
Athina Soragia Gkazi
Simon D Topp
Jason Kost
Emma L Scotter
Kevin P Kenna
Jack W Miller
Cinzia Tiloca
Caroline Vance
Eric W Danielson
Claire Troakes
Claudia Colombrita
Safa Al-Sarraj
Elizabeth A Lewis
Andrew King
Daniela Calini
Viviana Pensato
Barbara Castellotti
Jacqueline de Belleroche
Frank Baas
Anneloor LMA ten Asbroek
Peter C Sapp
Diane McKenna-Yasek
Russell L McLaughlin
Meraida Polak
Seneshaw Asress
Jesús Esteban-Pérez
José Luis Muñoz-Blanco
Zorica Stevic
Sandra D’Alfonso
Letizia Mazzini
Giacomo P Comi
Roberto Del Bo
Mauro Ceroni
Stella Gagliardi
Giorgia Querin
Cinzia Bertolin
Wouter van Rheenen
Frank P Diekstra
Rosa Rademakers
Marka van Blitterswijk
Kevin B Boylan
Giuseppe Lauria
Stefano Duga
Stefania Corti
Cristina Cereda
Lucia Corrado
Gianni Sorarù
Kelly L Williams
Garth A Nicholson
Ian P Blair
Claire Leblond-Manry
Guy A Rouleau
Orla Hardiman
Karen E Morrison
Jan H Veldink
Leonard H van den Berg
Ammar Al-Chalabi
Hardev Pall
Pamela J Shaw
Martin R Turner
Kevin Talbot
Franco Taroni
Alberto García-Redondo
Zheyang Wu
Cinzia Gellera
Antonia Ratti
Robert H Brown
Christopher E Shaw
John C Ambrose
Prabhu Arumugam
Emma L Baple
Marta Bleda
Freya Boardman-Pretty
Jeanne M Boissiere
Christopher R Boustred
H Brittain
Mark J Caulfield
Georgia C Chan
Clare EH Craig
Louise C Daugherty
Anna de Burca
Andrew Devereau
Greg Elgar
Rebecca E Foulger
Tom Fowler
Pedro Furió-Tarí
Joanne M Hackett
Dina Halai
Angela Hamblin
Shirley Henderson
James E Holman
Tim JP Hubbard
Rob Jackson
Louise J Jones
Dalia Kasperaviciute
Melis Kayikci
Lea Lahnstein
Kay Lawson
Sarah EA Leigh
Ivonne US Leong
Javier F Lopez
Fiona Maleady-Crowe
Joanne Mason
Ellen M McDonagh
Loukas Moutsianas
Michael Mueller
Nirupa Murugaesu
Anna C Need
Chris A Odhams
Christine Patch
Daniel Perez-Gil
Dimitris Polychronopoulos
John Pullinger
Tahrima Rahim
Augusto Rendon
Pablo Riesgo-Ferreiro
Tim Rogers
Kevin Savage
Kushmita Sawant
Richard H Scott
Afshan Siddiq
Alexander Sieghart
Damian Smedley
Katherine R Smith
Alona Sosinsky
William Spooner
Helen E Stevens
Alexander Stuckey
Razvan Sultana
Ellen RA Thomas
Simon R Thompson
Carolyn Tregidgo
Emma Walsh
Sarah A Watters
Matthew J Welland
Eleanor Williams
Katarzyna Witkowska
Suzanne M Wood
Magdalena Zarowiecki
Sampath Arepalli
Pavan Auluck
Robert H Baloh
Robert Bowser
Alexis Brice
James Broach
William Camu
John Cooper-Knock
Philippe Corcia
Carsten Drepper
Vivian E Drory
Travis L Dunckley
Faraz Faghri
Jennifer Farren
Eva Feldman
Mary Kay Floeter
Pietro Fratta
Glenn Gerhard
Summer B Gibson
Stephen A Goutman
Terry D Heiman-Patterson
Dena G Hernandez
Ben Hoover
Lilja Jansson
Freya Kamel
Janine Kirby
Neil W Kowall
Hannu Laaksovirta
Francesco Landi
Isabelle Le Ber
Serge Lumbroso
Daniel JL MacGowan
Nicholas J Maragakis
Gabriele Mora
Kevin Mouzat
Liisa Myllykangas
Mike A Nalls
Richard W Orrell
Lyle W Ostrow
Roger Pamphlett
Erik Pioro
Stefan M Pulst
John M Ravits
Alan E Renton
Wim Robberecht
Ian Robey
Ekaterina Rogaeva
Jeffrey D Rothstein
Michael Sendtner
Katie C Sidle
Zachary Simmons
David J Stone
Pentti J Tienari
John Q Trojanowski
Juan C Troncoso
Miko Valori
Philip Van Damme
Ludo Van Den Bosch
Lorne Zinman
