Journal of Movement Disorders

Review Article

A Practical Guide for Diagnostic Investigations and Special Considerations in Patients With Huntington’s Disease in Korea: Jangsup Moon, Eungseok Oh, Minkyeong Kim, Ryul Kim, Dallah Yoo, Chaewon Shin, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon; J Mov Disord. 2025;18(1):17-30. Published online December 26, 2024; DOI: https://doi.org/10.14802/jmd.24232

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Abstract PDF: This review provides a comprehensive framework for the diagnostic approach and management of Huntington’s disease (HD) tailored to the Korean population. Key topics include genetic counseling, predictive testing, and reproductive options like preimplantation genetic testing. Strategies for assessing disease progression in premanifest HD through laboratory investigations, biofluid, and imaging biomarkers are highlighted. Special considerations for juvenile and late-onset HD, along with associated comorbidities like diabetes mellitus, hypertension, and cardiovascular abnormalities, are discussed. The guide emphasizes personalized symptom management, including pharmacotherapy, physical therapy, and nutritional support, while exploring emerging disease-modifying treatments. A multidisciplinary care model is advocated to improve outcomes for HD patients and caregivers in Korea.

Original Article

Eye Movement and Gait Variability Analysis in Chinese Patients With Huntington’s Disease: Shu-Xia Qian, Yu-Feng Bao, Xiao-Yan Li, Yi Dong, Zhi-Ying Wu; J Mov Disord. 2025;18(1):65-76. Published online December 9, 2024; DOI: https://doi.org/10.14802/jmd.24151

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Abstract PDF Supplementary Material: Objective
Huntington’s disease (HD) is characterized by motor, cognitive, and neuropsychiatric symptoms. Oculomotor impairments and gait variability have been independently considered as potential markers in HD. However, an integrated analysis of eye movement and gait is lacking. We performed multiple examinations of eye movement and gait variability in HTT mutation carriers, analyzed the consistency between these parameters and clinical severity, and then examined the associations between oculomotor impairments and gait deficits.
Methods
We included 7 patients with pre-HD, 30 patients with HD and 30 age-matched controls. We collected demographic data and assessed the Unified Huntington’s Disease Rating Scale (UHDRS) score. Examinations, including saccades, smooth pursuit tests, and optokinetic (OPK) tests, were performed to evaluate eye movement function. The parameters of gait include stride length, walking velocity, step deviation, step length, and gait phase.
Results
HD patients have significant impairments in the latency and velocity of saccades, the gain of smooth pursuit, and the gain and slow phase velocities of OPK tests. Only the speed of saccades significantly differed between pre-HD patients and controls. There are significant impairments in stride length, walking velocity, step length, and gait phase in HD patients. The parameters of eye movement and gait variability in HD patients were consistent with the UHDRS scores. There were significant correlations between eye movement and gait parameters.
Conclusion
Our results show that eye movement and gait are impaired in HD patients and that the speed of saccades is impaired early in pre-HD. Eye movement and gait abnormalities in HD patients are significantly correlated with clinical disease severity.

Review Article

Evidence-Based Review on Symptomatic Management of Huntington’s Disease: Jung Hwan Shin, Hui-Jun Yang, Jong Hyun Ahn, Sungyang Jo, Seok Jong Chung, Jee-Young Lee, Hyun Sook Kim, Manho Kim; J Mov Disord. 2024;17(4):369-386. Published online August 9, 2024; DOI: https://doi.org/10.14802/jmd.24140; Correction in: J Mov Disord 2025;18(1):111

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Abstract PDF Supplementary Material: Huntington’s disease (HD) is a neurodegenerative disorder characterized by motor, behavioral, and cognitive impairments and significant impacts on patient quality of life. This evidence-based review, conducted by the Korean Huntington Disease Society task force, systematically examines current pharmacological and nonpharmacological interventions for symptomatic management of HD. Following PRISMA guidelines, databases were searched for studies up to August 2022 that focused on 23 symptoms across four domains: motor, neuropsychological, cognition, and others. This review provides a comprehensive and systematic approach to the management of HD, highlighting the need for more high-quality clinical trials to develop robust evidence-based guidelines.

Original Articles

High Levels of Mutant Huntingtin Protein in Tear Fluid From Huntington’s Disease Gene Expansion Carriers: Marlies Gijs, Nynke Jorna, Nicole Datson, Chantal Beekman, Cira Dansokho, Alexander Weiss, David E. J. Linden, Mayke Oosterloo; J Mov Disord. 2024;17(2):181-188. Published online February 21, 2024; DOI: https://doi.org/10.14802/jmd.24014

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Abstract PDF Supplementary Material

