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

Dewan, R. orcid.org/0000-0002-7611-7032, Chia, R. orcid.org/0000-0002-4709-7423, Ding, J. et al. (469 more authors) (2021) Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis. Neuron, 109 (3). 448-460.e4. ISSN 0896-6273

Abstract

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Item Type: Article
Authors/Creators:
  • Dewan, R. ORCID logo https://orcid.org/0000-0002-7611-7032
  • Chia, R. ORCID logo https://orcid.org/0000-0002-4709-7423
  • Ding, J.
  • Hickman, R.A. ORCID logo https://orcid.org/0000-0002-8329-6083
  • Stein, T.D.
  • Abramzon, Y.
  • Ahmed, S. ORCID logo https://orcid.org/0000-0003-0247-2557
  • Sabir, M.S.
  • Portley, M.K.
  • Tucci, A.
  • Ibáñez, K.
  • Shankaracharya, F.N.U.
  • Keagle, P.
  • Rossi, G.
  • Caroppo, P.
  • Tagliavini, F.
  • Waldo, M.L.
  • Johansson, P.M. ORCID logo https://orcid.org/0000-0003-0073-7654
  • Nilsson, C.F.
  • Adeleye, A.
  • Alba, C.
  • Bacikova, D.
  • Hupalo, D.N.
  • Martinez, E.M.
  • Pollard, H.B.
  • Sukumar, G.
  • Soltis, A.R.
  • Tuck, M.
  • Zhang, X.
  • Wilkerson, M.D.
  • Smith, B.N.
  • Ticozzi, N.
  • Fallini, C.
  • Gkazi, A.S.
  • Topp, S.D.
  • Kost, J.
  • Scotter, E.L.
  • Kenna, K.P.
  • Miller, J.W.
  • Tiloca, C.
  • Vance, C.
  • Danielson, E.W.
  • Troakes, C.
  • Colombrita, C.
  • Al-Sarraj, S.
  • Lewis, E.A.
  • King, A.
  • Calini, D.
  • Pensato, V.
  • Castellotti, B.
  • de Belleroche, J.
  • Baas, F.
  • ten Asbroek, A.L.M.A.
  • Sapp, P.C.
  • McKenna-Yasek, D.
  • McLaughlin, R.L.
  • Polak, M.
  • Asress, S.
  • Esteban-Pérez, J.
  • Muñoz-Blanco, J.L.
  • Stevic, Z.
  • D’Alfonso, S.
  • Mazzini, L.
  • Comi, G.P.
  • Del Bo, R.
  • Ceroni, M.
  • Gagliardi, S.
  • Querin, G.
  • Bertolin, C.
  • van Rheenen, W.
  • Diekstra, F.P.
  • Rademakers, R.
  • van Blitterswijk, M.
  • Boylan, K.B.
  • Lauria, G.
  • Duga, S.
  • Corti, S.
  • Cereda, C.
  • Corrado, L.
  • Sorarù, G.
  • Williams, K.L.
  • Nicholson, G.A.
  • Blair, I.P.
  • Leblond-Manry, C.
  • Rouleau, G.A.
  • Hardiman, O.
  • Morrison, K.E.
  • Veldink, J.H.
  • van den Berg, L.H.
  • Al-Chalabi, A.
  • Pall, H.
  • Shaw, P.J. ORCID logo https://orcid.org/0000-0002-8925-2567
  • Turner, M.R.
  • Talbot, K.
  • Taroni, F.
  • García-Redondo, A.
  • Wu, Z.
  • Gellera, C.
  • Ratti, A.
  • Brown, R.H.
  • Shaw, C.E.
  • Ambrose, J.C.
  • Arumugam, P.
  • Baple, E.L.
  • Bleda, M.
  • Boardman-Pretty, F.
  • Boissiere, J.M.
  • Boustred, C.R.
  • Brittain, H.
  • Caulfield, M.J.
  • Chan, G.C.
  • Craig, C.E.H.
  • Daugherty, L.C.
  • de Burca, A.
