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 info@chdifoundation.org
Title
Journal
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
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
Mills JA, Long JD, Mohan A, Ware JJ, Sampaio C
Cognitive and motor norms for Huntington's disease
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
Schultz JL, Moser AD, Nopoulos PC
The association between CAG repeat length and age of onset of juvenile-onset Huntington's disease
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
Langbehn DR, Hersch S
Clinical outcomes and selection criteria for prodromal Huntington's disease trials
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)
10 (21)
PMID: 32775035
PMCID: 7394225
DOI: 10.5334/tohm.536
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)
10 (16)
PMID: 32775030
PMCID: 7394199
DOI: 10.5334/tohm.395
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
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)
Witkowski G, Jachinska K, Stepniak I, Ziora-Jakutowicz K, Sienkiewicz-Jarosz H
Alterations in transcranial sonography among Huntington's disease patients with psychiatric symptoms
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
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
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)
Julayanont P, Heilman KM, McFarland NR
Early-motor phenotype relates to neuropsychiatric and cognitive disorders in Huntington's disease
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
Schultz JL, Harshman LA, Langbehn DR, Nopoulos PC
Hypertension is associated with an earlier age of onset of Huntington's disease
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
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
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
Julayanont P, McFarland NR, Heilman KM
Mild cognitive impairment and dementia in motor manifest Huntington's disease: Classification and prevalence
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
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
Yomtoob J, Yeh C, Bega D
Ancillary service utilization and impact in Huntington's disease
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
8 (3) :323-332
PMID: 31256145
PMCID: 6718328
DOI: 10.3233/JHD-190345
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
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
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
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
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
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
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
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
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
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
28 (4) :650-661
PMID: 30358836
PMCID: 6360275
DOI: 10.1093/hmg/ddy375
Yu M, Tan K, Koloms K, Bega D
Assessment of caregiver burden in Huntington's disease
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
Designed by LONI