Objective
Huntington’s disease (HD) is an autosomal dominant, fully penetrant, neurodegenerative disease that most commonly affects middle-aged adults. HD is caused by a CAG repeat expansion in the HTT gene, resulting in the expression of mutant huntingtin (mHTT). Our aim was to detect and quantify mHTT in tear fluid, which, to our knowledge, has never been measured before.
Methods
We recruited 20 manifest and 13 premanifest HD gene expansion carriers, and 20 age-matched controls. All patients underwent detailed assessments, including the Unified Huntington’s Disease Rating Scale (UHDRS) total motor score (TMS) and total functional capacity (TFC) score. Tear fluid was collected using paper Schirmer’s strips. The level of tear mHTT was determined using single-molecule counting SMCxPRO technology.
Results
The average tear mHTT levels in manifest (67,223 ± 80,360 fM) and premanifest patients (55,561 ± 45,931 fM) were significantly higher than those in controls (1,622 ± 2,179 fM). We noted significant correlations between tear mHTT levels and CAG repeat length, “estimated years to diagnosis,” disease burden score and UHDRS TMS and TFC. The receiver operating curve demonstrated an almost perfect score (area under the curve [AUC] = 0.9975) when comparing controls to manifest patients. Similarly, the AUC between controls and premanifest patients was 0.9846. The optimal cutoff value for distinguishing between controls and manifest patients was 4,544 fM, whereas it was 6,596 fM for distinguishing between controls and premanifest patients.
Conclusion
Tear mHTT has potential for early and noninvasive detection of alterations in HD patients and could be integrated into both clinical trials and clinical diagnostics.

Citations

Citations to this article as recorded by

Unveiling brain disorders using liquid biopsy and Raman spectroscopy
Jeewan C. Ranasinghe, Ziyang Wang, Shengxi Huang
Nanoscale.2024; 16(25): 11879. CrossRef
Ocular tear fluid biomarkers collected by contact lenses
Nikolay Boychev, Vincent Yeung, Menglu Yang, Levi N. Kanu, Amy E. Ross, Liangju Kuang, Lin Chen, Joseph B. Ciolino
Biochemical and Biophysical Research Communications.2024; 734: 150744. CrossRef

Caregiver Burden of Patients With Huntington’s Disease in South Korea: Chan Young Lee, Chaewon Shin, Yun Su Hwang, Eungseok Oh, Manho Kim, Hyun Sook Kim, Sun Ju Chung, Young Hee Sung, Won Tae Yoon, Jin Whan Cho, Jae-Hyeok Lee, Han-Joon Kim, Hee Jin Chang, Beomseok Jeon, Kyung Ah Woo, Seong-Beom Koh, Kyum-Yil Kwon, Jangsup Moon, Young Eun Kim, Jee-Young Lee; J Mov Disord. 2024;17(1):30-37. Published online September 11, 2023; DOI: https://doi.org/10.14802/jmd.23134

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Abstract PDF Supplementary Material

Objective
This is the first prospective cohort study of Huntington’s disease (HD) in Korea. This study aimed to investigate the caregiver burden in relation to the characteristics of patients and caregivers.
Methods
From August 2020 to February 2022, we enrolled patients with HD from 13 university hospitals in Korea. We used the 12-item Zarit Burden Interview (ZBI-12) to evaluate the caregiver burden. We evaluated the clinical associations of the ZBI-12 scores by linear regression analysis and investigated the differences between the low- and high-burden groups.
Results
Sixty-five patients with HD and 45 caregivers were enrolled in this cohort study. The average age at onset of motor symptoms was 49.3 ± 12.3 years, with an average cytosine-adenine-guanine (CAG)n of 42.9 ± 4.0 (38–65). The median ZBI-12 score among our caregivers was 17.6 ± 14.2. A higher caregiver burden was associated with a more severe Shoulson–Fahn stage (p = 0.038) of the patients. A higher ZBI-12 score was also associated with lower independence scale (B = -0.154, p = 0.006) and functional capacity (B = -1.082, p = 0.002) scores of patients. The caregiving duration was longer in the high- than in the low-burden group. Caregivers’ demographics, blood relation, and marital and social status did not affect the burden significantly.
Conclusion
HD patients’ neurological status exerts an enormous impact on the caregiver burden regardless of the demographic or social status of the caregiver. This study emphasizes the need to establish an optimal support system for families dealing with HD in Korea. A future longitudinal analysis could help us understand how disease progression aggravates the caregiver burden throughout the entire disease course.

Citations

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Non-Pharmacological Interventions for Caregivers of People with Motor Neurone Disease: A Scoping Review of Psychosocial Outcomes
Chidera Okoh, Leighanne Mayall, Selina M. Makin, Cliff Chen, Nicolò Zarotti
Brain Sciences.2025; 15(2): 112. CrossRef
A Practical Guide for Clinical Approach to Patients With Huntington’s Disease in Korea
Chaewon Shin, Ryul Kim, Dallah Yoo, Eungseok Oh, Jangsup Moon, Minkyeong Kim, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon
Journal of Movement Disorders.2024; 17(2): 138. CrossRef
Attitude toward physical activity among Asian American family caregivers of persons living with dementia
JiWon Choi, Van Park, Andrew Jung, Janice Tsoh
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Spatiotemporal Gait Parameters in Adults With Premanifest and Manifest Huntington’s Disease: A Systematic Review: Sasha Browning, Stephanie Holland, Ian Wellwood, Belinda Bilney; J Mov Disord. 2023;16(3):307-320. Published online August 10, 2023; DOI: https://doi.org/10.14802/jmd.23111

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Abstract PDF Supplementary Material