  • Devereau, A.
  • Elgar, G.
  • Foulger, R.E.
  • Fowler, T.
  • Furió-Tarí, P.
  • Hackett, J.M.
  • Halai, D.
  • Hamblin, A.
  • Henderson, S.
  • Holman, J.E.
  • Hubbard, T.J.P.
  • Jackson, R.
  • Jones, L.J.
  • Kasperaviciute, D.
  • Kayikci, M.
  • Lahnstein, L.
  • Lawson, K.
  • Leigh, S.E.A.
  • Leong, I.U.S.
  • Lopez, J.F.
  • Maleady-Crowe, F.
  • Mason, J.
  • McDonagh, E.M.
  • Moutsianas, L.
  • Mueller, M.
  • Murugaesu, N.
  • Need, A.C.
  • Odhams, C.A.
  • Patch, C.
  • Perez-Gil, D.
  • Polychronopoulos, D.
  • Pullinger, J.
  • Rahim, T.
  • Rendon, A.
  • Riesgo-Ferreiro, P.
  • Rogers, T.
  • Savage, K.
  • Sawant, K.
  • Scott, R.H.
  • Siddiq, A.
  • Sieghart, A.
  • Smedley, D.
  • Smith, K.R.
  • Sosinsky, A.
  • Spooner, W.
  • Stevens, H.E.
  • Stuckey, A.
  • Sultana, R.
  • Thomas, E.R.A.
  • Thompson, S.R.
  • Tregidgo, C.
  • Walsh, E.
  • Watters, S.A.
  • Welland, M.J.
  • Williams, E.
  • Witkowska, K.
  • Wood, S.M.
  • Zarowiecki, M.
  • Arepalli, S.
  • Auluck, P.
  • Baloh, R.H.
  • Bowser, R.
  • Brice, A.
  • Broach, J.
  • Camu, W.
  • Chiò, A.
  • Cooper-Knock, J. ORCID logo https://orcid.org/0000-0002-0873-8689
  • Corcia, P.
  • Drepper, C.
  • Drory, V.E.
  • Dunckley, T.L.
  • Faghri, F.
  • Farren, J.
  • Feldman, E.
  • Floeter, M.K.
  • Fratta, P.
  • Gerhard, G.
  • Gibson, S.B.
  • Goutman, S.A.
  • Heiman-Patterson, T.D.
  • Hernandez, D.G.
  • Hoover, B.
  • Jansson, L.
  • Kamel, F.
  • Kirby, J. ORCID logo https://orcid.org/0000-0002-7468-5917
  • Kowall, N.W.
  • Laaksovirta, H.
  • Landi, F.
  • Le Ber, I.
  • Lumbroso, S.
  • MacGowan, D.J.L.
  • Maragakis, N.J.
  • Mora, G.
  • Mouzat, K.
  • Myllykangas, L.
  • Nalls, M.A.
  • Orrell, R.W.
  • Ostrow, L.W.
  • Pamphlett, R.
  • Pioro, E.
  • Pulst, S.M.
  • Ravits, J.M.
  • Renton, A.E.
  • Robberecht, W.
  • Robey, I.
  • Rogaeva, E.
  • Rothstein, J.D.
  • Sendtner, M.
  • Shaw, P.J. ORCID logo https://orcid.org/0000-0002-8925-2567
  • Sidle, K.C.
  • Simmons, Z.
  • Stone, D.J.
  • Tienari, P.J.
  • Trojanowski, J.Q.
  • Troncoso, J.C.
  • Valori, M.
  • Van Damme, P.
  • Van Den Bosch, L.
  • Zinman, L.
  • Albani, D.
  • Borroni, B.
  • Padovani, A.
  • Bruni, A.
  • Clarimon, J.
  • Dols-Icardo, O.
  • Illán-Gala, I.
  • Lleó, A.
  • Danek, A.
  • Galimberti, D.
  • Scarpini, E.
  • Serpente, M.
  • Graff, C.
  • Chiang, H.-H.
  • Khoshnood, B.
