Introduction to RESEARCH at the CHD

The Centre for Huntington Disease at the University of British Columbia Hospital in Vancouver BC Canada, offers expert multi-disciplinary care to individuals and families affected by HD. In addition, the CHD provides an opportunity to become involved in cutting-edge research, including clinical trials of potential new therapies for HD. The hope of all our research efforts is to improve our understanding of HD, advance the management of HD symptoms, and ultimately to find a cure for this devastating disorder.
What TREATMENTS are available for HD?
Treatments for HD can be divided into two categories: those that are aimed at treating the symptoms of the illness (like depression or chorea), and those that slow down the underlying progression of the illness. Although there are currently no treatments proven to slow down progression or to delay the onset of HD, there is research that aims to identify such treatments. In addition, development of improved symptomatic treatments is also an area of active clinical research.

The entire HD community benefits from clinical research… every study we complete brings us closer to the day when a cure for HD is available.

WHY get involved in HD RESEARCH?
From scientists conducting basic studies in animals, to doctors running clinical trials, the entire HD research community is engaged in a cooperative endeavor to develop treatments and to eventually cure HD. Cooperation between researchers is critical to this effort, but these efforts would be futile without the engagement and active participation of HD patients and families. The CHD is active in a number of clinical trials. This provides an opportunity for families affected by HD to contribute directly to the research effort. Our research staff at the CHD  have decades of experience working with families to ensure volunteers for our clinical trials are well informed and feel valued for their contribution.

 

Joji Decolongon MSc, CCRP

Clinical Research Manager

joji@cmmt.ubc.ca

+1(604)822.7928

 

 

FUNDING for RESEARCH at the CHD
HD research at the CHD is made possible through the generous support of individual donors, families, HD organizations, foundations, and industry sponsors. We are grateful to all of our supporters for their valuable contributions to the fight against HD.


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If you would like to help directly fund HD research at the Centre for HD at UBC and to advance the welfare of HD patients and their families, please consider donating to the CHD.

Clinical Research Trials:

Click on the name of the clinical trial to reveal details about the trial

This study aims to extend the success of TRACK-HD in identifying the best measurements to detect changes in  HD gene-carriers who have not yet developed the symptoms of HD.  TRACK-ON involves 240 participants from 4 international sites: Leiden (The Netherlands), London (UK), Paris (France), Vancouver (Canada).  TRACK-ON launched April 2012 and will run for 3 years.  Enrollment is closed.For more information, contact Joji Decolongon.

NEUROBIOLOGICAL PREDICTORS OF HUNTINGTON DISEASE The purpose of this study is to prepare for a trial of experimental drugs aimed at slowing or postponing the onset of HD.  It aims to address questions about: (1) the earliest changes in the brain, intellect, and behaviour; (2) neurobiological factors that influence the age of onset; and (3) the most accurate tests that clinicians can use in detecting HD onset.  The study is ongoing but enrollment is closed.For more information, contact Joji Decolongon.

A PHASE III, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, SAFETY AND EFFICACY STUDY OF COENZYME Q10 IN HD This is a clinical trial investigating the effect of high-dose Coenzyme Q10 (2400 mg/day) in slowing progression of HD.  Coenzyme Q10 (CoQ10) is present in all human cells, and increases cell energy and combats harmful substances, functions that are  particularly important in the brain.  An earlier study (CARE-HD) investigating CoQ10 at a lower dose of 600 mg/day, yielded inconclusive results as to its effect in slowing HD progression.  2CARE is ongoing but enrollment is closed.For more information, contact Joji Decolongon.

A TRIAL OF MEMANTINE AS SYMPTOMATIC TREATMENT FOR EARLY HUNTINGTON DISEASE (MITIGATE-HD)The goal of this study is to determine the effect of memantine on movement, thinking, and emotional difficulties in HD patients.  MITIGATE-HD is a single-centre, Phase IIb, randomized, double-blind, placebo-controlled trial of memantine treatment.  This study enrolled 25 participants from September 2011 to September 2012 and was completed in January 2013.

A PROSPECTIVE REGISTRY STUDY IN A GLOBAL HD COHORT (ENROLL-HD)Launched in January 2013, ENROLL-HD aims to accelerate the development of therapies for HD.  An observational trial, ENROLL-HD does not involve any intervention(s).  This study is actively enrolling participants.For more information, contact Tuan Le.

A MULTI-CENTRE, North American, open-label extension study of Prdopidine (ACR16) in the syptomatic treatment of Huntington disease. Started in  2011, this trial offers continued treatment to HD patients who previously participated in clinically controlled studies and who have wished to continue their treatment.  Open-HART is an ongoing study but is no longer enrolling participants.For more information, contact Tuan Le.

Open-Label Extension Study of Remacemide Hydrochloride (OLE) The purpose of this trial was to assess the safety of long-term (28-month) exposure to remacemide hydrochloride (an investigational medication) in people with Huntington's Disease, as well as analyse the effect of remacemide hydrochloride on chorea, mood and mental functioning.  The study was terminated because CARE-HD results showed that remacemide does not benefit HD patients.

Prospective Huntington At Risk Observational Study (PHAROS) The PHAROS Project was an observational study in North America (US and Canada) of people ages 26 to 55 who were at risk for Huntington's Disease. During the study, subjects were evaluated every nine (9) months (for a minimum period of 3 years) using a clinical survey known as the Unified Huntington's Disease Rating Scale (UHDRS), which looks at movement, psychological and behavioral function. The study has finished.

Riluzole Dosing in Huntington's Disease (RID-HD) The purpose of this trial was to analyze the short term effect of riluzole on chorea, mood and mental functioning as well as assess tolerability of different doses. Riluzole decreases the release of glutamate from neurons. It is also possible that it protects neurons from cell death by other mechanisms. Results showed that although riluzole showed some effect on chorea at the higher dose tested, it had unfavourable side-effects and it did not appear to benefit other features of HD.  The study has finished.

A Study of Treatment with Ethyl-eicosapentaenoate in Patients with HD (Ethyl-EPA) The purpose of this trial was to analyze the effect of ethyl-eicosapentaenoate (ethyl-EPA) on chorea, mood, and mental functioning. Ethyl-EPA may prevent degeneration of nerve cells by preventing stress and damage to their external and internal membranes. It was found that patients with a CAG repeat length of less than 45 showed some improvement over a 12-month period. Results from a follow-up study were inconclusive.  The study has finished.

This is a small trial aimed at testing the safety of ISIS-HTTRx in a limited number of individuals with HD. Enrollment for this study is closed. Please continue to watch this site for updates.
More information available here.

A MULTI-CENTRE, International, cerebrospinal fluid collection initiative to facilitate therapeutic development for Huntington’s disease. Started in  2017, further enrollment will continue in Fall 2017. Please continue to watch this site for updates. For more information, contact Rachel Wan.