Diego Albani
Barbara Borroni
Alessandro Padovani
Amalia Bruni
Jordi Clarimon
Oriol Dols-Icardo
Ignacio Illán-Gala
Alberto Lleó
Adrian Danek
Daniela Galimberti
Elio Scarpini
Maria Serpente
Caroline Graff
Huei-Hsin Chiang
Behzad Khoshnood
Linn Öijerstedt
Christopher M Morris
Benedetta Nacmias
Sandro Sorbi
Jorgen E Nielsen
Lynne E Hjermind
Valeria Novelli
Annibale A Puca
Pau Pastor
Ignacio Alvarez
Monica Diez-Fairen
Miquel Aguilar
Robert Perneczky
Janine Diehl-Schimd
Mina Rossi
Agustin Ruiz
Mercè Boada
Isabel Hernández
Sonia Moreno-Grau
Johannes C Schlachetzki
Dag Aarsland
Marilyn S Albert
Johannes Attems
Matthew J Barrett
Thomas G Beach
Lynn M Bekris
David A Bennett
Lilah M Besser
Eileen H Bigio
Sandra E Black
Bradley F Boeve
Ryan C Bohannan
Francesca Brett
Maura Brunetti
Chad A Caraway
Jose-Alberto Palma
Andrea Calvo
Antonio Canosa
Dennis Dickson
Charles Duyckaerts
Kelley Faber
Tanis Ferman
Margaret E Flanagan
Gianluca Floris
Tatiana M Foroud
Juan Fortea
Ziv Gan-Or
Steve Gentleman
Bernardino Ghetti
Jesse Raphael Gibbs
Alison Goate
David Goldstein
Isabel González-Aramburu
Neill R Graff-Radford
Angela K Hodges
Heng-Chen Hu
Daniel Hupalo
Jon Infante
Alex Iranzo
Scott M Kaiser
Horacio Kaufmann
Julia Keith
Ronald C Kim
Gregory Klein
Rejko Krüger
Walter Kukull
Amanda Kuzma
Carmen Lage
Suzanne Lesage
James B Leverenz
Giancarlo Logroscino
Grisel Lopez
Seth Love
Qinwen Mao
Maria Jose Marti
Elisa Martinez-McGrath
Mario Masellis
Eliezer Masliah
Patrick May
Ian McKeith
Marek-Marsel Mesulam
Edwin S Monuki
Kathy L Newell
Lucy Norcliffe-Kaufmann
Laura Palmer
Matthew Perkins
Olga Pletnikova
Laura Molina-Porcel
Regina H Reynolds
Eloy Rodríguez-Rodríguez
Jonathan D Rohrer
Pascual Sanchez-Juan
Clemens R Scherzer
Geidy E Serrano
Vikram Shakkottai
Ellen Sidransky
Nahid Tayebi
Alan J Thomas
Bension S Tilley
Ronald L Walton
Randy Woltjer
Zbigniew K Wszolek
Georgia Xiromerisiou
Chiara Zecca
Hemali Phatnani
Justin Kwan
Dhruv Sareen
James R Broach
Ximena Arcila-Londono
Edward B Lee
Neil A Shneider
Ernest Fraenkel
Noah Zaitlen
James D Berry
Andrea Malaspina
Gregory A Cox
Leslie M Thompson
Steve Finkbeiner
Efthimios Dardiotis
Timothy M Miller
Siddharthan Chandran
Suvankar Pal
Eran Hornstein
Daniel J MacGowan
Terry Heiman-Patterson
Molly G Hammell
Nikolaos A Patsopoulos
Oleg Butovsky
Joshua Dubnau
Avindra Nath
Matt Harms
Eleonora Aronica
Mary Poss
Jennifer Phillips-Cremins
John Crary
Nazem Atassi
Dale J Lange
Darius J Adams
Leonidas Stefanis
Marc Gotkine
Suma Babu
Towfique Raj
Sabrina Paganoni
Ophir Shalem
Colin Smith
Bin Zhang
Brent Harris
Iris Broce
Vivian Drory
John Ravits
Corey McMillan
Vilas Menon
Lani Wu
Steven Altschuler
Khaled Amar
Neil Archibald
Oliver Bandmann
Erica Capps
Alistair Church
Jan Coebergh
Alyssa Costantini
Peter Critchley
Boyd CP Ghosh
Michele TM Hu
Christopher Kobylecki
P Nigel Leigh
Carl Mann
Luke A Massey
Uma Nath
Nicola Pavese
Dominic Paviour
Jagdish Sharma
Jenny Vaughan
Détails de publication: Neuron, Vol.109(3), pp.448-460.e4
Éditeur: Elsevier BV
Identifiants: 99155024009311
Unité académique: Institut des Neurosciences de Montpellier - INM
Langue: English
Type de ressource: Journal article