  • Öijerstedt, L.
  • Morris, C.M.
  • Nacmias, B.
  • Sorbi, S.
  • Nielsen, J.E.
  • Hjermind, L.E.
  • Novelli, V.
  • Puca, A.A.
  • Pastor, P.
  • Alvarez, I.
  • Diez-Fairen, M.
  • Aguilar, M.
  • Perneczky, R.
  • Diehl-Schimd, J.
  • Rogaeva, E.
  • Rossi, M.
  • Ruiz, A.
  • Boada, M.
  • Hernández, I.
  • Moreno-Grau, S.
  • Schlachetzki, J.C.
  • Aarsland, D.
  • Alba, C.
  • Albert, M.S.
  • Al-Sarraj, S.
  • Attems, J.
  • Bacikova, D.
  • Barrett, M.J.
  • Beach, T.G.
  • Bekris, L.M.
  • Bennett, D.A.
  • Besser, L.M.
  • Bigio, E.H.
  • Black, S.E.
  • Boeve, B.F.
  • Bohannan, R.C.
  • Brett, F.
  • Brice, A.
  • Brunetti, M.
  • Caraway, C.A.
  • Palma, J.-A.
  • Calvo, A.
  • Canosa, A.
  • Clarimon, J.
  • Dickson, D.
  • Diez-Fairen, M.
  • Duyckaerts, C.
  • Faber, K.
  • Ferman, T.
  • Flanagan, M.E.
  • Floris, G.
  • Foroud, T.M.
  • Fortea, J.
  • Gan-Or, Z.
  • Gentleman, S.
  • Ghetti, B.
  • Gibbs, J.R.
  • Goate, A.
  • Goldstein, D.
  • González-Aramburu, I.
  • Graff-Radford, N.R.
  • Hodges, A.K.
  • Hu, H.-C.
  • Hupalo, D.
  • Infante, J.
  • Iranzo, A.
  • Kaiser, S.M.
  • Kaufmann, H.
  • Keith, J.
  • Kim, R.C.
  • Klein, G.
  • Krüger, R.
  • Kukull, W.
  • Kuzma, A.
  • Lage, C.
  • Lesage, S.
  • Lleó, A.
  • Leverenz, J.B.
  • Logroscino, G.
  • Lopez, G.
  • Love, S.
  • Mao, Q.
  • Marti, M.J.
  • Martinez-McGrath, E.
  • Masellis, M.
  • Masliah, E.
  • May, P.
  • McKeith, I.
  • Mesulam, M.-M.
  • Monuki, E.S.
  • Morris, C.M.
  • Newell, K.L.
  • Norcliffe-Kaufmann, L.
  • Palmer, L.
  • Pastor, P.
  • Perkins, M.
  • Pletnikova, O.
  • Molina-Porcel, L.
  • Renton, A.E.
  • Reynolds, R.H.
  • Rodríguez-Rodríguez, E.
  • Rogaeva, E.
  • Rohrer, J.D.
  • Sanchez-Juan, P.
  • Scherzer, C.R.
  • Serrano, G.E.
  • Shakkottai, V.
  • Sidransky, E.
  • Tayebi, N.
  • Thomas, A.J.
  • Tilley, B.S.
  • Troakes, C.
  • Troncoso, J.C.
  • Walton, R.L.
  • Woltjer, R.
  • Wszolek, Z.K.
  • Xiromerisiou, G.
  • Zecca, C.
  • Phatnani, H.
  • Kwan, J.
  • Sareen, D.
  • Broach, J.R.
  • Simmons, Z.
  • Arcila-Londono, X.
  • Lee, E.B.
  • Shneider, N.A.
  • Fraenkel, E.
  • Ostrow, L.W.
  • Baas, F.
  • Zaitlen, N.
  • Berry, J.D.
  • Malaspina, A.
  • Fratta, P.
  • Cox, G.A.
  • Thompson, L.M.
  • Finkbeiner, S.
  • Dardiotis, E.
  • Miller, T.M.
  • Chandran, S.
  • Pal, S.