HD Clinical Research Publications

Byrne LM, Rodrigues FB, Blennow K, Durr A, Leavitt BR, Roos RAC, Scahill RI, Tabrizi SJ, Zetterberg H, Langbehn D, Wild EJ (2017) Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington’s disease: a retrospective cohort analysis [ePub ahead of print]

Quinti L, Dayalan Naidu S, Träger U, Chen X, Kegel-Gleason K, Llères D, Connolly C, Chopra V, Low C, Moniot S, Sapp E, Tousley AR, Vodicka P, Van Kanegan MJ, Kaltenbach LS, Crawford LA, Fuszard M, Higgins M, Miller JRC, Farmer RE, Potluri V, Samajdar S, Meisel L, Zhang N, Snyder A, Stein R, Hersch SM, Ellerby LM, Weerapana E, Schwarzschild MA, Steegborn C, Leavitt BR, Degterev A, Tabrizi SJ, Lo DC, DiFiglia M, Thompson LM, Dinkova-Kostova AT, Kazantsev AG. (2017) KEAP1-modifying small molecule reveals muted NRF2 signaling responses in neural stem cells from Huntington's disease patients. Proceedings of the National Academy of Sciences USA May 22 SG [ePub ahead of print]

McColgan P, Razi A, Gregory S, Seunarine KK, Durr A, Roos RAC, Leavitt BR, Scahill RI, Clark CA, Lanbehn D, Rees G, Tabrizi SJ and the Track On-HD Investigators (2017) Structural and functional brain network correlates of depressive symptoms in Premanifest Huntington’s disease. Human Brain Mapping Jun;38(6):2819-2829

McColgan P, Seunarine KK, Gregory S, Razi A, Papoutsi M, Long JD, Mills JA, Johnson E, Durr A, Roos RAC, Leavitt BR, Stout JC, Scahill RI, Clark CA, Rees G, Tabrizi SJ, TRACK ON Investigators (2017) Topological length of white matter connections predicts their rate of atrophy in premanifest Huntington's disease. Journal of Clinical Investigation Insight Apr 20;2(8)

Gregory S, Long JD, Klöppel S, Razi A, Scheller E, Minkova L, Papoutsi M, Mills JA, Durr A, Leavitt BR, Roos RA, Stout JC, Scahill RI, Langbehn DR, Tabrizi SJ, and Rees G (2017) Operationalizing compensation over time in neurodegenerative disease. Brain Apr 1;140(4):1158-1165

McColgan P, Gregory S, Razi a, Seunarine KK, Gargouri F, Durr A, Roos RAC, Leavitt BR, Scahill RI, Clark CA, Tabrizi SJ, Rees G and the Track On-HD Investigators (2017) White matter predicts functional connectivity in premanifest Huntington’s disease. Annals of Clinical and Translational Neurology Jan 16;4(2):106-118

McGarry A, McDermott M, Kieburtz K, de Blieck EA, Beal F, Marder K, Ross C, Shoulson I, Gilbert P, Mallonee WM, Guttman M, Wojcieszek J, Kumar R, LeDoux MS, Jenkins M, Rosas HD, Nance M, Biglan K, Como P, Dubinsky RM, Shannon KM, O'Suilleabhain P, Chou K, Walker F, Martin W, Wheelock VL, McCusker E, Jankovic J, Singer C, Sanchez-Ramos J, Scott B, Suchowersky O, Factor SA, Higgins DS Jr, Molho E, Revilla F, Caviness JN, Friedman JH, Perlmutter JS, Feigin A, Anderson K, Rodriguez R, McFarland NR, Margolis RL, Farbman ES, Raymond LA, Suski V, Kostyk S, Colcher A, Seeberger L, Epping E, Esmail S, Diaz N, Fung WL, Diamond A, Frank S, Hanna P, Hermanowicz N, Dure LS, Cudkowicz M; Huntington Study Group 2CARE Investigators and Coordinators (2017) A randomized, double-blind, placebo-controlled trial of coenzyme Q10 in Huntington disease. Neurology Jan 10;88(2):152-159

Carvalho JO, Long JD, Westervelt HJ, Smith MM, Bruce JM, Kim JI, Mills JA, Paulsen JS; PREDICT-HD Investigators And Coordinators Of The Huntington Study Group (2016) The impact of oculomotor functioning on neuropsychological performance in Huntington disease. Journal of Clinical and Experimental Neuropsycholy. Jan 08;38(2):217-26

Minkova L, Eickhoff SB, Abdulkadir A, Kaller CP, Peter J, Scheller E, Lahr J, Roos RA, Durr A, Leavitt BR, Tabrizi SJ, Klöppel S; TRACK-HD Investigators (2016) Large-scale brain network abnormalities in Huntington's disease revealed by structural covariance. Human Brain Mapping. 37(1): 67-80

Huntington Study Group PHAROS Investigators (2016) Clinical-Genetic Associations in the Prospective Huntington at Risk Observational Study (PHAROS): Implications for Clinical Trials. JAMA Neurology. 73(1): 102-10

Keogh R, Frost C, Owen G, Daniel RM, Langbehn DR, Leavitt BR, Durr A, Roos RA, Landwehrmeyer GB, Reilmann R, Borowsky B, Stout J, Craufurd D, Tabrizi SJ. (2016) Medication Use in Early-HD Participants in Track-HD: an Investigation of its Effects on Clinical Performance. PLoS Currents. 8

Wiecki TV, Antoniades CA, Stevenson A, Kennard C, Borowsky B, Owen G, Leavitt BR, Roos R, Durr A, Tabrizi SJ, Frank MJ (2016) Computational Cognitive Biomarker for Early-Stage Huntington's Disease. PLoS One. 11(2)

De Souza RA, Islam SA, McEwen LM, Mathelier A, Hill A, Mah SM, Wasserman WW, Kobor MS, Leavitt BR (2016) DNA methylation profiling in human Huntington's disease brain. Human Molecular Genetics 15:25 (10):2013-2030

Wagner L, Björkqvist M, Hult Lundh S, Wolf R, Börgel A, Schlenzig D, Ludwig HH, Rahfeld JU, Leavitt BR, Demuth HU, Petersén Å, von Hörsten S. Neuropeptide Y (NPY) in cerebrospinal fluid from patients with Huntington's Disease: increased NPY levels and differential degradation of the NPY1-30 fragment. Journal of Neurochemisty. Jun;137(5):820-37

Huntington Study Group, Frank S, Testa CM, Stamler D, Kayson E, Davis C, Edmondson MC, Kinel S, Leavitt BR, Oakes D, O'Neill C, Vaughan C, Goldstein J, Herzog M, Snively V, Whaley J Wong C, Suter G, Jankovic J, Jimenez-Shahed J, Hunter C, Claassen DO, Roman OC, Sung V, Smith J, Janicki S, Clouse R, Saint-Hilaire M, Hohler A, Turpin D, James RC, Rodriguez R, Rizer K, Anderson KE, Heller H, Carlson A, Criswell S, Racette BA, Revilla FJ, Nucifora F Jr, Margolis RL, Ong M, Mendis T, Mendis N, Singer C, Quesada M, Paulsen JS, Brashers-Krug T, Miller A, Kerr J, Dubinsky RM, Gray C, Factor SA, Sperin E, Molho E, Eglow M, Evans S, Kumar R, Reeves C, Samii A, Chouinard S, Beland M, Scott BL, Hickey PT, Esmail S, Fung WL, Gibbons C, Qi L, Colcher A, Hackmyer C, McGarry A, Klos K, Gudesblatt M, Fafard L, Graffitti L, Schneider DP, Dhall R, Wojcieszek JM, LaFaver K, Duker A, Neefus E, Wilson-Perez H, Shprecher D, Wall P, Blindauer KA, Wheeler L, Boyd JT, Houston E, Farbman ES, Agarwal P, Eberly SW, Watts A, Tariot PN, Feigin A, Evans S, Beck C, Orme C, Edicola J, Christopher E (2016) Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial. Journal of American Medicine Association Jul 5;316(1):40-50

