Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease
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Article Information
- Received July 31, 2020
- Accepted in final form February 12, 2021
- First Published March 25, 2021.
Article Versions
- Previous version (March 25, 2021 - 12:45).
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Author Disclosures
- Branduff McAllister, BSc, PhD,
- James F. Gusella, PhD,
- G. Bernhard Landwehrmeyer, MD, PhD,
- Jong-Min Lee, PhD,
- Marcy E. MacDonald, PhD,
- Michael Orth, MD, PhD,
- Anne E. Rosser, MB BChir, FRCP, PhD,
- Nigel M. Williams, BSc, PhD,
- Peter Holmans, BA, PhD,
- Lesley Jones, BSc, PhD*,
- Thomas H. Massey, MA, BM BCh, DPhil*;
- on behalf of the REGISTRY Investigators of the European Huntington's Disease Network
- Branduff McAllister, BSc, PhD,
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- James F. Gusella, PhD,
1) Triplet Therapeutics, Inc. 2) Familial Dysautonomia Foundation
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1) American Journal of Human Genetics, Board member, 1984-1987 2) Cytogenetics and Cell Genetics, Board member 1984- 1989 3) DNA and Cell Biology, Board member, 1984- 4) Reviews in the Neurosciences, Board member, 1984-2004 5) Molecular Brain Research, Board member, 1985-2005 6) Molecular and Cellular Probes, Board member, 1986- 2015 7) Genomics, Board member, 1987-1997 8) Somatic Cell and Molecular Genetics, Board member, 1989-2002 9) Neuropsychiatric Genetics, Section of American Journal of Medical Genetics, Board member, 1992-2006 10) Neurobiology of Disease, Board member, 1994-2015 11) Neurogenetics, Board member, 1997-2015 12) Biomed Central Neuroscience, Board member, 2000-2020 13) Biomed Central Biology, Board member, 2003- 14) Molecular Autism, Board member, 2009- 15) Journal of HuntingtonÂs Disease, Board member, 2012- 16) Human Genetics, Board Member, 2017-
1) Gusella JF, Housman D, Keys C, Varsanyi-Breiner A, Puck TT, Jones C, Kao FT, inventors; Massachusetts Institute of Technology, assignee. Isolation and localization of DNA segments. US Patent 4,594,318. Jun. 10, 1986. 2) Gusella JF, inventor; The General Hospital Corporation, assignee. Test for Huntington's disease. US Patent 4,666,828. May 19, 1987. 3) MacDonald ME, Gusella JF, Ambrose CM, inventors; The General Hospital Corporation, assignee. DNA encoding a protein-coupled receptor kinase. US Patent 5,366,889. Nov. 22, 1994. 4) Blumenfeld A, Gusella JF, inventors; The General Hospital Corporation, assignee. Use of genetic markers to diagnose familial dysautonomia. US Patent 5,387,506. Feb. 7, 1995. 5) Duyao MP, MacDonald ME, Gusella JF, inventors; The General Hospital Corporation, assignee. Transport protein gene from the Huntington's disease region. US Patent 5,538,844. Jul. 23, 1996. 6) MacDonald ME, Ambrose CM, Duyao MP, Gusella JF, inventors; The General Hospital Corporation, assignee. Huntingtin DNA, protein and uses thereof . US Patent 5,686,288. Nov. 11, 1997. 7) MacDonald ME, Ambrose CM, Duyao MP, Gusella JF, inventors; The General Hospital Corporation, assignee. Huntingtin DNA, protein and uses thereof . US Patent 5,693,757. Dec. 2, 1997. 8) Trofatter JA, MacCollin MM, Gusella; JF, inventors; The General Hospital Corporation, assignee. Tumor suppressor gene merlin. US Patent 5,707,863. Jan. 13, 1998. 