Objective
To systematically review and critically evaluate literature on spatiotemporal gait deviations in individuals with premanifest and manifest Huntington’s Disease (HD) in comparison with healthy cohorts.
Methods
We conducted a systematic review, guided by the Joanna Briggs Institute’s Manual for Evidence Synthesis and pre-registered with the International Prospective Register of Systematic Reviews. Eight electronic databases were searched. Studies comparing spatiotemporal footstep parameters in adults with premanifest and manifest HD to healthy controls were screened, included and critically appraised by independent reviewers. Data on spatiotemporal gait changes and variability were extracted and synthesised. Meta-analysis was performed on gait speed, cadence, stride length and stride length variability measures.
Results
We screened 2,721 studies, identified 1,245 studies and included 25 studies (total 1,088 participants). Sample sizes ranged from 14 to 96. Overall, the quality of the studies was assessed as good, but reporting of confounding factors was often unclear. Meta-analysis found spatiotemporal gait deviations in participants with HD compared to healthy controls, commencing in the premanifest stage. Individuals with premanifest HD walk significantly slower (-0.17 m/s; 95% confidence interval [CI] [-0.22, -0.13]), with reduced cadence (-6.63 steps/min; 95% CI [-10.62, -2.65]) and stride length (-0.09 m; 95% CI [-0.13, -0.05]). Stride length variability was also increased in premanifest cohorts by 2.18% (95% CI [0.69, 3.68]), with these changes exacerbated in participants with manifest disease.
Conclusion
Findings suggest individuals with premanifest and manifest HD display significant spatiotemporal footstep deviations. Clinicians could monitor individuals in the premanifest stage of disease for gait changes to identify the onset of Huntington’s symptoms.

Citations

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The association between gait speed and falls in ambulatory adults with spinal muscular atrophy: a retrospective pilot study
Kathryn Jira, Andrea Jaworek, Matti Allen, Songzhu Zhao, Kristina Kelly, W. David Arnold, Bakri Elsheikh
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Review Article

Gene Therapy for Huntington’s Disease: The Final Strategy for a Cure?: Seulgi Byun, Mijung Lee, Manho Kim; J Mov Disord. 2022;15(1):15-20. Published online November 17, 2021; DOI: https://doi.org/10.14802/jmd.21006

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Abstract PDF

Huntington’s disease (HD) has become a target of the first clinical trials for gene therapy among movement disorders with a genetic origin. More than 100 clinical trials regarding HD have been tried, but all failed, although there were some improvements limited to symptomatic support. Compared to other neurogenetic disorders, HD is known to have a single genetic target. Thus, this is an advantage and its cure is more feasible than any other movement disorder with heterogeneous genetic causes. In this review paper, the authors attempt to cover the characteristics of HD itself while providing an overview of the gene transfer methods currently being researched, and will introduce an experimental trial with a preclinical model of HD followed by an update on the ongoing clinical trials for patients with HD.

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Current Reviews in Clinical and Experimental Pharmacology.2025; 20(1): 14. CrossRef
Bioinspired Approaches for Central Nervous System Targeted Gene Delivery
Jyotish Kumar, Afroz Karim, Ummy Habiba Sweety, Hemen Sarma, Md Nurunnabi, Mahesh Narayan
ACS Applied Bio Materials.2024; 7(8): 4975. CrossRef
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Movement Disorders.2024; 39(2): 227. CrossRef
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Eli BenDavid, Sina Ramezanian, Yaoyao Lu, Joël Rousseau, Avi Schroeder, Marc Lavertu, Jacques P. Tremblay
Pharmaceuticals.2024; 17(6): 763. CrossRef
Exploring molecular mechanisms, therapeutic strategies, and clinical manifestations of Huntington’s disease
Alaa Shafie, Amal Adnan Ashour, Saleha Anwar, Farah Anjum, Md. Imtaiyaz Hassan
Archives of Pharmacal Research.2024; 47(6): 571. CrossRef
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Livia Zhou, Yafeng Wang, Yiran Xu, Yaodong Zhang, Changlian Zhu
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Cureus.2024;[Epub] CrossRef
Neurofilament light chain: a biomarker at the crossroads of clarity and confusion for gene-directed therapies
Michael Christian A Virata, Jesus Alfonso Catahay, Giuseppe Lippi, Brandon M Henry
Neurodegenerative Disease Management.2024; 14(6): 227. CrossRef
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Human Gene Therapy.2023;[Epub] CrossRef
CRISPR: a tool with potential for genomic reprogramming in neurological disorders
Yogesh K. Dhuriya, Aijaz A. Naik
Molecular Biology Reports.2023; 50(2): 1845. CrossRef
Gene therapy for selected neuromuscular and trinucleotide repeat disorders – An insight to subsume South Asia for multicenter clinical trials
Nalaka Wijekoon, Lakmal Gonawala, Pyara Ratnayake, Darshana Sirisena, Harsha Gunasekara, Athula Dissanayake, Sunethra Senanayake, Ajantha Keshavaraj, Yetrib Hathout, Harry W.M. Steinbusch, Chandra Mohan, Ashwin Dalal, Eric Hoffman, K.Ranil D de Silva
IBRO Neuroscience Reports.2023; 14: 146. CrossRef
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Hannah J. Van de Roovaart, Nguyen Nguyen, Timothy D. Veenstra
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Marie Vanisova, Hana Stufkova, Michaela Kohoutova, Tereza Rakosnikova, Jana Krizova, Jiri Klempir, Irena Rysankova, Jan Roth, Jiri Zeman, Hana Hansikova
Ultrastructural Pathology.2022; 46(5): 462. CrossRef
Pathogenesis of Huntington’s Disease: An Emphasis on Molecular Pathways and Prevention by Natural Remedies
Zainab Irfan, Sofia Khanam, Varnita Karmakar, Sayeed Mohammed Firdous, Bothaina Samih Ismail Abou El Khier, Ilyas Khan, Muneeb U. Rehman, Andleeb Khan
Brain Sciences.2022; 12(10): 1389. CrossRef

