Scientific Publications


Enroll-HD is both a worldwide observational study and a clinical research platform supporting various studies and trials, with an overall objective to accelerate HD therapeutic development. Clinical data and biosamples collected in Enroll-HD and other HD studies are made available through the Enroll-HD platform to any verified researcher per the Clinical Data and Biosample Access Policy to extract as much knowledge as possible. As ever, we are enormously grateful to the thousands of participants and families around the world who selflessly give their time and energy, as well as to the dedicated staff at the clinical sites who make Enroll-HD possible.

When publishing their findings, researchers using these data and biosamples are expected to adhere to the Enroll-HD publication policy, including full acknowledgement of the individuals who contributed to the collection of the Enroll-HD data. The publications hosted here have all used the Enroll-HD datasets that are periodically made available and illustrate some of the areas of HD research that Enroll-HD is directly influencing.

If your publication that uses Enroll-HD data is not included in this gallery, or you know of a publication that should be included, then please let us know at In the near future we will also be including publications that use other HD study datasets available through the Enroll-HD platform, please let us know if this applies to a publication of yours.




van der Zwaan KF, Jacobs M, van Zwet EW, Roos RAC, de Bot ST
Predictors of working capacity changes related to Huntington's disease: A longitudinal study
J Huntingtons Dis
January 26, 2021
PMID: 33523014
Mühlbäck A, Frank W, Klempířová O, Bezdíček O, Schmitt L, Hofstetter N, Landwehrmeyer GB, Klempíř J
Validation study of a German cognitive battery for Huntington's disease: Relationship between cognitive performance, functional decline, and disease burden
Arch Clin Neuropsychol
January 15, 2021
36 (1) :74-86
PMID: 32613239
Griffin BA, Booth MS, Busse M, Wild EJ, Setodji C, Warner JH, Sampaio C, Mohan A
Estimating the causal effects of modifiable, non-genetic factors on Huntington disease progression using propensity score weighting
Parkinsonism Relat Disord
January 13, 2021
83 :56-62
PMID: 33476879
Ranganathan M, Kostyk SK, Allain DC, Race JA, Daley AM
Age of onset and behavioral manifestations in Huntington's disease: An Enroll-HD cohort analysis
Clin Genet
January 1, 2021
99 (1) :133-142
PMID: 33020896
Ogilvie AC, Gonzalez-Alegre P, Schultz JL
Diabetes mellitus is associated with an earlier age of onset of Huntington's disease
Mov Disord
December 24, 2020
PMID: 33368647
Lu AT, Narayan P, Grant MJ, Langfelder P, Wang N, Kwak S, Wilkinson H, Chen RZ, Chen J, Simon Bawden C, Rudiger SR, Ciosi M, Chatzi A, Maxwell A, Hore TA, Aaronson J, Rosinski J, Preiss A, Vogt TF, Coppola G, Monckton D, Snell RG, William Yang X, Horvath S
DNA methylation study of Huntington's disease and motor progression in patients and in animal models
Nat Commun
September 10, 2020
11 (1) :4529
PMID: 32913184
Mills JA, Long JD, Mohan A, Ware JJ, Sampaio C
Cognitive and motor norms for Huntington's disease
Arch Clin Neuropsychol
September 1, 2020
35 (6) :671–682
PMID: 32407458
Carlozzi NE, Boileau NR, Roberts A, Dayalu P, Hanifan DL, Miner JA, Claassen D, Provost EM
Understanding speech and swallowing difficulties in individuals with Huntington disease: Validation of the HDQLIFE Speech Difficulties and Swallowing Difficulties Item Banks
Qual Life Res
August 24, 2020
PMID: 32839864
Schultz JL, Moser AD, Nopoulos PC
