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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
  • 1,064 View
  • 102 Download
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.
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
  • 17,359 View
  • 123 Download
  • 20 Web of Science
  • 19 Crossref
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.

Citations

Citations to this article as recorded by  
  • Analysis of HTT CAG repeat expansion among healthy individuals and patients with chorea in Korea
    Ryul Kim, Moon-Woo Seong, Bumjo Oh, Ho Seop Shin, Jee-Soo Lee, Sangmin Park, Mihee Jang, Beomseok Jeon, Han-Joon Kim, Jee-Young Lee
    Parkinsonism & Related Disorders.2024; 118: 105930.     CrossRef
  • Epidemiology of Chronic Inflammatory Demyelinating Polyneuropathy in South Korea: A Population-Based Study
    Sohee Jung, Gucheol Jung, Dayoung Kim, Jeeyoung Oh, Kyomin Choi
    Journal of Clinical Neurology.2023; 19(6): 558.     CrossRef
  • Increased 10-Year Prevalence of Huntington’s Disease in South Korea: An Analysis of Medical Expenditure Through the National Healthcare System
    Chan Young Lee, Jun-soo Ro, Hyemin Jung, Manho Kim, Beomseok Jeon, Jee-Young Lee
    Journal of Clinical Neurology.2023; 19(2): 147.     CrossRef
  • Global Epidemiology of Movement Disorders: Rare or Underdiagnosed?
    Sarah A. O'Shea, Ludy C. Shih
    Seminars in Neurology.2023; 43(01): 004.     CrossRef
  • Huntington’s Disease in Chile: Epidemiological and Genetic Aspects
    Ernesto Solís-Añez, Philippe A. Salles, Natalia Rojas, Olga Benavides, Pedro Chaná-Cuevas
    Neuroepidemiology.2023; 57(3): 176.     CrossRef
  • Epidemiology of Acute Leukemia among Children with Down Syndrome in Korea
    Young Bae Choi, Keon Hee Yoo
    Cancer Research and Treatment.2022; 54(2): 572.     CrossRef
  • Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in South Korean Women Based on National Health Insurance Service Data
    Sung Eun Kim, Sang Hyun Park, Kyungdo Han, Won Kyoung Cho, Byung-Kyu Suh, Yong-Gyu Park
    Yonsei Medical Journal.2022; 63(11): 991.     CrossRef
  • Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta‐Analysis
    Alex Medina, Yasamin Mahjoub, Larry Shaver, Tamara Pringsheim
    Movement Disorders.2022; 37(12): 2327.     CrossRef
  • Contemporary Status of Acute Myocardial Infarction in Korean Patients: Korean Registry of Acute Myocardial Infarction for Regional Cardiocerebrovascular Centers
    Rock Bum Kim, Jin Yong Hwang, Hyun Woong Park, Ae-Young Her, Jang Hoon Lee, Moo Hyun Kim, Chang Hwan Yoon, Jae Young Cho, Sung-Il Woo, Yongcheol Kim, Jae-Young Han, Joon Hyouk Choi, Song Yi Kim, Si Wan Choi, Sung Ju Jee, Sang Yeub Lee, Ki-Bum Won, Kyeong-
    Journal of Clinical Medicine.2021; 10(3): 498.     CrossRef
  • Huntington’s Disease in Israel: A Population-Based Study Using 20 Years of Routinely-Collected Healthcare Data
    Natalie Gavrielov-Yusim, Yael Barer, Michael Martinec, Athanasios Siadimas, Spyros Roumpanis, Hannah Furby, Inbal Goldshtein, Asif Jan, Preciosa M. Coloma
    Journal of Huntington's Disease.2021; 10(4): 469.     CrossRef
  • The Population Prevalence, Associations of Congenital Heart Defect and Mortality Risk for Down’s Syndrome in South Korea Based on National Health Insurance Service (NHIS) Data


