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12 "Huntington’s disease"
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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
  • 953 View
  • 178 Download
AbstractAbstract PDFSupplementary Material
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.
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.
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.
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.
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
  • 2,183 View
  • 177 Download
  • 1 Crossref
AbstractAbstract PDFSupplementary Material
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.
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.
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.
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 to this article as recorded by  
  • 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
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
  • 1,352 View
  • 94 Download
AbstractAbstract PDFSupplementary Material
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.
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.
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.
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.
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
  • 7,263 View
  • 435 Download
  • 11 Web of Science
  • 10 Crossref
AbstractAbstract 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.


Citations to this article as recorded by  
  • The Huntington's Disease Gene Discovery
    Gustavo L. Franklin, Hélio A.G. Teive, Fernando Spina Tensini, Carlos Henrique Ferreira Camargo, Nayra de Souza Carvalho de Lima, Diego de Castro de dos Santos, Alex T. Meira, Sarah J. Tabrizi
    Movement Disorders.2024; 39(2): 227.     CrossRef
  • Optimizing Screening for Intrastriatal Interventions in Huntington's Disease Using Predictive Models
    Matthew J. Barrett, Ahmed Negida, Nitai Mukhopadhyay, Jin K. Kim, Huma Nawaz, Jefin Jose, Claudia Testa
    Movement Disorders.2024;[Epub]     CrossRef
  • Exosomes for neurodegenerative diseases: diagnosis and targeted therapy
    Hui Tao, Bo Gao
    Journal of Neurology.2024;[Epub]     CrossRef
  • Positron Emission Tomography Quantitative Assessment of Off-Target Whole-Body Biodistribution of I-124-Labeled Adeno-Associated Virus Capsids Administered to Cerebral Spinal Fluid
    Jonathan B. Rosenberg, Edward K. Fung, Jonathan P. Dyke, Bishnu P. De, Howard Lou, James M. Kelly, Layla Reejhsinghani, Rodolfo J. Ricart Arbona, Dolan Sondhi, Stephen M. Kaminsky, Nathalie Cartier, Christian Hinderer, Juliette Hordeaux, James M. Wilson,
    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
  • Huntington’s Disease Drug Development: A Phase 3 Pipeline Analysis
    Hannah J. Van de Roovaart, Nguyen Nguyen, Timothy D. Veenstra
    Pharmaceuticals.2023; 16(11): 1513.     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.2023;[Epub]     CrossRef
  • Mitochondrial organization and structure are compromised in fibroblasts from patients with Huntington’s disease
    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
  • 7,296 View
  • 141 Download
  • 17 Web of Science
  • 19 Crossref
AbstractAbstract PDF
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.
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.
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.
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 to this article as recorded by  
  • 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
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    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 Vun Sing Yee, Robert Bowers, Anthony McGarry
    Gait & Posture.2024;[Epub]     CrossRef
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    Huan Zhao, Junyi Cao, Junxiao Xie, Wei-Hsin Liao, Yaguo Lei, Hongmei Cao, Qiumin Qu, Chris Bowen
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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
    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
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  • Human Gait Analysis in Neurodegenerative Diseases: A Review
    Grazia Cicirelli, Donato Impedovo, Vincenzo Dentamaro, Roberto Marani, Giuseppe Pirlo, Tiziana R. D'Orazio
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    Febryan Setiawan, An-Bang Liu, Che-Wei Lin
    IEEE Access.2022; 10: 38137.     CrossRef
  • Artificial intelligence in neurodegenerative diseases: A review of available tools with a focus on machine learning techniques
    Alexandra-Maria Tăuţan, Bogdan Ionescu, Emiliano Santarnecchi
    Artificial Intelligence in Medicine.2021; 117: 102081.     CrossRef
  • Identification of Neurodegenerative Diseases Based on Vertical Ground Reaction Force Classification Using Time–Frequency Spectrogram and Deep Learning Neural Network Features
    Febryan Setiawan, Che-Wei Lin
    Brain Sciences.2021; 11(7): 902.     CrossRef
  • The effects of dual-task cognitive interference on gait and turning in Huntington’s disease
    Nicollette L. Purcell, Jennifer G. Goldman, Bichun Ouyang, Yuanqing Liu, Bryan Bernard, Joan A. O’Keefe, Pedro Gonzalez-Alegre
    PLOS ONE.2020; 15(1): e0226827.     CrossRef
  • Gait variability as digital biomarker of disease severity in Huntington’s disease
    Heiko Gaßner, Dennis Jensen, F. Marxreiter, Anja Kletsch, Stefan Bohlen, Robin Schubert, Lisa M. Muratori, Bjoern Eskofier, Jochen Klucken, Jürgen Winkler, Ralf Reilmann, Zacharias Kohl
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    Che-Wei Lin, Tzu-Chien Wen, Febryan Setiawan
    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
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  • 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
  • Discovery of Arginine Ethyl Ester as Polyglutamine Aggregation Inhibitor: Conformational Transitioning of Huntingtin N-Terminus Augments Aggregation Suppression
    Virender Singh, Kinjal A. Patel, Raj Kumar Sharma, Pratik R. Patil, Abhayraj S. Joshi, Rashmi Parihar, Thamarailingam Athilingam, Neeraj Sinha, Subramaniam Ganesh, Pradip Sinha, Ipsita Roy, Ashwani Kumar Thakur
    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
  • 16,560 View
  • 368 Download
  • 109 Web of Science
  • 94 Crossref
AbstractAbstract PDF
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.
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.
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.
This study serves as a proof of concept for exosome-based delivery of miRNA in neurodegenerative diseases.


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  • Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease
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    Renjie Pan, Dongdong Chen, Lanlan Hou, Rong Hu, Zhigang Jiao
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    Biomolecules.2023; 13(8): 1250.     CrossRef
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    Translational Neurodegeneration.2023;[Epub]     CrossRef
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    Gayatri Gopal Shetgaonkar, Shirleen Miriam Marques, Cleona E. M. DCruz, R. J. A. Vibhavari, Lalit Kumar, Rupesh Kalidas Shirodkar
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    Ruoning Wang, Xiaohong Wang, Yuting Zhang, Huacong Zhao, Jiwei Cui, Junsong Li, Liuqing Di
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    Yi Yan, Xiao-Yu Liu, An Lu, Xiang-Yu Wang, Lin-Xia Jiang, Jian-Cheng Wang
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    Molecular Neurobiology.2022; 59(5): 2694.     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
  • 15,648 View
  • 152 Download
  • 11 Web of Science
  • 12 Crossref
AbstractAbstract PDF
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.
Forty-seven genetically confirmed Korean HD patients from independent families were included in this retrospective medical record review study.
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.
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.


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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
  • 28,700 View
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AbstractAbstract 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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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
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AbstractAbstract 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
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AbstractAbstract 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
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AbstractAbstract 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).


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.


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.


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.
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AbstractAbstract 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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