Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Affiliation

Collaborators: Adeleye A, Alba C, Bacikova D, Hupalo DN, Martinez EM, Pollard HB, Sukumar G, Soltis AR, Tuck M, Zhang X, Wilkerson MD, Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Kost J, Scotter EL, Kenna KP, Miller JW, Tiloca C, Vance C, Danielson EW, Troakes C, Colombrita C, Al-Sarraj S, Lewis EA, King A, Calini D, Pensato V, Castellotti B, de Belleroche J, Baas F, Ten Asbroek ALMA, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Diekstra FP, Rademakers R, van Blitterswijk M, Boylan KB, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Gellera C, Ratti A, Brown RH Jr, Shaw CE, Ambrose JC, Arumugam P, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Craig CEH, Daugherty LC, de Burca A, Devereau A, Elgar G, Foulger RE, Fowler T, Furió-Tarí P, Hackett JM, Halai D, Hamblin A, Henderson S, Holman JE, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Lahnstein L, Lawson K, Leigh SEA, Leong IUS, Lopez JF, Maleady-Crowe F, Mason J, McDonagh EM, Moutsianas L, Mueller M, Murugaesu N, Need AC, Odhams CA, Patch C, Perez-Gil D, Polychronopoulos D, Pullinger J, Rahim T, Rendon A, Riesgo-Ferreiro P, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smedley D, Smith KR, Sosinsky A, Spooner W, Stevens HE, Stuckey A, Sultana R, Thomas ERA, Thompson SR, Tregidgo C, Walsh E, Watters SA, Welland MJ, Williams E, Witkowska K, Wood SM, Zarowiecki M, Arepalli S, Auluck P, Baloh RH, Bowser R, Brice A, Broach J, Camu W, Chiò A, Cooper-Knock J, Corcia P, Drepper C, Drory VE, Dunckley TL, Faghri F, Farren J, Feldman E, Floeter MK, Fratta P, Gerhard G, Gibson SB, Goutman SA, Heiman-Patterson TD, Hernandez DG, Hoover B, Jansson L, Kamel F, Kirby J, Kowall NW, Laaksovirta H, Landi F, Le Ber I, Lumbroso S, MacGowan DJ, Maragakis NJ, Mora G, Mouzat K, Myllykangas L, Nalls MA, Orrell RW, Ostrow LW, Pamphlett R, Pioro E, Pulst SM, Ravits JM, Renton AE, Robberecht W, Robey I, Rogaeva E, Rothstein JD, Sendtner M, Shaw PJ, Sidle KC, Simmons Z, Stone DJ, Tienari PJ, Trojanowski JQ, Troncoso JC, 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 HH, Khoshnood B, Öijerstedt L, Morris CM, Nacmias B, Sorbi S, Nielsen JE, Hjermind LE, Novelli V, Puca AA, 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 JC, Aarsland D, Alba C, Albert MS, Al-Sarraj S, Attems J, Bacikova D, Barrett MJ, Beach TG, Bekris LM, Bennett DA, Besser LM, Bigio EH, Black SE, Boeve BF, Bohannan RC, Brett F, Brice A, Brunetti M, Caraway CA, Palma JA, Calvo A, Canosa A, Clarimon J, Dickson D, Diez-Fairen M, Duyckaerts C, Faber K, Ferman T, Flanagan ME, Floris G, Foroud TM, Fortea J, Gan-Or Z, Gentleman S, Ghetti B, Gibbs JR, Goate A, Goldstein D, González-Aramburu I, Graff-Radford NR, Hodges AK, Hu HC, Hupalo D, Infante J, Iranzo A, Kaiser SM, Kaufmann H, Keith J, Kim RC, Klein G, Krüger R, Kukull W, Kuzma A, Lage C, Lesage S, Lleó A, Leverenz JB, Logroscino G, Lopez G, Love S, Mao Q, Marti MJ, Martinez-McGrath E, Masellis M, Masliah E, May P, McKeith I, Mesulam MM, Monuki ES, Morris CM, Newell KL, Norcliffe-Kaufmann L, Palmer L, Pastor P, Perkins M, Pletnikova O, Molina-Porcel L, Renton AE, Reynolds RH, Rodríguez-Rodríguez E, Rogaeva E, Rohrer JD, Sanchez-Juan P, Scherzer CR, Serrano GE, Shakkottai V, Sidransky E, Tayebi N, Thomas AJ, Tilley BS, Troakes C, Troncoso JC, Walton RL, Woltjer R, Wszolek ZK, Xiromerisiou G, Zecca C, Phatnani H, Kwan J, Sareen D, Broach JR, Simmons Z, Arcila-Londono X, Lee EB, Shneider NA, Fraenkel E, Ostrow LW, Baas F, Zaitlen N, Berry JD, Malaspina A, Fratta P, Cox GA, Thompson LM, Finkbeiner S, Dardiotis E, Miller TM, Chandran S, Pal S, Hornstein E, MacGowan DJ, Heiman-Patterson T, Hammell MG, Patsopoulos NA, Butovsky O, Dubnau J, Nath A, Bowser R, Harms M, Aronica E, Poss M, Phillips-Cremins J, Crary J, Atassi N, Lange DJ, Adams DJ, Stefanis L, Gotkine M, Baloh RH, 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, Capps E, Church A, Coebergh J, Costantini A, Critchley P, Ghosh BC, Hu MTM, Kobylecki C, Leigh PN, Mann C, Massey LA, Morris HR, Nath U, Pavese N, Paviour D, Sharma J, Vaughan J.