Labuschagne I, Cassidy AM, Scahill RI, Johnson EB, Rees E, O'Regan A, Queller S, Frost C, Leavitt BR, Dürr A, Roos R, Owen G, Borowsky B, Tabrizi SJ, Stout JC; TRACK-HD Investigators (2016) Visuospatial Processing Deficits Linked to Posterior Brain Regions in Premanifest and Early Stage Huntington's Disease. Journal of the International Neuropsychological Society Jul;22(6):595-608

Orth M, Gregory S, Scahill RI, Mayer IS, Minkova L, Klöppel S, Seunarine KK, Boyd L, Borowsky B, Reilmann R, Bernhard Landwehrmeyer G, Leavitt BR, Roos RA, Durr A, Rees G, Rothwell JC, Langbehn D, Tabrizi SJ; TRACK-On Investigators (2016) Natural variation in sensory-motor white matter organization influences manifestations of Huntington's disease. Human Brain Mapping Dec;37(12):4615-4628

Rodrigues FB, Byrne L, McColgan P, Robertson N, Tabrizi SJ, Leavitt BR, Zetterberg H, Wild EJ (2016) Cerebrospinal fluid total tau concentration predicts clinical phenotype in Huntington's disease. Journal of Neurochemistry Oct;139(1):22-5

Marie-Hélène Disatnik, Amit U. Joshi, Nay L. Saw, Mehrdad Shamloo, Blair R. Leavitt, Xin Qi, Daria Mochly-Rosen (2016) Potential biomarkers to follow the progression and treatment response of Huntington’s disease. Journal of Experimental Medicine Nov 14; 213(12): 2655–2669

Liu D, Long JD, Zhang Y, Raymond LA, Marder K, Rosser A, McCusker EA, Mills JA, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group (2015) Motor onset and diagnosis in Huntington disease using the diagnostic confidence level. J Neurol. 2015 Dec;262(12):2691-2698

Träger U, Andre R, Magnusson-Lind A, Miller JR, Connolly C, Weiss A, Grueninger S, Silajdžić E, Smith DL, Leavitt BR, Bates GP, Björkqvist M, Tabrizi SJ (2015) Characterization of immune cell function in fragment and full-length Huntington's disease mouse models. Neurobiology of Disease. 73: 388-98

Huntington Study Group Reach2HD Investigators (2015) Safety, tolerability, and efficacy of PBT2 in Huntington's disease: a phase 2, randomised, double-blind, placebo-controlled trial. The Lancet Neurology. (1): 39-47

Kim JI, Long JD, Mills JA, Downing N, Williams JK, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group (2015) Performance of the 12-item WHODAS 2.0 in prodromal Huntington disease. European Journal of Human Genetics Nov;23(11):1584-7

Sturrock A, Laule C, Wyper K,, Milner RA, Decolongon, Dar Santos R, Coleman AJ, Carter K, Creighton S, Bechtel N, Bohlen S, Reilmann R, Johnson HJ, Hayden MR, Tabrizi SJ, Mackay AL, Leavitt BR (2015) A longitudinal study of magnetic resonance spectroscopy Huntington's disease biomarkers. Movement Disorders. 30(3): 393–401

Callaghan J, Stopford C, Arran N, Boisse MF, Coleman A, Santos RD, Dumas EM, Hart EP, Justo D, Owen G, Read J, Say MJ, Durr A, Leavitt BR, Roos RA, Tabrizi SJ, Bachoud-Levi AC, Bourdet C, van Duijn E, Craufurd D (2015) Reliability and Factor Structure of the Short Problem Behaviors Assessment for Huntington's Disease (PBA-s) in the TRACK-HD and REGISTRY studies. Journal of Neuropsychiatry and Clinical Neuroscience. 27(1): 59-64

Wild EJ, Boggio R, Langbehn D, Robertson N, Haider S, Miller JR, Zetterberg H, Leavitt BR, Kuhn R, Tabrizi SJ, Macdonald D, Weiss A (2015) Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. Journal of Clinical Investigation. 125(5): 1979-86

Howard AK, Krishnamoorthy A, Leavitt BR, Raymond LA, Weissman CR (2015) Treatment of Huntington Disease and Comorbid Trichotillomania With Aripiprazole. Journal of Neuropsychiatry and Clinical Neuroscience 27(3):211-2

Kim JI, Long JD, Mills JA, McCusker E, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group (2015) Multivariate clustering of progression profiles reveals different depression patterns in prodromal Huntington disease. Neuropsychology Nov;29(6):949-60

Jan A, Karasinska JM, Kang MH, de Haan W, Ruddle P, Kaur A, Connolly C, Leavitt BR, Sorensen PH, Hayden MR (2015) Direct intracerebral delivery of a miR-33 antisense oligonucelotide into mouse brain increases brain ABCA1 expression. Neuroscience Letters. 26(598): 66-72

Southwell AL, Smith SE, Davis TR, Caron NS, Villanueva EB, Xie Y, Collins JA, Li Ye M, Sturrock A, Leavitt BR, Schrum AG, Hayden MR (2015) Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression. Nature: Scientific Reports (5):12166

Plecash A, Coleman A, Leavitt BR (2015) Feasibility and Safety of an Aquatherapy Program in Mid- to Late-Stage Huntington Disease. International Journal of Neurorehabilitiation 2: 181

Klöppel S, Gregory S, Scheller E, Minkova L, Razi A, Durr A, Roos RA, Leavitt BR, Papoutsi M, Landwehrmeyer GB, Reilmann R, Borowsky B, Johnson H, Mills JA, Owen G, Stout J, Scahill RI, Long JD, Rees G, Tabrizi SJ; Track-On investigators (2015) Compensation in Preclinical Huntington's Disease: Evidence From the Track-On HD Study. BioMedicine. 4;2(10): 1420-9

Johnson EB, Rees EM, Labuschagne I, Durr A, Leavitt BR, Roos RA, Reilmann R, Johnson H, Hobbs NZ, Langbehn DR, Stout JC, Tabrizi SJ, Scahill RI (2015) The impact of occipital lobe cortical thickness on cognitive task performance: An investigation in Huntington's Disease. Neuropsychologia. 79(Pt A):138-46

Minkova L, Scheller E, Peter J, Abdulkadir A, Kaller CP, Roos RA, Durr A, Leavitt BR, Tabrizi SJ, Klöppel S; TRACK-ON HD Investigators (2015) Detection of Motor Changes in Huntington's Disease Using Dynamic Causal Modeling. Frontiers in Human Neuroscience 9:634

Wagner L, Wolf R, Zeitschel U, Rossner S, Petersén Å, Leavitt BR, Kästner F, Rothermundt M, Gärtner UT, Gündel D, Schlenzig D, Frerker N, Schade J, Manhart S, Rahfeld JU, Demuth HU, von Hörsten S (2015) Proteolytic degradation of neuropeptide Y (NPY) from head to toe: Identification of novel NPY-cleaving peptidases and potential drug interactions in CNS and Periphery. Journal of Neurochemistry. 135(5): 1019-37


Fisher ER and Hayden MR (2014) Multi-source ascertainment of Huntington disease in Canada: prevalence and population at risk. Movement Disorders Jan;29(1):105-14

Ehrnhoefer DE, Skotte NH, Ladha S, Nguyen YT, Qiu X, Deng Y, Huynh KT, Engemann S, Nielsen SMB, Becanovic K, Leavitt BR, Hasholt L, Hayden MR (2014) p53 Increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin. Human Molecular Genetetics Feb 1;23(3):717-29.

