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Review Article
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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
  • 700 View
  • 56 Download
  • 1 Comments
AbstractAbstract 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.
Letter to the editor
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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay Masquerading as Charcot-Marie-Tooth Disease: A Case Study and Literature Review of Korean Patients
Yongmoo Kim, Seungbok Lee, Jae So Cho, Jihoon G Yoon, Sheehyun Kim, Man Jin Kim, Jong Hee Chae, Manho Kim, Jangsup Moon
J Mov Disord. 2025;18(1):93-95.   Published online July 9, 2024
DOI: https://doi.org/10.14802/jmd.24054
  • 1,113 View
  • 103 Download
PDFSupplementary Material
Viewpoint
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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
J Mov Disord. 2024;17(2):138-149.   Published online March 12, 2024
DOI: https://doi.org/10.14802/jmd.24040
  • 3,502 View
  • 164 Download
  • 2 Comments
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Original Article
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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
  • 4,411 View
  • 506 Download
  • 1 Web of Science
  • 3 Crossref
  • 1 Comments
AbstractAbstract PDFSupplementary 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

Citations to this article as recorded by  
  • 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
    Geriatric Nursing.2024;[Epub]     CrossRef
Letters to the editor
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First Cases of Spinocerebellar Ataxia 42 in Two Korean Families
Hyoshin Son, Jihoon G. Yoon, Man Jin Kim, Jangsup Moon, Han-Joon Kim
J Mov Disord. 2023;16(1):110-113.   Published online January 12, 2023
DOI: https://doi.org/10.14802/jmd.22150
  • 2,336 View
  • 61 Download
  • 2 Web of Science
  • 2 Crossref
PDFSupplementary Material

Citations

Citations to this article as recorded by  
  • Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
    Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho
    npj Genomic Medicine.2024;[Epub]     CrossRef
  • Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia
    Haoran Huang, Vikram G. Shakkottai
    Life.2023; 13(6): 1350.     CrossRef
Article image
A Case of AOA2 With Compound Heterozygous SETX Mutations
Hee Jin Chang, Ryul Kim, Minchae Kim, Jangsup Moon, Man Jin Kim, Han-Joon Kim
J Mov Disord. 2022;15(2):178-180.   Published online December 24, 2021
DOI: https://doi.org/10.14802/jmd.21139
  • 3,483 View
  • 243 Download
  • 1 Web of Science
  • 1 Crossref
PDF

Citations

Citations to this article as recorded by  
  • Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
    Jong Hyeon Ahn, Jihoon G. Yoon, Jaeso Cho, Seungbok Lee, Sheehyun Kim, Man Jin Kim, Soo Yeon Kim, Soon-Tae Lee, Kon Chu, Sang Kun Lee, Han-Joon Kim, Jinyoung Youn, Ja-Hyun Jang, Jong-Hee Chae, Jangsup Moon, Jin Whan Cho
    npj Genomic Medicine.2024;[Epub]     CrossRef
Review Article
Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders
Wooseok Im, Jangsup Moon, Manho Kim
J Mov Disord. 2016;9(3):136-143.   Published online September 21, 2016
DOI: https://doi.org/10.14802/jmd.16029
  • 22,233 View
  • 645 Download
  • 15 Web of Science
  • 11 Crossref
AbstractAbstract PDF
Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington’s disease, and Parkinson’s disease. Genome editing is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome using modified nucleases. Recently, clustered regularly interspaced short palindromic repeat/CRISPR associated protein 9 (CRISPR/Cas9) has been used as an essential tool in biotechnology. Cas9 is an RNA-guided DNA endonuclease enzyme that was originally associated with the adaptive immune system of Streptococcus pyogenes and is now being utilized as a genome editing tool to induce double strand breaks in DNA. CRISPR/Cas9 has advantages in terms of clinical applicability over other genome editing technologies such as zinc-finger nucleases and transcription activator-like effector nucleases because of easy in vivo delivery. Here, we review and discuss the applicability of CRISPR/Cas9 to preclinical studies or gene therapy in hereditary movement disorders.