Original Articles

Quantitative Gait Analysis in Patients with Huntington’s Disease: Seon Jong Pyo, Hanjun Kim, Il Soo Kim, Young-Min Park, Mi-Jung Kim, Hye Mi Lee, Seong-Beom Koh; J Mov Disord. 2017;10(3):140-144. Published online August 31, 2017; DOI: https://doi.org/10.14802/jmd.17041

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Abstract PDF

Objective
Gait disturbance is the main factor contributing to a negative impact on quality of life in patients with Huntington’s disease (HD). Understanding gait features in patients with HD is essential for planning a successful gait strategy. The aim of this study was to investigate temporospatial gait parameters in patients with HD compared with healthy controls.
Methods
We investigated 7 patients with HD. Diagnosis was confirmed by genetic analysis, and patients were evaluated with the Unified Huntington’s Disease Rating Scale (UHDRS). Gait features were assessed with a gait analyzer. We compared the results of patients with HD to those of 7 age- and sex-matched normal controls.
Results
Step length and stride length were decreased and base of support was increased in the HD group compared to the control group. In addition, coefficients of variability for step and stride length were increased in the HD group. The HD group showed slower walking velocity, an increased stance/swing phase in the gait cycle and a decreased proportion of single support time compared to the control group. Cadence did not differ significantly between groups. Among the UHDRS subscores, total motor score and total behavior score were positively correlated with step length, and total behavior score was positively correlated with walking velocity in patients with HD.
Conclusion
Increased variability in step and stride length, slower walking velocity, increased stance phase, and decreased swing phase and single support time with preserved cadence suggest that HD gait patterns are slow, ataxic and ineffective. This study suggests that quantitative gait analysis is needed to assess gait problems in HD.

Citations

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Eye Movement and Gait Variability Analysis in Chinese Patients With Huntington’s Disease
Shu-Xia Qian, Yu-Feng Bao, Xiao-Yan Li, Yi Dong, Zhi-Ying Wu
Journal of Movement Disorders.2025; 18(1): 65. CrossRef
Sensor-Based Locomotion Data Mining for Supporting the Diagnosis of Neurodegenerative Disorders: A Survey
Samaneh Zolfaghari, Sumaiya Suravee, Daniele Riboni, Kristina Yordanova
ACM Computing Surveys.2024; 56(1): 1. CrossRef
The semicircular canal function is preserved with little impact on falls in patients with mild Parkinson's disease
Jun-Pyo Hong, Hanim Kwon, Euyhyun Park, Sun-Uk Lee, Chan-Nyoung Lee, Byung-Jo Kim, Ji-Soo Kim, Kun-Woo Park
Parkinsonism & Related Disorders.2024; 118: 105933. CrossRef
Gene-dosage- and sex-dependent differences in the prodromal-Like phase of the F344tgHD rat model for Huntington disease
Veronika Ratz-Wirsching, Johanna Habermeyer, Sandra Moceri, Julia Harrer, Christoph Schmitz, Stephan von Hörsten
Frontiers in Neuroscience.2024;[Epub] CrossRef
Vision-based motion capture for the gait analysis of neurodegenerative diseases: A review
David Sing Yee Vun, Robert Bowers, Anthony McGarry
Gait & Posture.2024; 112: 95. CrossRef
Estimation of Gait Parameters in Huntington’s Disease Using Wearable Sensors in the Clinic and Free-living Conditions
Manuel Lozano-García, Emer P. Doheny, Elliot Mann, Philippa Morgan-Jones, Cheney Drew, Monica Busse-Morris, Madeleine M. Lowery
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Huan Zhao, Junyi Cao, Junxiao Xie, Wei-Hsin Liao, Yaguo Lei, Hongmei Cao, Qiumin Qu, Chris Bowen
DIGITAL HEALTH.2023;[Epub] CrossRef
Spatiotemporal Gait Parameters in Adults With Premanifest and Manifest Huntington’s Disease: A Systematic Review
Sasha Browning, Stephanie Holland, Ian Wellwood, Belinda Bilney
Journal of Movement Disorders.2023; 16(3): 307. CrossRef
Walking pattern analysis using GAIT cycles and silhouettes for clinical applications
S.M.H. Sithi Shameem Fathima, K.A. Jyotsna, Thiruveedula Srinivasulu, Kande Archana, M. Tulasi rama, S. Ravichand
Measurement: Sensors.2023; 30: 100893. CrossRef
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PLOS ONE.2020; 15(1): e0226827. CrossRef
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Journal of Neurology.2020; 267(6): 1594. CrossRef
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Sensors.2020; 20(14): 3857. CrossRef
Cerebral dopamine neurotrophic factor (CDNF) protects against quinolinic acid-induced toxicity in in vitro and in vivo models of Huntington’s disease
P. Stepanova, V. Srinivasan, D. Lindholm, M. H. Voutilainen
Scientific Reports.2020;[Epub] CrossRef
Rapid and robust patterns of spontaneous locomotor deficits in mouse models of Huntington’s disease
Taneli Heikkinen, Timo Bragge, Niina Bhattarai, Teija Parkkari, Jukka Puoliväli, Outi Kontkanen, Patrick Sweeney, Larry C. Park, Ignacio Munoz-Sanjuan, Yuqing Li
PLOS ONE.2020; 15(12): e0243052. CrossRef
Rule based classification of neurodegenerative diseases using data driven gait features
Kartikay Gupta, Aayushi Khajuria, Niladri Chatterjee, Pradeep Joshi, Deepak Joshi
Health and Technology.2019; 9(4): 547. CrossRef
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ACS Chemical Neuroscience.2019; 10(9): 3969. CrossRef
Gait Biomarkers Classification by Combining Assembled Algorithms and Deep Learning: Results of a Local Study
Eddy Sánchez-DelaCruz, Roberto Weber, R. R. Biswal, Jose Mejía, Gandhi Hernández-Chan, Heberto Gómez-Pozos
Computational and Mathematical Methods in Medicine.2019; 2019: 1. CrossRef

