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.

Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management.

Kumar N, Rizek P, Jog M

Tremor and other hyperkinetic movements (New York, N.Y.) 2016; (6()):355 doi:10.7916/D8KK9BHF.

Hereditary chorea - what else to consider when the Huntington's disease genetics test is negative?

Malek N, Newman EJ

Acta neurologica Scandinavica 2017; (135(1)):25-33 doi:10.1111/ane.12609.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

Mariani LL, Tesson C, Charles P, et al.

JAMA neurology 2016; (73(9)):1105-14 doi:10.1001/jamaneurol.2016.2215.

Psychiatric Presentations of C9orf72 Mutation: What Are the Diagnostic Implications for Clinicians?

Ducharme S, Bajestan S, Dickerson BC, Voon V

The Journal of neuropsychiatry and clinical neurosciences 2017; (29(3)):195-205 doi:10.1176/appi.neuropsych.16090168.

[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].

Schneider C, Danek A, Hostmann A, et al.

Fortschritte der Neurologie-Psychiatrie 2017; (85(5)):270-273 doi:10.1055/s-0042-123042.

Phenomenology and disease progression of chorea-acanthocytosis patients in Spain.

Estévez-Fraga C, López-Sendón Moreno JL, Martínez-Castrillo JC,

Parkinsonism & related disorders 2018; (49()):17-21 doi:10.1016/j.parkreldis.2017.10.016.

Cognitive Reappraisal Intervention for Suicide Prevention (CRISP) for Middle-Aged and Older Adults Hospitalized for Suicidality.

Kiosses DN, Alexopoulos GS, Hajcak G, et al.

The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2018; (26(4)):494-503 doi:10.1016/j.jagp.2017.11.009.

Spinocerebellar Ataxia Type 17 (SCA17).

Toyoshima Y, Takahashi H

Advances in experimental medicine and biology 2018; (1049()):219-231 doi:10.1007/978-3-319-71779-1_10.

Huntington's Disease in a Patient Misdiagnosed as Conversion Disorder.

Nogueira JM, Franco AM, Mendes S, et al.

Case reports in psychiatry 2018; (2018()):3915657 doi:10.1155/2018/3915657.

A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci.

Baine FK, Peerbhai N, Krause A

Journal of the neurological sciences 2018; (390()):200-204 doi:10.1016/j.jns.2018.04.031.

Huntington's disease-like disorders in Latin America and the Caribbean.

Walker RH, Gatto EM, Bustamante ML, et al.

Parkinsonism & related disorders 2018; (53()):10-20 doi:10.1016/j.parkreldis.2018.05.021.

Life expectancy and mortality in chorea-acanthocytosis and McLeod syndrome.

Walker RH, Miranda M, Jung HH, Danek A

Parkinsonism & related disorders 2019; (60()):158-161 doi:10.1016/j.parkreldis.2018.09.003.

WITHDRAWN: Novel Xp21.1 deletion associated with unusual features in a large McLeod syndrome kindred.

Sveinsson O, Udd B, Svenningsson P, et al.

Parkinsonism & related disorders 2018; doi:10.1016/j.parkreldis.2018.09.014.

Neuroacanthocytosis with unusual clinical features: A case report.

Zhu H, Feng XM, Zhao T, Liu JY

Medicine 2019; (98(2)):e14050 doi:10.1097/MD.0000000000014050.

[Genetics of movement disorders-rare but important].

Klebe S, Timmann D

Der Nervenarzt 2019; (90(2)):197-210 doi:10.1007/s00115-018-0659-1.

Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Schneider SA, Bird T

Movement disorders clinical practice 2016; (3(4)):342-354 doi:10.1002/mdc3.12312.

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.

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families.

De Michele G, Lieto M, Galatolo D, et al.

Parkinsonism & related disorders 2019; (65()):91-96 doi:10.1016/j.parkreldis.2019.05.001.

Criminal Behaviour Associated with a Novel Mutation in the VPS13A-Gene Causing Chorea-Acanthocytosis.

Elmgreen SB

Case reports in psychiatry 2019; (2019()):5947416 doi:10.1155/2019/5947416.

Neuroacanthocytosis: a case report of chorea-acanthocytosis.