Citations

Citations to this article as recorded by  
  • Effects of Electroporation Timing and Cumulus Cell Attachment on In Vitro Development and Genome Editing of Porcine Embryos
    Nanaka Torigoe, Qingyi Lin, Bin Liu, Yuichiro Nakayama, Aya Nakai, Megumi Nagahara, Fuminori Tanihara, Maki Hirata, Takeshige Otoi
    Reproduction in Domestic Animals.2025;[Epub]     CrossRef
  • Current Status and Future Perspectives on Stem Cell-Based Therapies for Parkinson’s Disease
    Young Cha, Tae-Yoon Park, Pierre Leblanc, Kwang-Soo Kim
    Journal of Movement Disorders.2023; 16(1): 22.     CrossRef
  • Crispr-a novel approach towards a fortified immune system
    Vasudevan Ranganathan, Padma Madham, Prerana Shankpal, Charitha Sheri
    Journal of Microbiology & Experimentation.2023; 11(3): 73.     CrossRef
  • Gene Therapy Approach with an Emphasis on Growth Factors: Theoretical and Clinical Outcomes in Neurodegenerative Diseases
    Della Grace Thomas Parambi, Khalid Saad Alharbi, Rajesh Kumar, Seetha Harilal, Gaber El-Saber Batiha, Natália Cruz-Martins, Omnia Magdy, Arafa Musa, Dibya Sundar Panda, Bijo Mathew
    Molecular Neurobiology.2022; 59(1): 191.     CrossRef
  • Effects of the timing of electroporation during in vitro maturation on triple gene editing in porcine embryos using CRISPR/Cas9 system
    Zhao Namula, Manita Wittayarat, Lanh Thi Kim Do, Thanh Van Nguyen, Qingyi Lin, Koki Takebayashi, Maki Hirata, Fuminori Tanihara, Takeshige Otoi
    Veterinary and Animal Science.2022; 16: 100241.     CrossRef
  • Will CRISPR-Cas9 Have Cards to Play Against Cancer? An Update on its Applications
    Precilla S. Daisy, Kuduvalli S. Shreyas, T. S. Anitha
    Molecular Biotechnology.2021; 63(2): 93.     CrossRef
  • The significance of bioengineered nanoplatforms against SARS-CoV-2: From detection to genome editing
    Parichehr Hassanzadeh
    Life Sciences.2021; 274: 119289.     CrossRef
  • CRISPR/Cas9 Technology as a Modern Genetic Manipulation Tool for Recapitulating of Neurodegenerative Disorders in Large Animal Models
    Mahdi Barazesh, Shiva Mohammadi, Yadollah Bahrami, Pooneh Mokarram, Mohammad Hossein Morowvat, Massoud Saidijam, Morteza Karimipoor, Soudabeh Kavousipour, Amir Reza Vosoughi, Korosh Khanaki
    Current Gene Therapy.2021; 21(2): 130.     CrossRef
  • La edición del ADN
    Ithzayana Madariaga-Perpiñan, Juan Camilo Duque-Restrepo, Paola Ayala-Ramirez, Reggie García-Robles
    Iatreia.2020; 33(3): 262.     CrossRef
  • Mucuna pruriens in Parkinson’s and in some other diseases: recent advancement and future prospective
    Sachchida Nand Rai, Vivek K. Chaturvedi, Payal Singh, Brijesh Kumar Singh, M. P. Singh
    3 Biotech.2020;[Epub]     CrossRef
  • Current Approaches to the Treatment of Hunter Syndrome
    Ekaterina Yu. Zakharova, Elena Yu. Voskoboeva, Alla N. Semyachkina, Nato D. Vashakmadze, Amina I. Gamzatova, Svetlana V. Mikhailova, Sergey I. Kutsev
    Pediatric pharmacology.2018; 15(4): 324.     CrossRef

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