Ross CA, Aylward EH, Wild EJ, Langbehn DR, Long JD, Warner JH, Scahill RI, Leavitt BR, Stout JC, Paulsen JS, Reilmann R, Unschuld PG, Wexler A, Margolis RL, Tabrizi SJ (2014) Huntington disease: natural history, biomarkers and prospects for therapeutics. Nature Reviews: Neurology 10(4): 204-16

Saft C, Leavitt BR, Epplen JT (2014) Clinical utility gene card for: Huntington's disease. European Journal of Human Genetics 22(5)

Jones R, Stout JC, Labuschagne I, Say M, Justo D, Coleman A, Dumas EM, Hart E, Owen G, Durr A, Leavitt BR, Roos R, O'Regan A, Langbehn D, Tabrizi SJ, Frost C (2014) The potential of composite cognitive scores for tracking progression in Huntington's disease. Journal of Huntington’s Disease 3(2): 197-207.

Plecash AR, Leavitt BR (2014) Aquatherapy for neurodegenerative disorders. Journal of Huntington’s Disease (Invited review) 3(1): 5-11

Downing NR, Kim JI, Williams JK, Long JD, Mills JA, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group (2014) WHODAS 2.0 in prodromal Huntington disease: measures of functioning in neuropsychiatric disease.  European Journal of Human Genetetics Aug;22(8):958-63

Kostro D, Abdulkadir A, Durr A, Roos R, Leavitt BR, Johnson H, Cash D, Tabrizi SJ, Scahill RI, Ronneberger O, Klöppel S; Track-HD Investigators (2014) Correction of inter-scanner and within-subject variance in structural MRI based automated diagnosing. Neuroimage. 98: 405-15

Long JD, Paulsen JS, Marder K, Zhang Y, Kim JI, Mills JA; Researchers of the PREDICT-HD Huntington's Study Group. (2014) Tracking motor impairments in the progression of Huntington's disease. Movement Disorders, Mar;29(3):311-319

Reilmann R, Leavitt BR, Ross C (2014) Huntington's disease: A field on the move. Movement Disorders (Invited review) 29(11): 1333-4.

Reilmann R, Leavitt BR, Ross CA (2014) Diagnostic criteria for Huntington's disease based on natural history. Movement Disorders (Invited review) 29(11): 1335-41

Paulsen JS, Long JD, Ross CA, Harrington DL, Erwin CJ, Williams JK, Westervelt HJ, Johnson HJ, Aylward EH, Zhang Y, Bockholt HJ, Barker RA; PREDICT-HD Investigators and Coordinators of the Huntington Study Group (2014) Prediction of manifest Huntington's disease with clinical and imaging measures: a prospective observational study. Lancet Neurology Dec;13(12):1193-2201


Baine FK, Kay C, Ketelaar ME, Collins JA, Semaka A, Doty CN, Krause A, Greenberg JL, Hayden MR. Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes. Eur J Hum Genet 2013 Feb 25

Biglan KM, Zhang Y, Long JD, Geschwind M, Kang GA, Killoran A, Lu W, McCusker E, Mills JA, Raymond LA, Testa C, Wojcieszek J, Paulsen JS and the PREDICT-HD Investigators of the Huntington Study Group. (2013) Refining the diagnosis of Huntington disease: The PREDICT-HD study.  Frontiers in Aging Neuroscience. 5:1-8.

PREDICT-HD Investigators and  Coordinators of the Huntington Study Group (2013) Cognitive reserve and brain reserve in prodromal Huntington's Disease. Journal of the International Neuropsychological Society Journal of International Neuropsychology Society

Brunham LR, Hayden MR. Hunting human disease genes: lessons from the past, challenges for the future.  Hum Genet. 2013 132(6):603-17

Marder K, Gu Y, Eberly S, Tanner CM, Scarmeas N, Oakes D, Shoulson I; Huntington Study Group PHAROS Investigators. (2013) Relationship of Mediterranean diet and caloric intake to phenoconversion in Huntington disease. JAMA Neurology 70(11):1382-8

PREDICT-HD Investigators and Coordinators of the Huntington Study Group (2013) Characterization of depression in prodromal Huntington disease in the neurobiological predictors of HD (PREDICT-HD) study. Journal of Psychiatric Research 47(10):1423-31.

Epping EA, Mills JA, Beglinger LJ, Fiedorowicz JG, Craufurd D, Smith MM, Groves M, Bijanki KR, Downing N, Williams JK, Long JD, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. (2013) Characterization of depression in prodromal Huntington disease in the neurobiological predictors of HD (PREDICT-HD) study. Journal of Psychiatric Research, 47(10):1423-31

Franciosi S, Shim Y, Lau M, Hayden MR, Leavitt B (2013) A systematic review and meta-analysis of clinical variables used in Huntington disease research Movement Disorders Dec;28(14):1987-94

Hawkins AK, Creighton S, Hayden MR. When Access is an Issue: Exploring Barriers to Predictive Testing for Huntington Disease in British Columbia, Canada. European Journal of Human Genetics. 2013 21(2):148-53

Hawkins Virani A, Creighton S, Hayden MR Developing a Comprehensive, Effective Patient Friendly Website to Enhance Decision-Making in Predictive Testing for Huntington Disease.Genet Med. 2013 15(6):466-72

Houge G, Bruland O, Bjørnevoll I, Hayden MR, Semaka A. De novo huntington disease caused by 26-44.  Cag repeat expansion on a low-risk haplotype. Neurology. 2013 Sep 17;81(12):1099-100

Marco S, Giralt A, Petrovic MM, Pouladi MA, Martínez-Turrillas R, Martínez-Hernández J, Kaltenbach L, Torres-Peraza J, Graham RK, Watanabe M, Luján R, Nakanishi N, Lipton SA, Lo DC Hayden MR, Alberch,J, Wesseling JF , Pérez-Otaño I (2013) Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models. Nature Medicine 19(8):1030-8.

Milnerwood AJ*, Parsons MP*, Young FB, Singaraja R, Franciosi S, Volta M, Bergeron S, Hayden MR, Raymond LA (2013)  Memory and synaptic deficits in Hip 14/DHHC17 of knockout mice. Proceedings of the National Academy of Sciences of the USA.  Dec 10;110(50):20296-301

Oestergaard M, Southwell A, Kordasiewicz H, Watt A, Skotte N, Doty C, Vaid K, Villanueva E, Swayze E, Bennett CF, Hayden M, Seth P. Rational Design of Antisense Oligonucleotides Targeting Single Nucleotide Polymorphisms for Potent and Allele Selective Suppression of Mutant Huntingtin in the CNS. Nucleic Acids Research. 2013 Nov;41(21):9634-50

Pouladi MA, Morton J, Hayden MR. Choosing an animal model for the study of Huntington's disease. Nat Rev Neurosci. 2013 (14) 708-721.

