Publications

Publications

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 info@chdifoundation.org. 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.

Authors

Title

Journal

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
Jun 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
Brain
Jun 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
Jun 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 06, 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
Apr 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
JAMIA Open
Apr 01, 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
Feb 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
Feb 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
Feb 04, 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
Feb 01, 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
Jan 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
Dec 01, 2018
128 (12) :1157-1162
PMID: 29912591

Schultz JL, Kamholz JA, Nopoulos PC, Killoran A

Comparing Risperidone and Olanzapine to Tetrabenazine for the management of chorea in Huntington disease: An analysis from the Enroll-HD database
Mov Disord Clin Pract
Nov 30, 2018
6 (2) :132-138
PMID: 30838312
PMCID: 6384174

Watkins K, Purks J, Kumar A, Sokas RK, Heller H, Anderson KE

Huntington's disease and employment: The relative contributions of cognitive and motor decline to the decision to leave work
J Huntingtons Dis
Nov 24, 2018
7 (4) :367-377
PMID: 30198875

Long JD, Mills JA

Joint modeling of multivariate longitudinal data and survival data in several observational studies of Huntington's disease
BMC Med Res Methodol
Nov 16, 2018
18 (1) :138
PMID: 30445915
PMCID: 6240282

Rocha NP, Mwangi B, Gutierrez Candano CA, Sampaio C, Furr Stimming E, Teixeira AL

The clinical picture of psychosis in manifest Huntington's disease: a comprehensive analysis of the Enroll-HD database
Front Neurol
Nov 06, 2018
9 :930
PMID: 30459704
PMCID: 6232301

Honrath P, Dogan I, Wudarczyk O, Görlich KS, Votinov M, Werner CJ, Schumann B, Overbeck RT, Schulz JB, Landwehrmeyer BG, Gur RE, Habel U, Reetz K, Enroll-HD investigators

Risk factors of suicidal ideation in Huntington's disease: literature review and data from Enroll-HD
J Neurol
Nov 02, 2018
265 (11) :2548-2561
PMID: 30167880

Fusilli C, Migliore S, Mazza T, Consoli F, De Luca A, Barbagallo G, Ciammola A, Gatto EM, Cesarini M, Etcheverry JL, Parisi V, Al-Oraimi M, Al-Harrasi S, Al-Salmi Q, Marano M, Vonsattel JG, Sabatini U, Landwehrmeyer GB, Squitieri F

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis
Lancet Neurol
Nov 01, 2018
17 (11) :986-993
PMID: 30243861

Barkhuizen M, Rodrigues FB, Anderson DG, Winkens B, REGISTRY Investigators of EHDN, Wild EJ, Kramer BW, Gavilanes AWD

Perinatal insults and neurodevelopmental disorders may impact Huntington's disease age of diagnosis
Parkinsonism Relat Disord
Oct 01, 2018
55 :55-60
PMID: 29804730
PMCID: 6226577

Schultz JL, Killoran A, Nopoulos PC, Chabal CC, Moser DJ, Kamholz JA

Evaluating depression and suicidality in tetrabenazine users with Huntington disease
Neurology
Jul 17, 2018
91 (3) :202-207
PMID: 29925548

Aziz NA, van der Burg JMM, Tabrizi SJ, Landwehrmeyer GB

Overlap between age-at-onset and disease-progression determinants in Huntington disease
Neurology
Jun 12, 2018
90 (24) :2099-2106
PMID: 29743208
PMCID: 5996832

Schultz JL, Nopoulos PC, Gonzalez-Alegre P

Human immunodeficiency virus infection in Huntington's disease is associated with an earlier age of symptom onset
J Huntingtons Dis
Jun 01, 2018
7 (2) :163-166
PMID: 29843248

Sun Z, Li Y, Ghosh S, Cheng Y, Mohan A, Sampaio C, Hu J

A data-driven method for generating robust symptom onset indicators in Huntington's disease Registry data
AMIA Annu Symp Proc
Apr 16, 2018
:1635-1644
PMID: 29854234
PMCID: 5977625

Winder JY, Roos RAC

Premanifest Huntington's disease: Examination of oculomotor abnormalities in clinical practice
PLoS One
Mar 01, 2018
13 (3) :e0193866
PMID: 29494703
PMCID: 5832368

Kringlen G, Kinsley L, Aufox S, Rouleau G, Bega D

The impact of family history on the clinical features of Huntington's disease
J Huntingtons Dis
Dec 12, 2017
6 (4) :327-335
PMID: 28984613

van der Burg JMM, Gardiner SL, Ludolph AC, Landwehrmeyer GB, Roos RAC, Aziz NA

Body weight is a robust predictor of clinical progression in Huntington disease
Ann Neurol
Sep 01, 2017
82 (3) :479-483
PMID: 28779551

Ghosh S, Sun Z, Li Y, Cheng Y, Mohan A, Sampaio C, Hu J

An exploration of latent structure in observational Huntington's disease studies
AMIA Jt Summits Transl Sci Proc
Jul 26, 2017
2017 :92-102
PMID: 28815114
PMCID: 5543350

Walker T, Ghosh B, Kipps C

Assessing decline: visualising progression in Huntington's disease using a clinical dashboard with Enroll-HD data
J Huntingtons Dis
Jun 30, 2017
6 (2) :139-147
PMID: 28550266

Hervás D, Fornés-Ferrer V, Gómez-Escribano AP, Sequedo MD, Peiró C, Millán JM, Vázquez-Manrique RP

Metformin intake associates with better cognitive function in patients with Huntington's disease
PLoS One
Jun 20, 2017
12 (6) :e0179283
PMID: 28632780
PMCID: 5478119

Schultz JL, Kamholz JA, Moser DJ, Feely SM, Paulsen JS, Nopoulos PC

Substance abuse may hasten motor onset of Huntington disease: Evaluating the Enroll-HD database
Neurology
Feb 28, 2017
88 (9) :909-915
PMID: 28148631
PMCID: 5331869

Frich JC, Rae D, Roxburgh R, Miedzybrodzka ZH, Edmondson M, Pope EB, Goodman L, Haddad MS, Giuliano J, Nelson EC, Guttman M, Nance M

Health care delivery practices in Huntington's disease specialty clinics: an international survey
J Huntingtons Dis
Jul 01, 2016
5 (2) :207-213
PMID: 27372053
PMCID: 4942722

Landwehrmeyer GB, Fitzer-Attas CJ, Giuliano JD, Gonçalves N, Anderson KE, Cardoso F, Ferreira JJ, Mestre TA, Stout JC, Sampaio C

Data analytics from Enroll-HD, a global clinical research platform for Huntington's disease
Mov Disord Clin Pract
Jun 22, 2016
4 (2) :212-224
PMID: 30363395
PMCID: 6174428

Bettencourt C, Hensman-Moss D, Flower M, Wiethoff S, Brice A, Goizet C, Stevanin G, Koutsis G, Karadima G, Panas M, Yescas-Gómez P, García-Velázquez LE, Alonso-Vilatela ME, Lima M, Raposo M, Traynor B, Sweeney M, Wood N, Giunti P, SPATAX Network, Durr A, Holmans P, Houlden H, Tabrizi SJ, Jones L

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases
Ann Neurol
Jun 01, 2016
79 (6) :983-90
PMID: 27044000
PMCID: 4914895

McNally G, Rickards H, Horton M, Craufurd D

Exploring the validity of the short version of the Problem Behaviours Assessment (PBA-s) for Huntington's disease: a Rasch analysis
J Huntingtons Dis
Sep 01, 2015
4 (4) :347-69
PMID: 26756591