  • Hornstein, E.
  • MacGowan, D.J.
  • Heiman-Patterson, T.
  • Hammell, M.G.
  • Patsopoulos, N.A.
  • Butovsky, O.
  • Dubnau, J.
  • Nath, A.
  • Bowser, R.
  • Harms, M.
  • Aronica, E.
  • Poss, M.
  • Phillips-Cremins, J.
  • Crary, J.
  • Atassi, N.
  • Lange, D.J.
  • Adams, D.J.
  • Stefanis, L.
  • Gotkine, M.
  • Baloh, R.H.
  • Babu, S.
  • Raj, T.
  • Paganoni, S.
  • Shalem, O.
  • Smith, C.
  • Zhang, B.
  • Harris, B.
  • Broce, I.
  • Drory, V.
  • Ravits, J.
  • McMillan, C.
  • Menon, V.
  • Wu, L.
  • Altschuler, S.
  • Amar, K.
  • Archibald, N.
  • Bandmann, O. ORCID logo https://orcid.org/0000-0003-3149-0252
  • Capps, E.
  • Church, A.
  • Coebergh, J.
  • Costantini, A.
  • Critchley, P.
  • Ghosh, B.C.P.
  • Hu, M.T.M.
  • Kobylecki, C.
  • Leigh, P.N.
  • Mann, C.
  • Massey, L.A.
  • Morris, H.R.
  • Nath, U.
  • Pavese, N.
  • Paviour, D.
  • Sharma, J.
  • Vaughan, J.
  • Rowe, J.B.
  • Benussi, L. ORCID logo https://orcid.org/0000-0003-2836-8141
  • Binetti, G.
  • Ghidoni, R. ORCID logo https://orcid.org/0000-0002-7691-1957
  • Jabbari, E. ORCID logo https://orcid.org/0000-0001-6844-882X
  • Viollet, C.
  • Glass, J.D.
  • Singleton, A.B.
  • Silani, V.
  • Ross, O.A.
  • Ryten, M.
  • Torkamani, A. ORCID logo https://orcid.org/0000-0003-0232-8053
  • Tanaka, T.
  • Ferrucci, L.
  • Resnick, S.M.
  • Pickering-Brown, S. ORCID logo https://orcid.org/0000-0003-1561-6054
  • Brady, C.B.
  • Kowal, N.
  • Hardy, J.A.
  • Van Deerlin, V.
  • Vonsattel, J.P.
  • Harms, M.B.
  • Morris, H.R. ORCID logo https://orcid.org/0000-0002-5473-3774
  • Ferrari, R.
  • Landers, J.E.
  • Chiò, A.
  • Gibbs, J.R. ORCID logo https://orcid.org/0000-0002-6985-0658
  • Dalgard, C.L.
  • Scholz, S.W.
  • Traynor, B.J.
Copyright, Publisher and Additional Information:

© 2021 Elsevier. This is an author produced version of a paper subsequently published in Neuron. Uploaded in accordance with the publisher's self-archiving policy. Article available under the terms of the CC-BY-NC-ND licence (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: amyotrophic lateral sclerosis; frontotemporal dementia; huntingtin; repeat expansions; whole-genome sequencing; Amyotrophic Lateral Sclerosis; DNA Repeat Expansion; Frontotemporal Dementia; Humans; Huntingtin Protein; Mutation; Whole Genome Sequencing
Dates:
  • Accepted: 4 November 2020
  • Published (online): 25 November 2020
  • Published: 3 February 2021
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Neuroscience (Sheffield)
Funding Information:
Funder
Grant number
MEDICAL RESEARCH COUNCIL
MR/R011354/1
Medical Research Council
MR/L501529/1
Depositing User: Symplectic Sheffield
Date Deposited: 08 Jul 2025 13:48
Last Modified: 08 Jul 2025 13:48
Status: Published
Publisher: Elsevier BV
Refereed: Yes
Identification Number: 10.1016/j.neuron.2020.11.005
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Open Archives Initiative ID (OAI ID):

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