Research & Literature

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Krause A, Mitchell C, Essop F, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015; (168(7)):573-85 doi:10.1002/ajmg.b.32332.

Relationship between Nutritional Status and the Severity of Huntington’s Disease. A Spanish Multicenter Dietary Intake Study.

Cubo E, Rivadeneyra J, Armesto D, et al.

Journal of Huntington's disease 2015; (4(1)):78-85.

The Impact of Huntington Disease on Family Carers: a Literature Overview.

Domaradzki J

Psychiatria polska 2015; (49(5)):931-44.

Comorbid epilepsy in Finnish patients with adult-onset Huntington's disease.

Sipilä JO, Soilu-Hänninen M, Majamaa K

BMC neurology 2016; (16()):24 doi:10.1186/s12883-016-0545-z.

A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease.

Krench M, Cho RW, Littleton JT

Human molecular genetics 2016; (25(15)):3164-3177 doi:10.1093/hmg/ddw166.

Rating scales for behavioral symptoms in Huntington's disease: Critique and recommendations.

Mestre TA, van Duijn E, Davis AM, et al.

Movement disorders : official journal of the Movement Disorder Society 2016; (31(10)):1466-1478 doi:10.1002/mds.26675.

Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease: A Randomized Clinical Trial.

, Frank S, Testa CM, et al.

JAMA 2016; (316(1)):40-50 doi:10.1001/jama.2016.8655.

Quantitative Proteomic Analysis Reveals Similarities between Huntington's Disease (HD) and Huntington's Disease-Like 2 (HDL2) Human Brains.

Ratovitski T, Chaerkady R, Kammers K, et al.

Journal of proteome research 2016; (15(9)):3266-83 doi:10.1021/acs.jproteome.6b00448.

Pathogenic insights from Huntington's disease-like 2 and other Huntington's disease genocopies.

Margolis RL, Rudnicki DD

Current opinion in neurology 2016; (29(6)):743-748 doi:10.1097/WCO.0000000000000386.

Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease.

Claassen DO, Carroll B, De Boer LM, et al.

Journal of clinical movement disorders 2017; (4()):3 doi:10.1186/s40734-017-0051-5.

A Systematic Review of the Huntington Disease-Like 2 Phenotype.

Anderson DG, Walker RH, Connor M, et al.

Journal of Huntington's disease 2017; (6(1)):37-46 doi:10.3233/JHD-160232.

Presentation and care of a family with Huntington disease in a resource-limited community.

Charles J, Lessey L, Rooney J, et al.

Journal of clinical movement disorders 2017; (4()):4 doi:10.1186/s40734-017-0050-6.

Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature.

Tarolli CG, Chesire AM, Biglan KM

Tremor and other hyperkinetic movements (New York, N.Y.) 2017; (7()):454 doi:10.7916/D88057C7.

Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay.

Zhao M, Cheah FSH, Chen M, et al.

PloS one 2017; (12(7)):e0180984 doi:10.1371/journal.pone.0180984.

Nonmotor Symptoms in Huntington Disease.

Cardoso F

International review of neurobiology 2017; (134()):1397-1408 doi:10.1016/bs.irn.2017.05.004.

Huntington's disease-like 2 with an expansion mutation of the Junctophilin-3 gene; first reported case from Botswana.

Ocampo C, Daimari R, Oyekunle AA

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2018; (47()):126-127 doi:10.1016/j.jocn.2017.10.025.

Safety and efficacy of pridopidine in patients with Huntington's disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study.

Reilmann R, McGarry A, Grachev ID, et al.

The Lancet. Neurology 2019; (18(2)):165-176 doi:10.1016/S1474-4422(18)30391-0.

Risk factors for suicidality in Huntington disease: An analysis of the 2CARE clinical trial.

McGarry A, McDermott MP, Kieburtz K, et al.

Neurology 2019; (92(14)):e1643-e1651 doi:10.1212/WNL.0000000000007244.

Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.

Anderson DG, Ferreira-Correia A, Rodrigues FB, et al.

Movement disorders clinical practice 2019; (6(4)):302-311 doi:10.1002/mdc3.12742.

Anosognosia Is Associated With Greater Caregiver Burden and Poorer Executive Function in Huntington Disease.

Wibawa P, Zombor R, Dragovic M, et al.

Journal of geriatric psychiatry and neurology 2020; (33(1)):52-58 doi:10.1177/0891988719856697.

International Guidelines for the Treatment of Huntington's Disease.

Bachoud-Lévi AC, Ferreira J, Massart R, et al.

Frontiers in neurology 2019; (10()):710 doi:10.3389/fneur.2019.00710.

The neuropsychological deficits and dissociations in Huntington Disease-Like 2: A series of case-control studies.

Ferreira-Correia A, Anderson DG, Cockcroft K, Krause A

Neuropsychologia 2020; (136()):107238 doi:10.1016/j.neuropsychologia.2019.107238.

