Scientific Publications

Scientific Publications

Enroll-HD is both a worldwide observational study and a clinical research platform supporting various studies, with an overall objective to accelerate HD therapeutic development. A distinctive element of Enroll-HD is that the clinical data collected from participants is made widely available to any interested researcher to maximize the knowledge gleaned from it. The publications presented here have all used the datasets that are periodically made available, and illustrate some of the areas of HD research that Enroll-HD is directly influencing. As ever, we are enormously grateful to all of the thousands of participants 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 work.

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




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
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
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
June 12, 2020
PMID: 32530575
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
Goold R, Flower M, Moss DH, Medway C, Wood-Kaczmar A, Andre R, Farshim P, Bates GP, Holmans P, Jones L, Tabrizi SJ
FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat
Hum Mol Genet
February 15, 2019
28 (4) :650-661
PMID: 30358836
PMCID: 6360275
Yu M, Tan K, Koloms K, Bega D
Assessment of caregiver burden in Huntington's disease
J Huntingtons Dis
February 13, 2019
8 (1) :111-114
PMID: 30594932
Castaldo I, De Rosa M, Romano A, Zuchegna C, Squitieri F, Mechelli R, Peluso S, Borrelli C, Del Mondo A, Salvatore E, Vescovi LA, Migliore S, De Michele G, Ristori G, Romano S, Avvedimento EV, Porcellini A
DNA damage signatures in peripheral blood cells as biomarkers in prodromal Huntington disease
Ann Neurol
February 4, 2019
85 (2) :296-301
PMID: 30549309
Schultz JL, Nopoulos PC, Killoran A, Kamholz JA
Statin use and delayed onset of Huntington's disease
Mov Disord
February 1, 2019
34 (2) :281-285
PMID: 30576007
Scarabino D, Veneziano L, Peconi M, Frontali M, Mantuano E, Corbo RM
Leukocyte telomere shortening in Huntington's disease
J Neurol Sci
January 15, 2019
396 :25-29
PMID: 30396032
Gatto E, Parisi V, Persi G, Fernandez Rey E, Cesarini M, Luis Etcheverry J, Rivera P, Squitieri F
Optical coherence tomography (OCT) study in Argentinean Huntington's disease patients
Int J Neurosci
December 1, 2018
128 (12) :1157-1162
PMID: 29912591