Xiang Y, Li S, Liu X, et al.

Journal of integrative neuroscience 2019; (18(2)):197-201 doi:10.31083/j.jin.2019.02.165.

RNA toxicity in non-coding repeat expansion disorders.

Swinnen B, Robberecht W, Van Den Bosch L

The EMBO journal 2020; (39(1)):e101112 doi:10.15252/embj.2018101112.

Links Between the C9orf72 Repeat Expansion and Psychiatric Symptoms.

Silverman HE, Goldman JS, Huey ED

Current neurology and neuroscience reports 2019; (19(12)):93 doi:10.1007/s11910-019-1017-9.

The risks of converting post-hoc findings into primary outcomes in subsequent trials.

Rodrigues FB, Ferreira JJ

Annals of translational medicine 2019; (7(Suppl 8)):S337 doi:10.21037/atm.2019.09.105.

Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis.

Spieler D, Velayos-Baeza A, Mühlbäck A, et al.

Molecular genetics & genomic medicine 2020; (8(9)):e1179 doi:10.1002/mgg3.1179.

Integrated and patient-centred management of Parkinson's disease: a network model for reshaping chronic neurological care.

Bloem BR, Henderson EJ, Dorsey ER, et al.

The Lancet. Neurology 2020; (19(7)):623-634 doi:10.1016/S1474-4422(20)30064-8.

Screening for the C9ORF72 expansion in Greek Huntington Disease phenocopies and controls and meta-analysis of current data.

Rikos D, Marogianni C, Provatas A, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2020; (10()):5 doi:10.5334/tohm.61.

Knock in of a hexanucleotide repeat expansion in the C9orf72 gene induces ALS in rats.

Dong W, Zhang L, Sun C, et al.

Animal models and experimental medicine 2020; (3(3)):237-244 doi:10.1002/ame2.12129.

Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Vaisfeld A, Bruno G, Petracca M, et al.

Genes 2021; (12(3)) doi:10.3390/genes12030344.

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.

Luo FM, Deng MX, Yu R, et al.

Frontiers in neuroscience 2021; (15()):604715 doi:10.3389/fnins.2021.604715.

Multidimensional Apathy: The Utility of the Dimensional Apathy Scale in Huntington's Disease.

Atkins KJ, Andrews SC, Chong TT, Stout JC

Movement disorders clinical practice 2021; (8(3)):361-370 doi:10.1002/mdc3.13147.

Disease Mechanisms and Therapeutic Approaches in C9orf72 ALS-FTD.

Mayl K, Shaw CE, Lee YB

Biomedicines 2021; (9(6)) doi:10.3390/biomedicines9060601.

Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17.

Shuvalova LD, Davidenko AV, Eremeev AV, et al.

Stem cell research 2021; (54()):102431 doi:10.1016/j.scr.2021.102431.

Ocular Motor Findings Aid in Differentiation of Spinocerebellar Ataxia Type 17 from Huntington's Disease.

Lee SU, Kim JS, Yoo D, et al.

Cerebellum (London, England) 2023; (22(1)):1-13 doi:10.1007/s12311-021-01356-2.

Evaluation of barriers to referral for cancer predisposition syndromes in pediatric oncology patients in the United States.

Venier RE, Grubs RE, Kessler E, et al.

Journal of genetic counseling 2022; (31(4)):901-911 doi:10.1002/jgc4.1559.

Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.

Nguyen QTR, Ortigoza Escobar JD, Burgunder JM, et al.

Frontiers in neurology 2022; (13()):817753 doi:10.3389/fneur.2022.817753.

Teaching Video NeuroImage: Peculiar Hobby Horse Gait in Huntington Disease-like 2.

Guimarães TG, Parmera JB, Barbosa ER, et al.

Neurology 2022; (98(24)):1031-1032 doi:10.1212/WNL.0000000000200603.

A qualitative examination of apathy and physical activity in Huntington's and Parkinson's disease.

Atkins KJ, Friel CP, Andrews SC, et al.

Neurodegenerative disease management 2022; (12(3)):129-139 doi:10.2217/nmt-2021-0047.

Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data.

He W, Li C, Dong H, et al.

Journal of movement disorders 2022; (15(3)):197-205 doi:10.14802/jmd.22003.