Ramos EM, Latourelle JC, Gillis  T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Gellera G, Hayden MR Morrison  PJ, Nance  M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T,  Frank S, Saint-Hilaire MH, Hersch  SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, MacDonald ME. Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset. Neurogenetics  2013 Nov;14(3-4):173-9

 Semaka A, Balneaves LG, Hayden MR.Grasping the Grey": Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease. J Genet  Counsel. 2013. 22(2):200-17 

Semaka A, Kay C, Doty C, Collins J, Tam N, Hayden MR. High Frequency of Intermediate Alleles on Huntington Disease-Associated Haplotypes in British Columbia’s General Population. AMJG Part B Neuropsychiatric Genetics. 2013 Aug 30. [Epub ahead of print]

Semaka A, Kay C, Doty C, Collins JA, Bijlsma EK, Richards F, Goldberg YP, Hayden MR.CAG-size specific risk estimates for intermediate allele repeat instability in Huntington disease. J Med Genet 2013 Jul 29. [Epub ahead of print].

Southwell AL, Warby SC, Carroll JB, Doty CN, Skotte NH, Zhang W, Villanueva EB, Kovalik V, Xie Y, Pouladi MA, Collins JA, Yang XW, Franciosi SF, Hayden MR (2013)A fully humanized transgenic mouse model of Huntington disease. Human Molecular Genetics 1;22(1):18-34. In Brief:  Genetics: Fully humanized mouse model of Huntington disease. Nature Review Neurology 8, 594 (2012)/qwe456

Stanek LM, Yang W, Angus S, Sardi PS, Hayden MR, Hung GH, Bennett CF, Cheng SH, Shihabuddin LS.  Antisense oligonucleotide-mediated correction of transcriptional dysregulation is correlated with behavioral benefits in the YAC128 mouse model of Huntington's disease. Journal of Huntingtons Disease  2 (2013) 217–228

Sutton LM, Sanders SS, Butland SL, Singaraja RR, Franciosi S, Southwell AL, Doty CN, Schmidt ME, MuiKKN,  Kovalik V, Young FB, Zhang W, Hayden MR. Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease. Human Molecular Genetics 2013 22(3):452-65

van Raam BJ, Ehrnhoefer DE, Hayden MR. Salvesen GC.Intrinsic cleavage of receptor-interacting protein kinase-1 by caspase-6. Cell Death Differ. 2013. 20(1):86-96

HORIZON Investigators of the Huntington Study Group and European Huntington's Disease Network (2013) A randomized, double-blind, placebo-controlled study of latrepirdine in patients with mild to moderate Huntington disease. JAMA Neurology Jan;70(1):25-33

Bonner-Jackson A, Long JD, Westervelt H, Tremont G, Aylward E, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. (2013) Cognitive reserve and brain reserve in prodromal Huntington's Disease. Journal of International Neuropsychology Society, 19(7):739-50

Dorsey ER, Beck CA, Darwin K, Nichols P, Brocht AF, Biglan KM, Shoulson I; Huntington Study Group COHORT Investigators. (2013) Natural history of Huntington disease. JAMA Neurology 70(12):1520-30

Bombard Y, Palin J, Friedman JM, Veenstra G, Creighton S, Bottorff JL, Hayden MR (2012)The Canadian Respond-HD Collaborative Research Group. Beyond the patient:  The broader impact of genetic discrimination among individuals at risk of Huntington disease. American Journal of Medical Genetics: Neuropsychiatric Genetics 159B(2):217-226.

Brossman B, Williams JK, Downing N, Mills JA, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. (2012) Development of the Huntington disease work function scale. Journal of Occupational and Environmental Medicine. 54(10):1300-8

Franciosi S, Ryu JK, Shim Y, Hill A, Connolly C, Hayden MR, McLarnon JG, Leavitt BR. Age-Dependent Neurovascular Abnormalities and Altered Microglial Morphology in the YAC128 Mouse Model of Huntington Disease. Neurobiol Dis. 2012. 45(1):438-49. PMID:21946335

Graham RK, Deng Y,  Pouladi MAP, Vaid KV, Ehrnhoefer DR, Southwell A, Bissada N, Franciosi S, Hayden MR. Caspase-6-resistant mutant huntingtin does not rescue the toxic effects of caspase-cleavable mutant huntingtin in vivo. J Huntingtons Dis.  2012; 1 (2): 243-260

Harrington DL, Smith MM, Zhang Y, Carlozzi NE, Paulsen JS; the PREDICT-HD Investigators of the Huntington Study Group. (2012) Cognitive domains that predict time to diagnosis in prodromal Huntington disease. Journal of Neurology. Neurosurgery and Psychiatry

Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.  Am J Hum Genet. 2012. 90(3):434-44 PMID:22387017

Lee JH, Lee JM, Ramos EM, Gillis T, Mysore JS, Kishikawa S, Hadzi T, Hendricks AE, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RJ, Squitieri F, Gellera C, Gomez-Tortosa E, Ayuso C, SuchowerskyO, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH,  Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, Bernhard G, Landwehrmeyer GB on behalf of the Registry Study of the European Huntington's Disease Network,  Shoulson I on behalf of the Huntington Study Group COHORT project,  Myers RH, MacDonald ME, and GusellaJF. TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington’s disease. Biochem Biophys Res Commun. 2012. 3;424(3):404-408. PMID: 22771793

Lee JM, Ramos EM, LeeJ-H, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison P, Nance M, Ross CA,  Margolis, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent  RJA, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson R, Marder K, Sequeiros J, Paulsen JS, Landwehrmeyer GB, Myers RH, MacDonald ME, Gusella JF. (2012) CAG repeat expansion in Huntington's disease determines age at onset in a fully dominant fashion. Neurology. 78(10):690-695

Long JD, Matson WR, Juhl AR, Leavitt BR, Paulsen JS; the PREDICT-HD Investigators and Coordinators of the Huntington Study Group. (2012) 8OHdG as a marker for Huntington disease progression. Neurobiology of Disease. Jun;46(3):625-34

Huntington Study Group COHORT Investigators, Dorsey E. (2012) Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study. PLoS One, 7(2):e29522

Pouladi MA, Brillaud E, Xie Y, Conforti P, Graham RK, Ehrnhoefer DE, Franciosi S, Zhang W, Poucheret P, Compte E, Maurel JC, Zuccato C, Cattaneo E, Néri C, Hayden MR.  NP03, a novel low-dose lithium formulation, is neuroprotective in the YAC128 mouse model of Huntington disease. Neurobiol Dis. 2012. 10;48(3):282-289.PMID:22796360

Pouladi MA, Stanek LM, Xie Y, Franciosi S, Southwell AL, Deng Y, Butland S, Zhang WN, Cheng SH, Shihabuddin LSHayden MR. Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice. Hum Mol Genet. 2012.  21(10):2219-32. PMID:22328089

Ramos EM, Latourelle JC, Lee JH, Gillis T, Mysore JS, Squitieri F, Di Pardo A, Di Donato S, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Marder K, Gusella JF, Lee JM, Alonso I, Sequeiros J, Myers RH, Macdonald ME. Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset. Hum Genet. 2012. 131(12):1833-40. PMID:22825315