9) Murthy AE, Gusella JF, inventors; The General Hospital Corporation, assignee. TPR-containing genes. US patent 5,935,851. Aug. 10, 1999. 10) Blumenfeld A, Gusella JF, inventors; The General Hospital Corporation, assignee. Use of genetic markers to diagnose familial dysautonomia. US Patent 5,998,133. Dec. 7, 1999. 11) Trofatter JA, MacCollin MM, Gusella; JF, inventors; The General Hospital Corporation, assignee. Tumor suppressor gene merlin and antibodies thereof. US Patent 6,077,685. Jun. 20, 2000. 12) Blumenfeld A, Gusella JF, Breakefield, XO, Slaugenhaupt, S. inventors, The General Hospital Corporation, assignee. Kits for detecting polymorphisms associated with familial dysautonomia. US Patent 6,262,250. Jul. 17, 2001. 13) Slaugenhaupt S, Gusella JF. Gene for identifying individuals with Familial Dysautonomia. US Patent 7,388,093. Jun. 17, 2008. 14) Slaugenhaupt S, Gusella JF. Methods for detecting mutations associated with familial dysautonomia. Patent 7,407,756. Aug. 5, 2008. 15) Slaugenhaupt S, Gusella JF. Methods for altering mRNA splicing and treating familial dysautonomia and other mechanistically related disorders. Patent 7,737,110. June 15, 2010. 16) Slaugenhaupt S, Gusella JF. Methods for altering mRNA splicing and treating familial dysautonomia by administering kinetin, benzyladenine, and tocotrienols. Patent 8,729,025. May 20, 2014. 17) Slaugenhaupt S, Gusella JF. Methods for altering mRNA splicing and treating familial dysautonomia by administering benzyladenine. Patent 9,265,766. February 23, 2016.
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1) Triplet Therapeutics, Inc. 2) Wave Life Sciences USA, Inc. 3) Warren Alpert Foundation
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1) Levo Pharmaceuticals
1) NIH/NINDS R01NS093200, PI, 2015-2020 2) NIH/NINDS R01NS091161, PI, 2015-2025 3) NIH/NIGMS P01GM061354, Project Leader, 2015-2020 4) NIH/NINDS R01NS102423, Co-Inv, 2017-2022 5) NIH/NICHD R01HD096326, Co-Inv, 2018-2023
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1) CHDI Foundation Inc., A2690, PI, 2009-2021 2) S Sydney DeYoung Foundation, 2012-2021
1) Triplet Therapeutics, Inc. Stock/Stock Options, Medical Equipment & Materials: 1) Eli Lilly, 2020- 2) Abbot, 2011- 3) Abbvie, 2013- 4) Johnson and Johnson, 2011- 5) Medtronic, 2015 6) CVS, 2018-
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- G. Bernhard Landwehrmeyer, MD, PhD,
(1) Hoffmann-La Roche (2) AOP Orphan (3) CHDI (4) Lundbeck (5) PTC Pharmaceuticals (6) Novartis (7) Roche Pharma AG (8) Acadia Pharm (9) Triplet (10) Takeda (11) NeuraMetrix
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(1) Hoffmann-La Roche, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (2) AOP Orphan, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (3) CHDI, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (4) Lundbeck, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (5) PTC, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (6) Novartis, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (7) Roche Pharma AG, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (8) Acadia Pharm, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (9) Triplet, received travel expenses and/or honoraria for lectures or educational activities not funded by industry. (10) Takeda, received travel expenses and/or honoraria for lectures or educational activities not funded by industry.