The association between CAG repeat length and age of onset of juvenile-onset Huntington's disease
Brain Sci
August 20, 2020
10 (9) :E575
PMID: 32825467
Achenbach J, von Hein SM, Saft C
Functional and cognitive capacity differ in dystonic motor subtypes when compared to choreatic and hypokinetic-rigid motor subtypes in Huntington's disease
Brain Behav
August 1, 2020
10 (8) :e01704
PMID: 32530575
PMCID: 7428484
Langbehn DR, Hersch S
Clinical outcomes and selection criteria for prodromal Huntington's disease trials
Mov Disord
July 20, 2020
PMID: 32686867
Kwa L, Larson D, Yeh C, Bega D
Influence of age of onset on Huntington's disease phenotype
Tremor Other Hyperkinet Mov
July 9, 2020
10 (21)
PMID: 32775035
PMCID: 7394225
Jaini A, Yomtoob J, Yeh C, Bega D
Understanding HD psychosis: an analysis from the Enroll-HD database
Tremor Other Hyperkinet Mov
July 7, 2020
10 (16)
PMID: 32775030
PMCID: 7394199
Yhnell E, Furby H, Lowe RS, Brookes-Howell LC, Drew CJG, Playle R, Watson G, Metzler-Baddeley C, Rosser AE, Busse ME
A randomised feasibility study of computerised cognitive training as a therapeutic intervention for people with Huntington's disease (CogTrainHD)
Pilot Feasibility Stud
June 19, 2020
6 :88
PMID: 32577299
PMCID: 7304172
Witkowski G, Jachinska K, Stepniak I, Ziora-Jakutowicz K, Sienkiewicz-Jarosz H
Alterations in transcranial sonography among Huntington's disease patients with psychiatric symptoms
J Neural Transm (Vienna)
June 16, 2020
127 (7) :1047-1055
PMID: 32285254
PMCID: 7293686
Gaßner H, Jensen D, Marxreiter F, Kletsch A, Bohlen S, Schubert R, Muratori LM, Eskofier B, Klucken J, Winkler J, Reilmann R, Kohl Z
Gait variability as digital biomarker of disease severity in Huntington's disease
J Neurol
June 5, 2020
267 (6) :1594-1601
PMID: 32048014
PMCID: 7293689
De Lucia N, Peluso S, Roca A, De Michele G, Trojano L, Salvatore E
Perseverative behavior on verbal fluency task in patients with Huntington's disease: a retrospective study on a large patient sample
Arch Clin Neuropsychol
June 2, 2020
35 (4) :358-364
PMID: 31813981
Harris KL, Kuan WL, Mason SL, Barker RA
Antidopaminergic treatment is associated with reduced chorea and irritability but impaired cognition in Huntington's disease (Enroll-HD)
J Neurol Neurosurg Psychiatry
June 1, 2020
91 (6) :622-630
PMID: 32229581
PMCID: 7279191
Julayanont P, Heilman KM, McFarland NR
Early-motor phenotype relates to neuropsychiatric and cognitive disorders in Huntington's disease
Mov Disord
May 2, 2020
35 (5) :781-788
PMID: 31922295
Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H,…Holmans P
Genetic risk underlying psychiatric and cognitive symptoms in Huntington's disease
Biol Psychiatry
May 1, 2020
87 (9) :857-865
PMID: 32087949
PMCID: 7156911
Schultz JL, Harshman LA, Langbehn DR, Nopoulos PC
Hypertension is associated with an earlier age of onset of Huntington's disease
Mov Disord
April 27, 2020
PMID: 32339315
Steventon JJ, Furby H, Ralph J, O’Callaghan P, Rosser AE, Wise RG, Busse M, Murphy K
Altered cerebrovascular response to acute exercise in patients with Huntington's disease
Brain Commun
April 16, 2020
2 (1) :fcaa044
PMID: 32566927
PMCID: 7293798
Fazio P, Fitzer-Attas CJ, Mrzljak L, Bronzova J, Nag S, Warner JH, Landwehrmeyer B, Al-Tawil N, Halldin C, Forsberg A, Ware J, Dilda V, Wood A, Sampaio C, Varrone A, PEARL-HD and LONGPDE10 study collaborators
PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progressio
Mov Disord
April 3, 2020
35 (4) :606-615
PMID: 31967355
Gunn S, Maltby J, Dale M
Assessing mental health difficulties of persons with Huntington's disease: Does informant presence make a difference?