Rowe KC, Paulsen JS, Langbehn DR, Wang C, Mills J, Beglinger LJ, Smith MM, Epping EA, Fiedorowicz JG, Duff K, Ruggle A, Moser DJ; The PREDICT-HD Investigators of the Huntington Study Group. (2012) Patterns of serotonergic antidepressant usage in prodromal Huntington disease. Psychiatry Research. Apr 30;196(2-3):309-14

Smith MM, Mills JA, Epping EA, Westervelt HJ, Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group. (2012) Depressive symptom severity is related to poorer cognitive performance in prodromal Huntington disease. Neuropsychology. 26(5):664-9

Strong MK, Southwell AL, Yonan JM, Hayden MR, Macgregor GR, Thompson LM, Steward O (2012) Age-Dependent Resistance to Excitotoxicity in Htt CAG140 Mice and the Effect of Strain Background. Journal of Huntingtons Disease 1(2):221-241

Southwell AL, Skotte NH, Bennet CF, Hayden MR. Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases. Trends Mol Med. 2012 18(11):634-43. PMID:23026741

Uribe V, Wong B,  Graham RK, Cusack CL, Skotte NH, Pouladi MA, Xie Y, Feinberg K, Ou Y, Ouyang Y, Deng Y, Franciosi S, Bissada N, Spreeuw A, Zhang W, Ehrnhoefer DE, Vaid K, Miller FD, Deshmukh M, Howland D, Hayden MR. Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6 deficient mice. Hum Mol Genet. 2012. 1;21(9):1954-67 PMID: 22262731

Waldron-Roby E, Ratovitski T, Wang X, Jiang M, Watkin E, Arbez N, Graham RK, Hayden MR, Hou Z, Mori S, Swing D, Pletnikov M, Duan W, Tessarollo L, Ross CA.  Transgenic Mouse Model Expressing the Caspase 6 Fragment of Mutant Huntingtin.  J Neurosci. 2012 32(1):183-193. PMID:22219281

 Young FB, Butland SL, Sanders SS, Sutton LM, Hayden MR (2012) Putting proteins in their place: Palmitoylation in Huntington disease and other neuropsychiatric diseases. Progress in Neurobiology 97(2):220-38. Review

Aylward EH, Liu D, Nopoulos PC, Ross CA, Pierson RK, Mills JA, Long JD, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. (2011) Striatal volume contributes to the prediction of onset of Huntington disease in incident cases.  Biological Psychiatry 71:822-8

 

Aylward EH, Nopoulos PC, Ross CA, Langbehn DR, Pierson RK, Mills JA, Johnson HJ, Magnotta VA, Juhl AR, Paulsen JS; PREDICT-HD Investigators and Coordinators of Huntington Study Group. (2011) Longitudinal change in regional brain volumes in prodromal Huntington disease. J Neurol Neurosurg Psychiatry, 82(4):405-410.

Carlozzi NE, Stout JC, Mills JA, Duff K, Beglinger LJ, Aylward EH, Whitlock KB, Solomon AC, Queller S, Langbehn DR, Johnson SA, Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group. (2011) Estimating premorbid IQ in the prodromal phase of a neurodegenerative disease. Clin Neuropsychol, 25(5):757-777.

Carroll JB, Lerch JP, Franciosi S, Spreeuw A, Bissada N, Henkelman RM, Hayden MR (2001) Natural history of disease in the YAC128 mouse defines a discrete signature of pathology in Huntington Disease. Neurobiology of Disease 43(1):257-65 PMID: 21458571

Carroll JB; Southwell AL; Graham RK; Lerch JP; Ehrnhoefer DE; Cao LP; Zhang WN; Deng Y; Bissada N; Henkelman RM; Hayden MR. Mice lacking caspase-2 are protected from behavioral changes, but not pathology, in the YAC128 model of Huntington Disease. Mol Neurodegener. 2011. 6(1):59 PMID:21854568

Carroll JB; Warby SC; Southwell AL; Doty CN; Greenlee S; Skotte N; Hung G; Bennett CF; Freier SM; Hayden MR. Potent and selective antisense oligonucleotides targeting single nucleotide polymorphisms in the Huntington disease gene. Mol Ther. 2011 Oct 4. [Epub ahead of print] PMID:21971427

Dumas EM, van den Bogaard SJ, Ruber ME, Reilman RR, Stout JC, Craufurd D, Hicks SL, Kennard C, Tabrizi SJ, van Buchem MA, van der Grond J, Roos RA, TRACK-HD Study Group. (2011) Early changes in white matter pathways of the sensorimotor cortex in premanifest Huntington's disease. Hum Brain Mapp. 2011 Jan 24.

Ehrnhöfer DE, Skotte NH, Savill J, Ladha S, Cao LP, Nguyen YTN, Dullaghan E, Hayden MR. A quantitative method for the specific assessment of caspase-6 activity in cell culture. PLoS One. 2011,6(11):e27680. PMID:22140457

Ehrnhoefer DE, Sutton L, Hayden MR. Small Changes, Big Impact: Posttranslational Modifications and Function of Huntingtin in Huntington Disease. Neuroscientist. 2011. 17(5):475-92 PMID:21311053

Ehrnhoefer DE; Wong BKY; Hayden MR. Convergent pathogenic pathways in Alzheimer’s and Huntington’s diseases: shared targets for drug development. Nat Rev Drug Discov. 2011. 10(11):853-67. PMID:22015920

Ehrnhoefer DE; Wong BKY; Hayden MR. (2011) Convergent pathogenic pathways in Alzheimer’s and Huntington’s diseases: shared targets for drug development. Nature Rev Drug Discov, 10(11):853-67.

Fiedorowicz JG, Mills JA, Ruggle A, Langbehn D, Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group. (2011) Suicidal behavior in prodromal Huntington disease. Neurodegener Dis, 8(6):483-90.

Graham RK; Ehrnhoefer D; Hayden MR. Caspase-6 and neurodegeneration. Trends Neurosci. 2011.  34(12):646-56. PMID:22018804

Hawkins AK, Hayden MR. A Grand Challenge: Providing Benefits of Clinical Genetics to Those in Need. Genetics in Medicine. 2011. 13(3):197-200 PMID: 21283011

Hawkins, AK; Ho A; Hayden MR. Lessons from Predictive testing for HD - 25 Years On. Journal of Medical Genetics 2011. 48(10):649-50.  PMID:21931167

Hobbs NZ, Pedrick AV, Say MJ, Frost C, Dar Santos R, Coleman A, Sturrock A, Craufurd D, Stout JC, Leavitt BR, Barnes J, Tabrizi SJ, Scahill RI. (2011) The structural involvement of the cingulated cortex in premanifest and early Huntington disease.  Mov Disord. Aug 1;26(9):1684-90. Epub 2011 May 6.

Huang K, Sanders S, Kang R, Wan J, Singaraja R, Young F, Liu L, Davis N, Hayden MR. Wildtype HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14. Hum Mol Genet. 2011. 20(17):3356-65 PMID:21636527

Karasinska  J, Hayden MR. Cholesterol metabolism in Huntington disease. Nat Rev Neurol. 2011. 7(10):561-72 PMID:21894212

Ketelaar ME, Hofstra RM, Hayden MR. (2011) What Monozygotic Twins Discordant for Phenotype Illustrate about Mechanisms Influencing Genetic Forms of Neurodegeneration. Clin Genet. 2011 Oct 7 [Epub ahead of print]

Nopoulos PC, Aylward EH, Ross CA, Mills JA, Langbehn DR, Johnson HJ, Magnotta VA, Pierson RK, Beglinger LJ, Nance MA, Barker RA, Paulsen JS; PREDICT-HD Investigators and Coordinators of the Huntington Study Group. (2011) Smaller intracranial volume in prodromal Huntington’s disease:  Evidence for abnormal neurodevelopment. Brain,134 (Pt 1):137-142.