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Juvenile Huntington's Disease, Oxford University Press, 2009
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(1) CHDI (2) Hoffmann-La Roche (3) Lundbeck (4) PTC (5) AOP Orphan (6) Novartis (7) Roche Pharma AG (8) Acadia Pharma (9) Takeda (10) NeuraMetrix
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(1) CHDI, funding (2) EU (FP6&7), research grant/funding (3) BMBF, research grant/funding (4) DFG, research grant/funding (5) JPND, research grant/funding
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(1) CHDI Foundation: Enroll-HD: A Prospective Registry Study in a Global Huntington Disease (HD) Cohort, Observational, prospective, multi-national, multi-centre study, Global PI (2) Hoffmann-La Roche: Natural History, BN40422, multi-centre, longitudinal cohort study measuring CSF in HD patients, PI, study site Ulm (3) Hoffmann-La Roche: Phase III, BN40423, randomized, multi-centre, double-blind study to evaluate efficacy of RG6042 in manifest HD patients, PI, study site Ulm & Germany (4)Hoffmann-La Roche: GEN-EXTEND, BN40955, open-label extension study to evaluate long-term safety of RG6042 in HD patients, PI, study site Ulm & Germany (5) HDClarity, multi-centre CSF collection study for HD patients, Investigator (6) PACE-HD,Physical Activity and Exercise outcomes in HD, longitudinal cohort study, PI study site Ulm (7) Ionis: Ionis-HTTRx in early manifest HD patients, double-blind, placebo controlled study, PI for study site Ulm & Germany
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(1) Received grant support from CHDI - Cure Huntington's Disease Initiative Foundation (2) Was Executive Committee Chair (2004-2014)of EHDN - European Huntington's Disease Network
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- Jong-Min Lee, PhD,
1. GenEdit Inc. (Commercial)
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NINDS, R01, NS119471, PI, 5 years
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1. Commercial. Stock option from GenEdit Inc.
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- Marcy E. MacDonald, PhD,
(2) Huntington's Disease Society of American Scientific Review Board (non- profit, not compensated).
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NIH NSR01NS091161 (co-investigator) NIH NSR01NS106384 (co-investigator)
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CHDI Foundation, Inc.
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- Michael Orth, MD, PhD,
Voyager Therapeutics, Inc.
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- Anne E. Rosser, MB BChir, FRCP, PhD,
1. Triplet Scientific Advisory Board 2. WAVE Life Sciences Scientific Advisory Board 3. Roche Scientific Advisory Board 4. Huntington's Study Group Steering Committee
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1. Cambridge Neuroscience, travel funding 2. Cure Huntington's Disease Initiative, travel funding 3. Guarantors of BRAIN, travel funding 4. University of Leicester, travel funding 5. CIRM, honorarium 6. AMND 2019, travel funding 7. Gordon Research Conferences, travel funding, honorarium 8. European Huntington's Disease Network, travel funding 9. Roche, travel funding, honorarium
Brain Communications, Associate Editor, 2020
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Schools of Bioscience and Medicine Cardiff University Museum Avenue cardiff CF10 3AX
Wave Life Sciences
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1. European Huntington's Disease Network, Chair of Executive Committee 2. Guarantors of BRAIN, Chair of Board of Management
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1. Roche 2. Wave Life Sciences 3. Triplet Therapeutics 4. HSG Prilenia 5. Ionis Pharmaceuticals
Medical Research Council, 513862, PI, 010518-310821 HCRW, 512818, PI, 011017-280222 HCRW, 514033, PI, 010418 - 310321 HCRW, 517188, PI, 010420 - 310323 EU, 515071, PI, 011018 - 300922
Hashemite University
Parkinson's UK European Huntington Disease network Cure Huntington's Disease Initiative Jacque and Gloria Gossweiler Cure Alzheimer's Research in Europe
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- Nigel M. Williams, BSc, PhD,
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Parkinson's UK Alzheimer's Research UK
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- Peter Holmans, BA, PhD,
(1) European Huntington's Disease Network (EHDN) (2) ENROLL-HD