Parkinsonism in Huntington's disease.

Reilmann R

International review of neurobiology 2019; (149()):299-306 doi:10.1016/bs.irn.2019.10.006.

Clinical recommendations to guide physical therapy practice for Huntington disease.

Quinn L, Kegelmeyer D, Kloos A, et al.

Neurology 2020; (94(5)):217-228 doi:10.1212/WNL.0000000000008887.

Management of dysphagia in Huntington's disease: a descriptive review.

Pizzorni N, Pirola F, Ciammola A, Schindler A

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(6)):1405-1417 doi:10.1007/s10072-020-04265-0.

Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.

Kaur J, Parveen S, Shamim U, et al.

Journal of Huntington's disease 2020; (9(3)):283-289 doi:10.3233/JHD-200398.

The Impact of Anosognosia on Clinical and Patient-Reported Assessments of Psychiatric Symptoms in Huntington's Disease.

Isaacs D, Gibson JS, Stovall J, Claassen DO

Journal of Huntington's disease 2020; (9(3)):291-302 doi:10.3233/JHD-200410.

Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington's disease.

Schindler A, Pizzorni N, Sassone J, et al.

Scientific reports 2020; (10(1)):15242 doi:10.1038/s41598-020-72250-w.

The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington's Disease.

Ferreira-Correia A, Krause A, Anderson DG

Journal of Huntington's disease 2020; (9(4)):325-334 doi:10.3233/JHD-200422.

Effect of cognitive and motor dual-task on oropharyngeal swallowing in Parkinson's disease.

Labeit B, Claus I, Muhle P, et al.

European journal of neurology 2021; (28(3)):754-762 doi:10.1111/ene.14603.

Safety and clinical impact of FEES - results of the FEES-registry.

Dziewas R, Auf dem Brinke M, Birkmann U, et al.

Neurological research and practice 2019; (1()):16 doi:10.1186/s42466-019-0021-5.

Predictors of Caregiver Burden in Huntington's Disease.

Hergert DC, Cimino CR

Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists 2021; (36(8)):1426–1437 doi:10.1093/arclin/acab009.

Allelic and phenotypic heterogeneity in Junctophillin-3 related neurodevelopmental and movement disorders.

Bourinaris T, Athanasiou A, Efthymiou S, et al.

European journal of human genetics : EJHG 2021; (29(6)):1027-1031 doi:10.1038/s41431-021-00866-1.

Clinical predictors and neural correlates for compromised swallowing safety in Huntington disease.

Schumann-Werner B, Dogan I, Mirzazade S, et al.

European journal of neurology 2021; (28(9)):2855-2862 doi:10.1111/ene.14953.

Huntington's disease: diagnosis and management.

Stoker TB, Mason SL, Greenland JC, et al.

Practical neurology 2022; (22(1)):32-41 doi:10.1136/practneurol-2021-003074.

Incidence of completed suicide and suicide attempts in a global prospective study of Huntington's disease.

van Duijn E, Fernandes AR, Abreu D, et al.

BJPsych open 2021; (7(5)):e158 doi:10.1192/bjo.2021.969.

An MDS Evidence-Based Review on Treatments for Huntington's Disease.

Ferreira JJ, Rodrigues FB, Duarte GS, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(1)):25-35 doi:10.1002/mds.28855.

The role of junctophilin proteins in cellular function.

Lehnart SE, Wehrens XHT

Physiological reviews 2022; (102(3)):1211-1261 doi:10.1152/physrev.00024.2021.

Dysphagia, Fear of Choking and Preventive Measures in Patients with Huntington's Disease: The Perspectives of Patients and Caregivers in Long-Term Care.

Kalkers K, Schols JMGA, van Zwet EW, Roos RAC

The journal of nutrition, health & aging 2022; (26(4)):332-338 doi:10.1007/s12603-022-1743-6.

The burden of Huntington's disease: A prospective longitudinal study of patient/caregiver pairs.

Youssov K, Audureau E, Vandendriessche H, et al.

Parkinsonism & related disorders 2022; (103()):77-84 doi:10.1016/j.parkreldis.2022.08.023.

Clinical Decision Trees to Guide Physical Therapy Management of Persons with Huntington's Disease.

Fritz NE, Kegelmeyer DA, Rao AK, et al.

Journal of Huntington's disease 2022; (11(4)):435-453 doi:10.3233/JHD-220549.

The Safety of Deutetrabenazine for Chorea in Huntington Disease: An Open-Label Extension Study.

Frank S, Testa C, Edmondson MC, et al.

CNS drugs 2022; (36(11)):1207-1216 doi:10.1007/s40263-022-00956-8.

Different depression: motivational anhedonia governs antidepressant efficacy in Huntington's disease.

McLauchlan DJ, Lancaster T, Craufurd D, et al.