O'Rourke JJF, Beglinger LJ, Smith MM, Mills J, Moser DJ, Rowe KC, Langbehn DR, Duff K, Stout JC, Harrington DL, Carlozzi N, Paulsen JS, & the PREDICT-HD Investigators of the Huntington Study Group. (2011) The Trail Making Test in prodromal Huntington disease: Contributions of disease progression to test performance. J Clin Exp Neuropsychology, Feb 7

Say MJ, Jones R, Scahill RI, Dumas EM, Coleman A, Santos RC, Justo D, Campbell JC, Queller S, Shores EA, Tabrizi SJ,  Queller S, Shores EA, Tabrizi SJ, Stout JC; TRACK-HD Investigators. (2011) Visuomotor integration deficits precede clinical onset in Huntington's disease. Neuropsychologia. Jan;49(2):264-70.

Scahill RI, Hobbs NZ, Say MJ, Bechtel N, Henley SM, Hyare H, Langbehn DR, Jones R, Leavitt BR, Roos RA, Durr A, Johnson H, Lehéricy S, Craufurd D, Kennard C, Hicks SL, Stout JC, Reilmann R, Tabrizi SJ; the TRACK-HD investigators. (2011) Clinical impairment in premanifest and early Huntington’s disease is associated with regionally specific atrophy.  Hum Brain Mapp. Nov 18. [Epub ahead of print]

Singaraja RR, Huang K, Wan J, Milnerwood A, Hines R, Lerch J, Sanders S, Franciosi S, Drisdel R, Vaid K, Gan L, Doty C, Bissada N, Henkelman RM, Green WN, Raymond LA, Davis NG, Hayden MR. Altered palmitoylation and neuropathological deficits in mice lacking HIP14. Hum Mol Genet. 2011. 20(20):3899-909 PMID:21775500

Song W, Chen J, Petrilli A, Liot G, Klinglmayr E, Zhou Y, Poquiz P, Tjong J, Pouladi MA, Hayden MR, Masliah E, Ellisman M, Rouiller I, Schwarzenbacher R, Bossy B, Perkins G, Bossy-Wetzel E. Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity. Nat Med. 2011. 17(3):377-82 PMID: 21336284

Stout JC; TRACK-HD Investigators. (2011) Visuomotor integration deficits precede clinical onset in Huntington's disease. Neuropsychologia. Jan;49(2):264-70.

Tabrizi SJ, Scahill RI, Durr A, Roos RA, Leavitt BR, Jones R, Landwehrmeyer GB, Fox NC, Johnson H, Hicks SL, Kennard C, Craufurd D, Frost C, Langbehn DR, Reilmann R, Stout JC; TRACK-HD Investigators. (2011) Biological and clinical changes in premanifest and early stage Huntington’s disease in the TRACK-HD study: the 12-month longitudinal analysis. Lancet Neurol. Jan;10(1):31-42. Epub 2010 Dec 2.

Vaccarino AL, Anderson K, Borowsky B, Duff K, Giuliano J, Guttman M, Ho AK, Orth M, Paulsen JS, Sills T, van Kammen DP, Evans KR; PREDICT-HD and REGISTRY Investigators Coordinators. (2011) An item response analysis of the motor and behavioral subscales of the Unified Huntington Disease Rating Scale in Huntington disease gene expansion carriers. Movement Disorders, 26:877-884.

Warby SC, Visscher H, Collins JA, Doty CN, Carter C, Butland SL, Hayden AR, Kanazawa I, Ross CJ, Hayden MR. HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet. 2011. 19(5):561-6 PMID:21248742

Weir DW, Sturrock A, Leavitt BR. (2011). Development of biomarkers for Huntington's disease. Lancet Neurology. Jun;10(6):573-90.

Young FB; Butland SL; Sanders SS; Sutton LM; Hayden MR. (2011) Putting proteins in their place: Palmitoylation in Huntington disease and other neuropsychiatric diseases. Prog Neurobiol, Dec 7. [Epub ahead of print]

Zhang Y, Long JD, Mills JA, Warner JH, Lu W, Paulsen JS; the PREDICT-HD Investigators and Coordinators of the Huntington Study Group. (2011) Indexing disease progression at study entry with individuals at-risk for Huntington disease. Am J Med Genet B Neuropsychiatr Genet, 156(7):751-763.

Becanovic K, Pouladi M, Lim RS, Khun A, Pavlidis P, Luthi-Carter R, Hayden MR, Leavitt BR. (2010) Transcriptional changes in Huntington Disease identified using genome-wide expression profiling and cross platform analysis. Hum Mol Genet. Jan 20.

Bechtel N, Scahill RI, Rosas HD, Acharya T, van den Bogaard SJ, Jauffret C, Say MJ, Sturrock A, Johnson H, Onorato CE, Salat DH, Durr A, Leavitt BR, Roos RA, Landwehrmeyer GB, Langbehn DR, Stout JC, Tabrizi SJ, Reilmann R (2010) Tapping linked to function and structure in premanifest and symptomatic Huntington disease. Neurology 75(24):2142-2143.

 

Duff K, Paulsen JS, Beglinger LJ, Langbehn DR, Wang C, Stout JC, Ross CA, Aylward E, Carlozzi NE, Queller S, Predict-HD Investigators of the Huntington Study Group (2010) “Frontal” behaviors before the diagnosis of Huntington's disease and their relationship to markers of disease progression: evidence of early lack of awareness. The Journal of Neuropsychiatry and Clinical Neurosciences 22(2):196-207.

Duff K, Paulsen J, Mills J, Beglinger LJ, Moser DJ, Smith MM, Langbehn D, Stout J, Queller S, Harrington DL, PREDICT-HD Investigators, Coordinators of the Huntington Study Group. Mild cognitive impairment in prediagnosed Huntington disease. Neurology 75(6):500-7.

Erwin C, Williams JK, Juhl AR, Mengeling M, Mills JA, Bombard Y, Hayden MR, Quaid K, Shoulson I, Taylor S, Paulsen JS; I-RESPOND-HD Investigators of the Huntington Study Group. (2010) Perception, experience, and response to genetic discrimination in Huntington disease:  the international RESPOND-HD study. American Journal of Medical Genetics B, 153B(5):1081-1093.

Huntington Study Group DOMINO Investigators (2010) A Futility Study of Minocycline in Huntington’s Disease. Movement Disorders 25(13):2219-2224. CI

 

Milnerwood AJ and Raymond LA. (2010) Early synaptic pathophysiology in neurodegeneration:  Insights from Huntington’s disease. Trends in Neuroscience, 33:513-523.

 

Nopoulos PC, Aylward EH, Ross CA, Johnson HJ,  Magnotta VA, Juhl AR, Pierson RK, Mills J, Langbehn DR, Paulsen JS, PREDICT-HD Investigators, Coordinators of the Huntington Study Group (2010) Cerebral cortex structure in prodromal Huntington disease. Neurobiology of Disease 40(3):544–554.