    Won Kyoung Cho, Na Young Lee, Kyungdo Han, Byung-Kyu Suh, Yong-Gyu Park
    Clinical Epidemiology.2020; Volume 12: 519.     CrossRef
  • Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre
    Paula Sienes Bailo, Raquel Lahoz, Juan Pelegrín Sánchez Marín, Silvia Izquierdo Álvarez
    BMC Medical Genetics.2020;[Epub]     CrossRef
  • The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population
    Chris Kay, Jennifer A. Collins, Galen E.B. Wright, Fiona Baine, Zosia Miedzybrodzka, Folefac Aminkeng, Alicia J. Semaka, Cassandra McDonald, Mark Davidson, Steven J. Madore, Erynn S. Gordon, Norman P. Gerry, Mario Cornejo‐Olivas, Ferdinando Squitieri, Sar
    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.2018; 177(3): 346.     CrossRef
  • 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
    Journal of Movement Disorders.2017; 10(3): 140.     CrossRef
  • Epidemiological Study of Huntington's Disease in the Province of Ferrara, Italy
    Erika Carrassi, Maura Pugliatti, Vittorio Govoni, Mariachiara Sensi, Ilaria Casetta, Enrico Granieri
    Neuroepidemiology.2017; 49(1-2): 18.     CrossRef
  • The Epidemiology of Myasthenia Gravis in Korea
    Hyung Seok Lee, Hye Sun Lee, Ha Young Shin, Young-Chul Choi, Seung Min Kim
    Yonsei Medical Journal.2016; 57(2): 419.     CrossRef
  • The global prevalence of Huntington's disease: a systematic review and discussion
    Sheharyar Sajjad Baig, Mark Strong, Oliver WJ Quarrell
    Neurodegenerative Disease Management.2016; 6(4): 331.     CrossRef
  • Clinical and genetic characteristics in patients with Huntington’s disease from China
    Jing Yang, Ke Chen, Qianqian Wei, Yongping Chen, Bei Cao, Jean-Marc Burgunder, Hui-Fang Shang
    Neurological Research.2016; 38(10): 916.     CrossRef
  • Survival of Korean Huntington’s Disease Patients
    Han-Joon Kim, Chae-Won Shin, Beomseok Jeon, Hyeyoung Park
    Journal of Movement Disorders.2016; 9(3): 166.     CrossRef
The Relationship Between Plasma Homocysteine Level and C677T MTHFR Genotype in Drug-Naive Patients With Idiopathic Parkinson’s Disease
Il Hyung Lee, Hyun Sook Kim, Ok Joon Kim, Won Chan Kim, Myung Sik Lee
J Mov Disord. 2008;1(2):71-74.
DOI: https://doi.org/10.14802/jmd.08013
  • 8,667 View
  • 58 Download
AbstractAbstract PDF
Backgrounds:

The cause of idiopathic Parkinson’s disease (IPD) is unknown, but reduced activity of complex I of the electron-transport chain has been implicated in the pathogenesis of IPD. Hyperhomocysteinemia is a well-established risk factor for cardiovascular and cerebrovascular diseases. However, recent evidence suggests that changes in the metabolic fate of homocysteine, leading to hyperhomocysteinemia, may also play a role in the pathophysiology of IPD.

Methods:

Age and sex-matched 41 drug-naive IPD patients (16 men and 25 women) and 161 healthy controls (66 men and 95 women) were included in this study. Their fasting plasma homocystein and folate level, and the genotypes of methylenetetrahydrofolate reductase (MTHFR) were analyzed.

Results:

The plasma level of homocysteine was higher in untreated IPD patients (12.0±2.9 μmol/L) compared to the controls (9.0±2.6 μmol/L) (p =0.001). The frequencies of MTHFR C677T genotypes were not different between patients (CC:CT:TT=7:23:11) and controls (CC:CT:TT=27:86:48) (p =0.930). The adjusted odds ratio of homocysteine was remarkable (adjusted OR=1.149, 95% confidential interval=1.66–2.28, p =0.004).

Conclusions:

IPD patients have higher plasma homocysteine level than healthy controls but MTHFR C667T genotype was not related to the homocysteine level. It can be suggested that increased plasma homocysteine level may contribute to the pathogenesis of IPD.


JMD : Journal of Movement Disorders