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(1) Annals of Human Genetics, Editorial Board, 2017-
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(1) Cardiff University, Professor of Biostatistics & Genetic Epidemiology
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(1)CHDI Foundation, Grant A-14040
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- Lesley Jones, BSc, PhD*,
(1)LoQus23 Therapeutics (2)Triplet Therapeutics
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(1)LoQus23 Therapeutics
(1)Medical Research Council, UK MR/L010505/1, co-PI, 2014-2019
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(1)CHDI (2)Brain Research Trust, UK (3)Wellcome Trust (4)Alzheimer's Research UK
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- Thomas H. Massey, MA, BM BCh, DPhil*;
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(1) Medical Research Council (MRC), MR/P001629/1, Clinical Research Training Fellow, 2016-2020 (2) Welsh Clinical Academic Track (WCAT), WAL/006-ACA/7040601, Clinical Training Fellow
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(1) Patrick Berthoud Charitable Trust
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- on behalf of the REGISTRY Investigators of the European Huntington's Disease Network
- From the Division of Psychological Medicine and Clinical Neurosciences (B.M., N.M.W., P.H., L.J., T.H.M.), Brain Repair Group (A.E.R.), Schools of Medicine and Biosciences, and Neuroscience and Mental Health Research Institute (A.E.R.), Cardiff University, UK; Molecular Neurogenetic Unit (J.F.G., J.-M.L., M.E.M.), Center for Genomic Medicine, Massachusetts General Hospital; Department of Genetics (J.F.G., J.-M.L., M.E.M.), Harvard Medical School, Boston, MA; Department of Neurology (G.B.L.), University of Ulm, Germany; and Swiss Huntington's Disease Centre (M.O.), Siloah, Bern, Switzerland.
- Correspondence
Dr. Massey masseyt1{at}cardiff.ac.uk
Article usage
Cited By...
Letters: Rapid online correspondence
- Author Response: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease
- Thomas H Massey, Clinical Academic Neurologist, Cardiff University
- Branduff McAllister, Research Associate, Cardiff University
- Anne E Rosser, Professor, Cardiff University
- Lesley Jones, Professor, Cardiff University
Submitted December 10, 2021 - Reader Response: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease
- Thomas D Bird, Professor, University of Washington, Seattle, WA, USA
- Herwig Lange, Professor, George Huntington Institute, Muenster, Germany
- Travis Cruickshank, Professor, Centre for Precision Health, Perth, Australia
- Matthias Dose, Professor, Kliniken des Bezirks Oberbayern, Munchen, Germany
- Clare Eddy, Professor, Birmingham & Solihull Mental Health, NHS Foundation Trust, National Centre for Mental Health, University of Birmingham, UK
- Mayke Oosterloo, Professor, Maastricht UMC, Maastricht, The Netherlands
- Jane S. Paulsen, Professor, University of Wisconsin, Madison, WI, USA
- Ralf Reilmann, Professor, George Huntington Institute, Muenster, Germany
- Hugh Rickards, Professor, Birmingham & Solihull Mental Health, NHS Foundation Trust, National Centre for Mental Health, University of Birmingham, UK
- Raymund A.C. Roos, Professor, Department of Neurology, LUMC, Leiden, The Netherlands
- Adolf Weindl, Professor, Department of Neurology, Technical University of Munich, Munich, Germany
Submitted October 18, 2021 - Reader Response: Timing and Impact of Psychiatric, Cognitive, and Motor Abnormalities in Huntington Disease
- Ciaran M. Considine, Assistant Professor of Neurology, Vanderbilt University Medical Center
- Mary Edmondson, Founding Medical Director of HD Reach, Vidant Behavioral Health
- Erin Stimming, Associate Professor of Neurology and Director of the Huntington Disease Center of Excellence, McGovern Medical School at University of Texas Health Science Center-Houston
- Claudia Testa, Professor of Neurology and Founding Director of the Huntington Disease Center of Excellence, Virginia Commonwealth University
- Karen E. Anderson, Professor of Neurology & Psychiatry, Director of the Huntington’s Disease Care, Education & Research Center at MedStar, Georgetown University Hospital
- Daniel O. Claassen, Associate Professor of Neurology, Division Chief of Behavioral & Cognitive Neurology, Director of the Huntington Disease Cen, Vanderbilt University Medical Center
Submitted April 29, 2021
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