Exosome-Based Delivery of miR-124 in a Huntington’s Disease Model: Soon-Tae Lee, Wooseok Im, Jae-Jun Ban, Mijung Lee, Keun-Hwa Jung, Sang Kun Lee, Kon Chu, Manho Kim; J Mov Disord. 2017;10(1):45-52. Published online January 18, 2017; DOI: https://doi.org/10.14802/jmd.16054

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Abstract PDF

Objective
Huntington’s disease (HD) is a genetic neurodegenerative disease that is caused by abnormal CAG expansion. Altered microRNA (miRNA) expression also causes abnormal gene regulation in this neurodegenerative disease. The delivery of abnormally downregulated miRNAs might restore normal gene regulation and have a therapeutic effect.
Methods
We developed an exosome-based delivery method to treat this neurodegenerative disease. miR-124, one of the key miRNAs that is repressed in HD, was stably overexpressed in a stable cell line. Exosomes were then harvested from these cells using an optimized protocol. The exosomes (Exo-124) exhibited a high level of miR-124 expression and were taken up by recipient cells.
Results
When Exo-124 was injected into the striatum of R6/2 transgenic HD mice, expression of the target gene, RE1-Silencing Transcription Factor, was reduced. However, Exo-124 treatment did not produce significant behavioral improvement.
Conclusion
This study serves as a proof of concept for exosome-based delivery of miRNA in neurodegenerative diseases.

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International Journal of Molecular Sciences.2024; 25(13): 7371. CrossRef
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PLOS ONE.2024; 19(9): e0308095. CrossRef
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European Journal of Neuroscience.2024; 60(8): 6057. CrossRef
MicroRNAs regulation in Parkinson’s disease, and their potential role as diagnostic and therapeutic targets
Nour Shaheen, Ahmed Shaheen, Mahmoud Osama, Abdulqadir J. Nashwan, Vishal Bharmauria, Oliver Flouty
npj Parkinson's Disease.2024;[Epub] CrossRef
Exosomes as nanocarrier for Neurotherapy: Journey from application to challenges
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Journal of Drug Delivery Science and Technology.2024; 101: 106312. CrossRef
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Shuai Zhang, Yu Yang, Xinchen Lv, Xue Zhou, Wangqian Zhao, Linfeng Meng, Shaohua Zhu, Zhixiang Zhang, Ying Wang
Brain Sciences.2024; 14(11): 1049. CrossRef
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Survival of Korean Huntington’s Disease Patients: Han-Joon Kim, Chae-Won Shin, Beomseok Jeon, Hyeyoung Park; J Mov Disord. 2016;9(3):166-170. Published online September 21, 2016; DOI: https://doi.org/10.14802/jmd.16022

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Abstract PDF

Objective
The survival of Huntington’s disease (HD) patients is reported to be 15–20 years. However, most studies on the survival of HD have been conducted in patients without genetic confirmation with the possible inclusion of non-HD patients, and all studies have been conducted in Western countries. The survival of patients with HD in East Asia, where its prevalence is 10–50-fold lower compared with Western populations, has not yet been reported.
Methods
Forty-seven genetically confirmed Korean HD patients from independent families were included in this retrospective medical record review study.
Results
The mean age at onset among the 47 patients was 46.1 ± 14.0 years. At the time of data collection, 25 patients had died, and these patients had a mean age at death of 57.8 ± 13.7 years. The Kaplan-Meier estimate of the median survival from onset in the 47 patients was 14.5 years (95% confidence interval: 12.3–16.6). None of the following factors were associated with the survival time in the univariate Cox regression analysis: gender, age at onset, normal CAG repeat size, mutant CAG repeat size, and the absence or presence of non-motor symptoms at onset.
Conclusion
This is the first Asian study on survival in HD patients. Survival in Korean HD patients may be shorter than that reported for Western populations, or at least is in the lower range of expected survival. A larger longitudinal observation study is needed to confirm the results found in this study.