J Neuropsychiatry Clin Neurosci
February 28, 2020
PMID: 32102601
Goh AMY, You E, Perin S, Lautenschlager NT, Clay FJ, Loi SM, Chong T, Ames D, Chiu E, Ellis KA
Alcohol use, mental health, and functional capacity as predictors of workplace disability in a cohort with manifest Huntington's disease
J Neuropsychiatry Clin Neurosci
February 27, 2020
PMID: 32102602
Steventon JJ, Rosser AE, Hart E, Murphy K
Hypertension, antihypertensive use and the delayed-onset of Huntington's disease
Mov Disord
February 4, 2020
PMID: 32017180
Julayanont P, McFarland NR, Heilman KM
Mild cognitive impairment and dementia in motor manifest Huntington's disease: Classification and prevalence
J Neurol Sci
January 15, 2020
408 :116523
PMID: 31678902
Ciosi M, Maxwell A, Cumming SA, Hensman Moss DJ, Alshammari AM, Flower MD, Durr A, Leavitt BR, Roos RAC, TRACK-HD team, Enroll-HD team, Holmans P, Jones L, Langbehn DR, Kwak S, Tabrizi SJ, Monckton DG
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
October 10, 2019
48 :568-580
PMID: 31607598
PMCID: 6838430
Drew CJG, Quinn L, Hamana K, Williams-Thomas R, Marsh L, Dimitropoulou P, Playle R, Griffin BA, Kelson M, Schubert R, Muratori L, Reilmann R, Rosser A, Busse M
Physical activity and exercise outcomes in Huntington disease (PACE-HD): Protocol for a 12-month trial within cohort evaluation of a physical activity intervention in people with Huntington disease
Phys Ther
September 1, 2019
99 (9) :1201-1210
PMID: 31101920
Yomtoob J, Yeh C, Bega D
Ancillary service utilization and impact in Huntington's disease
J Huntingtons Dis
August 28, 2019
8 (3) :301-310
PMID: 31177235
Li F, Li K, Li C, Luo S, PREDICT-HD and ENROLL-HD Investigators of the Huntington Study Group
Predicting the risk of Huntington's disease with multiple longitudinal biomarkers
J Huntingtons Dis
August 27, 2019
8 (3) :323-332
PMID: 31256145
PMCID: 6718328
GeM-HD Consortium, Lee JM, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Abu Elneel K, Ramos EM, Mysore JS, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, McAllister B, Massey T, Medway C, Stone TC, Hall L, Jones L, Holmans P, Kwak S, Ehrhardt AG, Sampaio C, Ciosi M,…Myers RH
CAG repeat not polyglutamine length determines timing of Huntington's disease onset
August 8, 2019
178 (4) :887-900
PMID: 31398342
PMCID: 6700281
Aubeeluck A, Stupple EJN, Schofield MB, Hughes AC, van der Meer L, Landwehrmeyer B, Ho AK
An international validation of a clinical tool to assess carers' quality of life in Huntington's disease
Front Psychol
July 23, 2019
10 :1658
PMID: 31402885
PMCID: 6676956
Zeitler B, Froelich S, Marlen K, Shivak DA, Yu Q, Li D, Pearl JR, Miller JC, Zhang L, Paschon DE, Hinkley SJ, Ankoudinova I, Lam S, Guschin D, Kopan L, Cherone JM, Nguyen HB, Qiao G, Ataei Y, Mendel MC, Amora R, Surosky R, Laganiere J, Vu BJ, Narayanan A, Sedaghat Y, Tillack K, Thiede C, Gärtner A, Kwak S, Bard J,…Zhang HS
Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease
Nat Med
July 1, 2019
25 (7) :1131-1142
PMID: 31263285
Bartoszek A, Aubeeluck A, Stupple E, Bartoszek A, Kocka K, Ślusarska B
Exploring the reliability and validity of the Huntington's disease quality of life battery for carers (HDQoL-C) within a polish population
Int J Environ Res Public Health
June 30, 2019
16 (13) :E2323
PMID: 31262100
Flower M, Lomeikaite V, Ciosi M, Cumming S, Morales F, Lo K, Hensman Moss D, Jones L, Holmans P, TRACK-HD Investigators, OPTIMISTIC Consortium, Monckton DG, Tabrizi SJ
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1
June 19, 2019
142 (7) :1876–1886
PMID: 31216018
Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, Blair NF, Craufurd D, Priller J, Rickards H, Rosser A, Kordasiewicz HB, Czech C, Swayze EE, Norris DA, Baumann T, Gerlach I, Schobel SA, Paz E, Smith AV, Bennett CF, Lane RM, Phase 1–2a IONIS-HTTRx Study Site Team
Targeting huntingtin expression in patients with Huntington's disease
N Engl J Med
June 13, 2019
380 (24) :2307-2316
PMID: 31059641
Shahn Z, Li Y, Sun Z, Mohan A, Sampaio C, Hu J
G-computation and hierarchical models for estimating multiple causal effects from observational disease registries with irregular visits
AMIA Jt Summits Transl Sci Proc
May 6, 2019
2019 :789-798
PMID: 31259036
PMCID: 6568089
Rojas NG, Ziliani JE, Cesarini ME, Etcheverry JL, Da Prat GA, McCusker E, Gatto EM
Late onset Huntington disease: phenotypic and genotypic characteristics of 10 cases in Argentina
J Huntingtons Dis
April 30, 2019
8 (2) :195-198
PMID: 31045517
Sun Z, Ghosh S, Li Y, Cheng Y, Mohan A, Sampaio C, Hu J
A probabilistic disease progression modeling approach and its application to integrated Huntington's disease observational data
April 1, 2019
2 (1) :123-130
PMID: 31984350
PMCID: 6951948