A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.

Ruscitti F, Origone P, Rosti G, et al.

Clinical case reports 2022; (10(10)):e6308 doi:10.1002/ccr3.6308.

Mutation analysis of the TATA box-binding protein (TBP) gene in Russian patients with spinocerebellar ataxia and Huntington disease-like phenotype.

Ivanova E, Nuzhnyi E, Abramycheva N, et al.

Clinical neurology and neurosurgery 2022; (222()):107473 doi:10.1016/j.clineuro.2022.107473.

Treatment Dilemma in Juvenile Huntington's Patient Presenting with Psychiatric Symptoms.

Öksüz N, Kömür M, Doğu O

Noro psikiyatri arsivi 2023; (60(1)):87-89 doi:10.29399/npa.28058.

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.

Paucar M, Laffita-Mesa J, Niemelä V, et al.

Journal of the neurological sciences 2023; (451()):120707 doi:10.1016/j.jns.2023.120707.

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Rosina E, Pezzani L, Apuril E, et al.

Molecular genetics & genomic medicine 2024; (12(1)):e2316 doi:10.1002/mgg3.2316.

Delivering Multidisciplinary Rehabilitation Care in Parkinson's Disease: An International Consensus Statement.

Goldman JG, Volpe D, Ellis TD, et al.

Journal of Parkinson's disease 2024; (14(1)):135-166 doi:10.3233/JPD-230117.

A Man With Progressive Chorea and Abnormal Trunk Movements.

Sugumaran R, Bhuvaneswaran R

Cureus 2024; (16(6)):e62004 doi:10.7759/cureus.62004.

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data.

Saez-Atienzar S, Souza CDS, Chia R, et al.

Cell genomics 2024; (4(11)):100679 doi:10.1016/j.xgen.2024.100679.

Health system related kidney supportive care interventions for adults with chronic kidney disease: A systematic review.

Dharmagunawardene D, Kularatna S, Halahakone U, et al.

Journal of renal care 2025; (51(1)):e12517 doi:10.1111/jorc.12517.

A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington's Disease in Korea.

Moon J, Oh E, Kim M, et al.

Journal of movement disorders 2025; (18(1)):17-30 doi:10.14802/jmd.24232.

A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature review.

Ni J, Zheng F, Yu L, et al.

Journal of medical genetics 2025; (62(10)):647-652 doi:10.1136/jmg-2024-110520.

Advancing the Contemporary Multidisciplinary Heart Valve Team: Update on Priorities for Clinicians and Programs.

Lauck SB, Clark C, Offen S, et al.

Structural heart : the journal of the Heart Team 2025; (9(7)):100490 doi:10.1016/j.shj.2025.100490.

Huntington Disease and Chorea.

Moore KPL

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

Efficacy and safety of vesicular monoamine transporter 2 inhibitors for Huntington's disease chorea based on network meta-analysis.

Huang J, Chen FF, Wen SY, et al.

Frontiers in pharmacology 2025; (16()):1637577 doi:10.3389/fphar.2025.1637577.

Update on Genetic Chorea.

Pérez-Pérez J, Olmedo-Saura G, Martínez-Horta S, et al.

European journal of neurology 2025; (32(10)):e70357 doi:10.1111/ene.70357.

Huntington's Disease and Psychiatric Comorbidities: A Retrospective Study in Portugal.

Rocha J, Soares C, Gonçalves-Pinho M

Acta medica portuguesa 2025; (38(11)):689-698 doi:10.20344/amp.23438.

Economic Cost of Current and Alternative Models of Multidisciplinary Care of Juvenile-Onset Huntington's Disease.

Young TA, Curtis PA, Thompson J, et al.

Movement disorders clinical practice 2026; (13(4)):964-972 doi:10.1002/mdc3.70433.

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.

Timing and outcomes of outpatient palliative care consultations in advanced cancer.

Torres-Tenor JL, Bruera E, Ortí-Hortelano MJ, et al.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2026; doi:10.1007/s12094-026-04276-x.

Diagnostic value of genetic testing in chorea: a retrospective monocentric study.

Fodor TA, Milenkovic I, Zimprich A, Brücke C

Journal of neurology 2026; (273(7)).