Citations

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Parkinsonism & Related Disorders.2024; 118: 105930. CrossRef
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Huntington’s disease in Turkey: genetic counseling, clinical features, and outcome
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PLOS Genetics.2018; 14(5): e1007274. CrossRef

Review Article

Untangling the Thorns: Advances in the Neuroacanthocytosis Syndromes: Ruth H. Walker; J Mov Disord. 2015;8(2):41-54. Published online May 31, 2015; DOI: https://doi.org/10.14802/jmd.15009

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Abstract PDF

There have been significant advances in neuroacanthocytosis (NA) syndromes in the past 20 years, however, confusion still exists regarding the precise nature of these disorders and the correct nomenclature. This article seeks to clarify these issues and to summarise the recent literature in the field. The four key NA syndromes are described here–chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, and pantothenate kinase- associated neurodegeneration. In the first two, acanthocytosis is a frequent, although not invariable, finding; in the second two, it occurs in approximately 10% of patients. Degeneration affecting the basal ganglia is the key neuropathologic finding, thus the clinical presentations can be remarkably similar. The characteristic phenotype comprises a variety of movement disorders, including chorea, dystonia, and parkinsonism, and also psychiatric and cognitive symptoms attributable to basal ganglia dysfunction. The age of onset, inheritance patterns, and ethnic background differ in each condition, providing diagnostic clues. Other investigations, including routine blood testing and neuroimaging can be informative. Genetic diagnosis, if available, provides a definitive diagnosis, and is important for genetic counseling, and hopefully molecular therapies in the future. In this article I provide a historical perspective on each NA syndrome. The first 3 disorders, chorea-acanthocytosis, McLeod syndrome, Huntington’s disease-like 2, are discussed in detail, with a comprehensive review of the literature to date for each, while pantothenate kinase-associated neurodegeneration is presented in summary, as this disorder has recently been reviewed in this journal. Therapy for all of these diseases is, at present, purely symptomatic.