Paulsen JS, Nopoulos PC, Aylward E, Ross CA, Johnson H, Magnotta VA, Juhl A, Pierson RK, Mills J, Langbehn D, Nance M, PREDICT-HD Investigators, Coordinators of the Huntington's Study Group (2010) Striatal and white matter predictors of estimated diagnosis for Huntington disease. Brain Research Bulletin 82(3-4):201-207.

Paulsen SJ, Wang C, Duff K, Barker R, Nance M, Beglinger L, Moser D, Williams JK, Simpson S, Langbehn D,  van Kammen DP, PREDICT-HD Investigators of the Huntington Study Group (2010) Challenges Assessing Clinical Endpoints in Early Huntington Disease. Movement Disorders 25(15):2595–2603.

 

Quaid KA, Swenson MM, Sims SL, Harrison JM, Moskowitz C, Stepanov N, Suter GW, Westphal BJ, Huntington Study Group PHAROS Investigators and Coordinators (2010) What were you thinking?: Individuals at risk for Huntington Disease talk about having children. Journal of Genetic Counseling 19(6):606-17.

Soneson C, Fontes M, Zhou Y, Denisov V, Paulsen JS, Kirik D, Petersén A, PREDICT-HD Investigators of the Huntington Study Group (2010) Early changes in the hypothalamic region in prodromal Huntington disease revealed by MRI analysis. Neurobiology of Disease 40(3):531–543.

Sturrock A, Laule C, Decolongon J, Dar Santos R, Coleman AJ, Creighton S, Bechtel N, Reilmann R, Hayden MR, Tabrizi SJ, Mackay AL, Leavitt BR. (2010) Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington disease. Neurology, Nov 9;75(19):1702-10. Erratum in: Neurology. 2011 Jan 18;76(3):309.

Sturrock A, Leavitt BR. (2010) The clinical and genetic features of Huntington disease. J Geriatr Psychiatry Neurol. Dec;23(4):243-59.

 

Sturrock A, Laule C, Decolongon J, Coleman AJ, Creighton S, Bechtel N, Reilmann R, Hayden MR, Tabrizi SJ, MacKay AL, Leavitt BR (2010) Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington Disease. Neurology 75(19):1702-1710.

 

van den Bogaard SJ, Dumas EM, Acharya TP, Johnson H, Langbehn DR, Scahill RI, Tabrizi SJ, van Buchem MA, van der Grond J, Roos RA; TRACK-HD Investigator Group. (2010) Early atrophy of pallidum and accumbens nucleus in Huntington's disease. J Neurol. Oct 9. [Epub ahead of print]

 

Biglan, K.M., Ross, C.A., Langbehn, D.R., Aylward, E.H., Stout, J.C., Queller, S., Carlozzi, N.E., Duff, K., Beglinger, L.J., Paulsen, J.S. and the PREDICT-HD Investigators of the Huntington Study Group. (2009) Motor Abnormalities in Premanifest Persons with Huntington’s Disease: The PREDICT-HD Study. Movement Disorders, 24(12):1763-1772.

 

Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS, Bottorff JL, Hayden MR. Perceptions of genetic discrimination among persons at-risk for huntington disease: Cross-Sectional Survey. BMJ. 2009.  9;338:b2175 PMID: 19509425

 

Fang Q, Strand A, Law W, Faca VM, Fitzgibbon MP, Hamel H, Houle B, Liu X, May DH, Poschmann G, Roy L, Stühler D, Ying W, Zhang J, Zheng Z, Bergeron JJ, Hanash S, He F, Leavitt BR, Meyer HE, Qian X, McIntosh MW (2009) Brain-specific Proteins Decline in the Cerebrospinal Fluid of Humans with Huntington's Disease. Molecular and Cellular Proteomics 8(3):451-66.

Hayden MR, Leavitt BR, Yasothan U, Kirkpatrick P. Tetrabenazine. Nat Rev Drug Discov. 2009. 8(1):17-8. PMID: 19116624

Kloppel, S., Chu, C., Tan, G.C., Draganski, B., Johnson, H., Paulsen, J.S., Kienzle, W., Tabrizi, S.J., Ashburner, J., Frackowiak, R.S.J., and the PREDICT-HD Investigators of the Huntington Study Group. (2009) Automatic detection of preclinical neurodegeneration. Neurology, 72:426-431.

Langbehn DR, Hayden MR, Paulsen JS; and the PREDICT-HD Invesitgators of the Huntington Study Group. CAG-repeat length and the age of onset in Huntington disease (HD): A review and validation study of statistical approaches. Am J Med Genet B Neuropsychiatr Genet. 2009. 153B(2):397-408. PMID: 19548255

Marder K, Zhao H, Eberly S, Tanner CM, Oakes D, Shoulson I, Huntington Study Group PHAROS investigators (2009) Dietary intake in adults at risk for Huntington disease: analysis of PHAROS research participants. Neurology 73(5):385-392.

Mazarei G, Neal SJ, Becanovic K, Luthi-Carter R, Simpson EM, Leavitt BR (2009) Expression analysis of novel striatal-enriched genes in Huntington disease. Hum Mol Genet Nov 23.

Semaka A, Collins J, Hayden MR. Unstable Familial Transmissions of Huntington Disease Alleles With 27 35 CAG Repeats (Intermediate Alleles). Am. J Med Genet Part B. 2009. 153B(1):314-20. PMID: 19455596 

Tabrizi SJ, Langbehn DR, Leavitt BR, Roos RA, Durr A, Craufurd D, Kennard C, Hicks SL, Fox NC, Scahill RI, Borowsky B, Tobin AJ, Rosas HD, Johnson H, Reilmann R, Landwehrmeyer B, Stout JC, the TRACK-HD Investigators (2009) Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. The Lancet Neurology 8(9):791-801.

Warby SC, Montpetit A, Hayden A, Carroll JB, Collins J, Butland SL, Visscher H, Semaka A, Hudson TJ, Hayden MR. CAG-expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet. 2009. 84(3):351-66 PMID:19249009

 

Björkqvist M, Wild EJ, Thiele J, Silvestroni A, Andre R, Lahiri N, Raibon E, Lee RV, Benn CL, Soulet D, Magnusson A, Woodman B, Landles C, Pouladi MA, Hayden MR, Khalili-Shirazi A, Lowdell MW, Brundin P, Bates GP, Leavitt BR, Möller T, Tabrizi SJ. (2008) A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease. J Exp Med. 205(8):1869-77

Bombard Y, Penziner E, Suchowersky O, Guttman M, Paulsen JS, Bottofff JL, Hayden MR. (2008) Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease. Eur J Hum Genet. 16(3):279-89

 

Dorsey ER, Beck CA, Adams M, Chadwick G, de Blieck EA, McCallum C, Briner L, Deuel L, Clarke A, Stewart R, Shoulson I; Huntington Study Group TREND-HD Investigators. (2008) Communicating clinical trial results to research participants. Arch Neurol., 65(12):1590-5.

 

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Semaka A, Warby S, Leavitt BR, Hayden MR. (2008) Reply: Autopsy-proven Huntington’s disease with 29 trinucleotide repeats. Movement Disorders. Sep 15;23(12):1794-5.