Author information:
(1)Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
(2)Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
(3)Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
(4)Department of Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA 02118, USA; Boston University Alzheimer's Disease Center, Boston University School of Medicine, Boston, MA 02118, USA; Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA; Department of Veterans Affairs Medical Center, Bedford, MA 01730, USA.
(5)Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK.
(6)Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
(7)Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
(8)Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
(9)Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
(10)Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
(11)Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Lund University, Lund 221 84, Sweden.
(12)Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Lund University, Lund 221 84, Sweden; Department of Internal Medicine, Sahlgrenska Academy, University of Gottenburg, Gottenburg 413 45, Sweden.
(13)Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Skåne University Hospital, 205 02 Malmö, Sweden.
(14)Cambridge University Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, Cambridge Biomedical Campus, Cambridge CB2 02Z, UK.
(15)Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy.
(16)Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy; MAC Memory Clinic, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy.
(17)Department of Neurology, Royal Free Hospital, London NW3 2PF, UK; Department of Clinical and Movement Neuroscience, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
(18)Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
(19)Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA.
(20)Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
(21)Department of Neurology - Stroke Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy; Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy.
(22)Department of Neuroscience & Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA.
(23)Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 3JH, UK.
(24)The Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA.
(25)Longitudinal Studies Section, National Institute on Aging, Baltimore, MD 21224, USA.
(26)Laboratory of Behavioral Neuroscience, National Institute on Aging, Baltimore, MD 21224, USA.
(27)Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK.
(28)Department of Neurology & Program in Behavioral Neuroscience, Boston University School of Medicine, Boston, MA 02118, USA; Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA.
(29)Department of Neurology, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA; Boston University Alzheimer's Disease Center, Boston University School of Medicine, Boston, MA 02118, USA.
(30)Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; UK Dementia Research Institute at UCL and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; NINR University College London Hospitals Biomedical Research Centre, University College London, London W1T 7DN, UK; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.
(31)Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
(32)Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.
(33)Department of Neurology, Royal Free Hospital, London NW3 2PF, UK.
(34)Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin 10126, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Rome 00185, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin 10126, Italy.
(35)Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
(36)Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA.
(37)Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA. Electronic address: [Email]

Abstract

Comment in Neuron. 2021 Jun 16;109(12):1945-1946. Neuron. 2021 Jun 16;109(12):1947-1948.