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Neuro-Ophthalmology.2025; 49(1): 17. CrossRef
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Vadieh Ghodsinezhad, Abdoreza Ghoreishi, Mohammad Rohani, Mahdi Dadfar, Akbar Mohammadzadeh, Ali Rostami, Hamzeh Rahimi
Molecular Genetics and Genomics.2024;[Epub] CrossRef
Case report: Misdiagnosed orolingual dyskinesia as a consequence of seizures in a chorea-acanthocytosis patient with a novel VPS13A variation from a family with consanguineous marriage
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Frontiers in Neurology.2024;[Epub] CrossRef
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Frontiers in Neurology.2024;[Epub] CrossRef
Acupuncture for treating symptoms associated with chorea-acanthocytosis: A CARE-compliant case report
Qiqi Wu, Zengtu Li, Yingying Cheng, Hantong Hu, Hong Gao, Jiawei Wang, Dexiong Han
EXPLORE.2023; 19(1): 127. CrossRef
Two case reports of chorea-acanthocytosis and review of literature
Shuangfeng Huang, Junliang Zhang, Manli Tao, Yaodong Lv, Luyao Xu, Zhigang Liang
European Journal of Medical Research.2022;[Epub] CrossRef
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Kristina Kulcsarova, Janette Baloghova, Jan Necpal, Matej Skorvanek
Movement Disorders Clinical Practice.2022; 9(5): 566. CrossRef
The XK plasma membrane scramblase and the VPS13A cytosolic lipid transporter for ATP‐induced cell death
Yuta Ryoden, Shigekazu Nagata
BioEssays.2022;[Epub] CrossRef
Pallidus Stimulation for Chorea-Acanthocytosis: A Systematic Review and Meta-Analysis of Individual Data
Weibin He, Chenhui Li, Hongjuan Dong, Lingmin Shao, Bo Yin, Dianyou Li, Liguo Ye, Ping Hu, Chencheng Zhang, Wei Yi
Journal of Movement Disorders.2022; 15(3): 197. CrossRef
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Journal of Neuroradiology.2021; 48(6): 419. CrossRef
Prionopathies and Prionlike Protein Aberrations in Neurodegenerative Diseases
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Neurographics.2021; 11(2): 127. CrossRef
Brain F-18 FDG and F-18 FP-CIT PET/CT Findings of c.856_860delCTCTA Mutation McLeod Syndrome
Ho-Sung Ryu, Chae Moon Hong
Cognitive and Behavioral Neurology.2021; 34(3): 207. CrossRef
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Xueming Zhu, Lin Li, Jiaoyu Wang, Lili Zhao, Huanbin Shi, Jiandong Bao, Zhenzhu Su, Xiaohong Liu, Fucheng Lin
Journal of Fungi.2021; 7(12): 1084. CrossRef
Involuntary movements, vocalizations and cognitive decline
Olafur Sveinsson, Bjarne Udd, Per Svenningsson, Christoph Gassner, Charlotte Engström, José Laffita-Mesa, Göran Solders, Stellan Hertegård, Irina Savitcheva, Hans H. Jung, Markus Tolnay, Beat M. Frey, Martin Paucar
Parkinsonism & Related Disorders.2020; 79: 135. CrossRef
Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis
Fumio Suzuki, Noriko Sato, Miho Ota, Atsuhiko Sugiyama, Yoko Shigemoto, Emiko Morimoto, Yukio Kimura, Noritaka Wakasugi, Yuji Takahashi, Akinori Futamura, Mitsuru Kawamura, Kenjiro Ono, Masayuki Nakamura, Akira Sano, Masako Watanabe, Hiroshi Matsuda, Osam
Journal of the Neurological Sciences.2020; 408: 116545. CrossRef
Identification of two compound heterozygous VPS13A large deletions in chorea‐acanthocytosis only by protein and quantitative DNA analysis
Derek Spieler, Antonio Velayos‐Baeza, Alžbeta Mühlbäck, Florian Castrop, Christian Maegerlein, Julia Slotta‐Huspenina, Benedikt Bader, Bernhard Haslinger, Adrian Danek
Molecular Genetics & Genomic Medicine.2020;[Epub] CrossRef
Neuroacanthocytosis with unusual clinical features
Hui Zhu, Xue-min Feng, Teng Zhao, Jing-yao Liu
Medicine.2019; 98(2): e14050. CrossRef
VPS13A, a closely associated mitochondrial protein, is required for efficient lysosomal degradation
Sandra Muñoz-Braceras, Alba R. Tornero-Écija, Olivier Vincent, Ricardo Escalante
Disease Models & Mechanisms.2019;[Epub] CrossRef
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment
Nicki Niemann, Joseph Jankovic
Parkinsonism & Related Disorders.2019; 67: 74. CrossRef
Chorea
Pichet Termsarasab
CONTINUUM: Lifelong Learning in Neurology.2019; 25(4): 1001. CrossRef
Neuroacanthocytosis: a case report of chorea-acanthocytosis
Yuanyuan Xiang, Shan Li, Xiaohui Liu, Jifeng, Li, Qinjian, Sun, Yan, Chen, Yifeng Du, Junwei Wu
Journal of Integrative Neuroscience.2019;[Epub] CrossRef
Chorea-acanthocytosis
Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
Neurology Genetics.2018;[Epub] CrossRef
Huntington's disease-like disorders in Latin America and the Caribbean
Ruth H. Walker, Emilia M. Gatto, M. Leonor Bustamante, Oscar Bernal-Pacheco, Francisco Cardoso, Raphael M. Castilhos, Pedro Chana-Cuevas, Mario Cornejo-Olivas, Ingrid Estrada-Bellmann, Laura B. Jardim, Ricardo López-Castellanos, Ricardo López-Contreras, D
Parkinsonism & Related Disorders.2018; 53: 10. CrossRef
Feeding Dystonia
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Movement Disorders Clinical Practice.2018; 5(4): 442. CrossRef
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Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review
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Frontiers in Aging Neuroscience.2017;[Epub] CrossRef
Stepwise partitioning of Xp21: a profiling method for XK deletions causative of the McLeod syndrome
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Transfusion.2017; 57(9): 2125. CrossRef
Disruption of GABA(A)-mediated intracortical inhibition in patients with chorea-acanthocytosis
Raffaele Dubbioso, Marcello Esposito, Silvio Peluso, Rosa Iodice, Giuseppe De Michele, Lucio Santoro, Fiore Manganelli
Neuroscience Letters.2017; 654: 107. CrossRef
The First Genetically Confirmed McLeod Syndrome in Korea
Kye Won Park, Soo Jeong, Eul-Ju Seo, Chong S. Lee
Journal of the Korean Neurological Association.2017; 35(2): 85. CrossRef
Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea‐acanthocytosis: a case with clinical, pathologic and genetic evaluation
K. Mente, S. A. Kim, C. Grunseich, M. M. Hefti, J. F. Crary, A. Danek, B. I. Karp, R. H. Walker
Neuropathology and Applied Neurobiology.2017; 43(6): 542. CrossRef
Yeast and other lower eukaryotic organisms for studies of Vps13 proteins in health and disease
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Traffic.2017; 18(11): 711. CrossRef
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Journal of Neurology, Neurosurgery & Psychiatry.2017; 88(10): 846. CrossRef
Huntington's Disease, Huntington's Disease Look‐Alikes‎, and Benign Hereditary Chorea: What's New?
Susanne A. Schneider, Thomas Bird
Movement Disorders Clinical Practice.2016; 3(4): 342. CrossRef
Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
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Journal of Movement Disorders.2016; 9(1): 20. CrossRef
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach
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Current Neurology and Neuroscience Reports.2016;[Epub] CrossRef
Clinical variability of neuroacanthocytosis syndromes—a series of six patients with long follow-up
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Clinical Neurology and Neurosurgery.2016; 147: 78. CrossRef

Original Article

Current Status of Huntington’s Disease in Korea: A Nationwide Survey and National Registry Analysis: Hyun Sook Kim, Chul Hyoung Lyoo, Phil Hyu Lee, Sang Jin Kim, Mee Young Park, Hyeo-Il Ma, Jae Hyeok Lee, Sook Kun Song, Jong Sam Baik, Jin Ho Kim, Myung Sik Lee; J Mov Disord. 2015;8(1):14-20. Published online January 31, 2015; DOI: https://doi.org/10.14802/jmd.14038