Brain communications 2022; (4(6)):fcac278 doi:10.1093/braincomms/fcac278.

What we don't need to prove but need to do in multidisciplinary treatment and care in Huntington's disease: a position paper.

Mühlbӓck A, van Walsem M, Nance M, et al.

Orphanet journal of rare diseases 2023; (18(1)):19 doi:10.1186/s13023-023-02622-8.

Huntington Study Group's Neuropsychology Working Group: Implementing Non-Motor Diagnostic Criteria.

Considine CM, Rossetti MA, Del Bene VA, et al.

Movement disorders clinical practice 2023; (10(12)):1714-1724 doi:10.1002/mdc3.13910.

Huntington disease-like 2: insight into neurodegeneration from an African disease.

Krause A, Anderson DG, Ferreira-Correia A, et al.

Nature reviews. Neurology 2024; (20(1)):36-49 doi:10.1038/s41582-023-00906-y.

The First Case of Huntington's Disease like 2 in Mali, West Africa.

Bocoum A, Ouologuem M, Cissé L, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2024; (14()):15 doi:10.5334/tohm.859.

Atypical Presentations of Huntington Disease-like 2 in South African Individuals.

Narotam-Jeena H, Guttman M, van Hillegondsberg L, et al.

Movement disorders clinical practice 2024; (11(7)):850-854 doi:10.1002/mdc3.14052.

NMR structures of small molecules bound to a model of a CUG RNA repeat expansion.

Chen JL, Taghavi A, Frank AJ, et al.

Bioorganic & medicinal chemistry letters 2024; (111()):129888 doi:10.1016/j.bmcl.2024.129888.

Spinocerebellar ataxia type 10 and Huntington disease-like 2 in Venezuela: Further evidence of two different ancestral founder effects.

Paradisi I, Arias S, Ikonomu V

Annals of human genetics 2024; (88(6)):445-454 doi:10.1111/ahg.12576.

Medication Use and Treatment Indications in Huntington's Disease; Analyses from a Large Cohort.

Feleus S, Skotnicki LEM, Roos RAC, de Bot ST

Movement disorders clinical practice 2024; (11(12)):1530-1541 doi:10.1002/mdc3.14230.

Comparative analysis of neurofilament light chain in Huntington's disease like 2 and Huntington's disease.

Anderson DG, Ferreira-Correia A, Rodrigues FB, et al.

Journal of Huntington's disease 2025; (14(1)):103-108 doi:10.1177/18796397241300141.

West-Central African Ancestry of the Repeat-Expansion Founder Mutation on the JPH3 Gene in Mexican Patients With Huntington's Disease-Like 2.

Ramírez-García MÁ, Yescas-Gómez P, Monroy-González JCM, et al.

Archives of medical research 2025; (56(5)):103208 doi:10.1016/j.arcmed.2025.103208.

Differentiating Hyperkinetic and Hypokinetic Motor Features in the Progression of Huntington's Disease.

Halabi N, Killoran A, Nopoulos PC, Schultz JL

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.04.17.25325819.

Huntington Disease and Chorea.

Moore KPL

Continuum (Minneapolis, Minn.) 2025; (31(4)):1066-1092 doi:10.1212/cont.0000000000001597.

Huntington's disease-like 2 patients' profile in a Brazilian cohort.

Boone DL, Tumas V, Vilela G, et al.

Parkinsonism & related disorders 2025; (139()):108023 doi:10.1016/j.parkreldis.2025.108023.

Comparison of tetrabenazine, tiapride and olanzapine in Huntington's disease: a one-year French randomized multicenter study (Neuro-HD).

Youssov K, Audureau E, Pariente J, et al.

Parkinsonism & related disorders 2025; (140()):108017 doi:10.1016/j.parkreldis.2025.108017.

Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique.

Antolin-Sanfeliz I, Giguet-Valard AG, Duclos S, et al.

Movement disorders clinical practice 2026; (13(3)):673-682 doi:10.1002/mdc3.70379.

Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review.

Hoffmann K, White S, Sexton A

Journal of Huntington's disease 2026; (15(3)):293-316 doi:10.1177/18796397251411109.

Non-Huntington's disease chorea: an expanding universe with acquired causes.

Cardoso F, Maia D, Maciel R, et al.

Brain : a journal of neurology 2026; (149(6)):1860-1873 doi:10.1093/brain/awag038.

Safety and efficacy of VMAT2 inhibitors in Huntington Disease: A systematic review.

Baghaei A, Dehnavi AZ, Hashempour Z, et al.

Parkinsonism & related disorders 2026; (145()):108209 doi:10.1016/j.parkreldis.2026.108209.

Clinical implications of malnutrition in Huntington's disease progression: evidence from a Chinese cohort and Mendelian randomization.

Xia JQ, Cheng YF, Zhang SR, et al.

Frontiers in nutrition 2026; (13()):1718264 doi:10.3389/fnut.2026.1718264.