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Abstract PDF

Objective Huntington’s disease (HD) is a rare neurological disorder, and its current status in Korea is not well investigated. This study aims to determine the prevalence and incidence of HD and to investigate the clinical features of HD patients in Korea.
Methods We estimated the crude prevalence and annual incidence of HD based on the databases of the Rare Diseases Registry (RDR) and the National Health Insurance (NHI). The clinical data of genetically confirmed HD patients was collected from 10 referral hospitals and analyzed.
Results The mean calculated annual incidence was 0.06 cases per 100,000 persons, and the mean calculated prevalence was 0.38 based on the NHI database. The estimated crude prevalence based on the RDR was 0.41. Of the sixty-eight HD patients recruited, the mean age of onset was 44.16 ± 14.08 years and chorea was most frequently reported as the initial symptom and chief complaint. The mean CAG repeat number of the expanded allele was 44.7 ± 4.8 and correlated inversely with the age of onset (p < 0.001). About two-thirds of the patients have a positive family history, and HD patients without positive family history showed a delay in onset of initial symptoms, a prolonged interval between initial symptom onset and genetic diagnosis and a delay in the age of genetic diagnosis.
Conclusions To the best of our knowledge, this is the first study to estimate the prevalence and incidence of HD in Korea and the largest HD series in the Asian population. Our analyses might be useful for further studies and large-scale investigations in HD patients.

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Review Article

Cell Therapy Strategies vs. Paracrine Effect in Huntington’s Disease: Wooseok Im, Manho Kim; J Mov Disord. 2014;7(1):1-6. Published online April 30, 2014; DOI: https://doi.org/10.14802/jmd.14001

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Abstract PDF

Huntington’s disease (HD) is a genetic neurodegenerative disorder. The most common symptom of HD is abnormal involuntary writhing movements, called chorea. Antipsychotics and tetrabenazine are used to alleviate the signs and symptoms of HD. Stem cells have been investigated for use in neurodegenerative disorders to develop cell therapy strategies. Recent evidence indicates that the beneficial effects of stem cell therapies are actually mediated by secretory molecules, as well as cell replacement. Although stem cell studies show that cell transplantation provides cellular improvement around lesions in in vivo models, further work is required to elucidate some issues before the clinical application of stem cells. These issues include the precise mechanism of action, delivery method, toxicity and safety. With a focus on HD, this review summarizes cell therapy strategies and the paracrine effect of stem cells.

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Original Article

Growth Hormone Deteriorates the Functional Outcome in an Experimental Model of Huntington’s Disease Induced by 3-Nitropionic Acid: Jung-Eun Park, Soon-Tae Lee, Woo-Seok Im, Manho Kim; J Mov Disord. 2013;6(2):28-33. Published online October 30, 2013; DOI: https://doi.org/10.14802/jmd.13007

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Abstract PDF

Background and Purpose:

Growth hormone (GH) has been frequently used to control the aging process in healthy individuals, probably due to its slowing effect on senescence-associated degeneration. Mitochondrial dysfunction is related to the aging process, and one of the chemical models of Huntington’s disease is that it can be induced by mitochondrial toxin. To investigate the potential application of GH to modify the progression of Huntington’s disease (HD), we examined whether GH can protect the functional deterioration by striatal damage induced by 3-nitropropionic acid (3NP).

Methods:

3NP (63 mg/kg/day) was delivered to Lewis rats by osmotic pumps for five consecutive days, and the rats received intraperitoneal administration of GH or vehicle (saline) throughout the experiment. Neurological deficits and body weight were monitored. A 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) test was performed to further determine the mitochondrial activity in cultured N18TG2 neuroblastoma cells in vitro.

Results:

3NP-treated rats showed progressive neurologic deficits with striatal damage. Application of GH accelerated behavioral deterioration, particularly between day 3 and day 5, resulting in reduced survival outcome. The body weights of rats given 3NP were decreased, but GH did not affect such decrease compared to the non-treated control group. The effect of GH on cultured neuronal cells was a decrease in the MTT absorbance, suggesting a lower number of cells in a dose dependent pattern.

Conclusions:

Those results suggest that application of GH to a 3NP-induced experimental model of HD deteriorates the progress of functional deficits, possibly disturbing mitochondrial activities.

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Review Article

MicroRNAs in Experimental Models of Movement Disorders: Soon-Tae Lee, Manho Kim; J Mov Disord. 2011;4(2):55-59.; DOI: https://doi.org/10.14802/jmd.11011

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Abstract PDF

MicroRNAs (miRNAs) are small RNAs comprised of 20–25 nucleotides that regulates gene expression by inducing translational repression or degradation of target mRNA. The importance of miRNAs as a mediator of disease pathogenesis and therapeutic targets is rapidly emerging in neuroscience, as well as oncology, immunology, and cardiovascular diseases. In Parkinson’s disease and related disorders, multiple studies have identified the implications of specific miRNAs and the polymorphisms of miRNA target genes during the disease pathogenesis. With a focus on Parkinson’s disease, spinocerebellar ataxia, hereditary spastic paraplegia, and Huntington’s disease, this review summarizes and interprets the observations, and proposes future research topics in this field.

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The Analyst.2021; 146(18): 5508. CrossRef
Depressive symptoms are associated with a functional polymorphism in a miR-433 binding site in the FGF20 gene
Karen M. Jiménez, Angela J. Pereira-Morales, Ana Adan, Sandra Lopez-Leon, Diego A. Forero
Molecular Brain.2018;[Epub] CrossRef
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Oncotarget.2017; 8(35): 59181. CrossRef
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EFSA Supporting Publications.2016;[Epub] CrossRef

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