Skip Navigation
Skip to contents

JMD : Journal of Movement Disorders

OPEN ACCESS
SEARCH
Search

Search

Page Path
HOME > Search
2 "CAG"
Filter
Filter
Article category
Keywords
Publication year
Authors
Original Article
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
  • 13,641 View
  • 143 Download
  • 6 Citations
AbstractAbstract 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

Citations to this article as recorded by  
  • Functional Intercellular Transmission of miHTT via Extracellular Vesicles: An In Vitro Proof-of-Mechanism Study
    Roberto D. V. S. Morais, Marina Sogorb-González, Citlali Bar, Nikki C. Timmer, M. Leontien Van der Bent, Morgane Wartel, Astrid Vallès
    Cells.2022; 11(17): 2748.     CrossRef
  • Huntington's disease: Mortality and risk factors in an Australian cohort
    Emily Sun, Matthew Kang, Pierre Wibawa, Vivian Tsoukra, Zhibin Chen, Sarah Farrand, Dhamidhu Eratne, Wendy Kelso, Andrew Evans, Mark Walterfang, Dennis Velakoulis, Samantha M. Loi
    Journal of the Neurological Sciences.2022; 442: 120437.     CrossRef
  • Huntington’s disease in Turkey: genetic counseling, clinical features, and outcome
    Yesim Sucullu Karadag, Busranur Erozan Cavdarli, Rabia Nazik Yuksel
    Neurological Research.2021; 43(5): 381.     CrossRef
  • Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain
    Esther Vicente, Ainara Ruiz de Sabando, Fermín García, Itziar Gastón, Eva Ardanaz, María A. Ramos-Arroyo
    Orphanet Journal of Rare Diseases.2021;[Epub]     CrossRef
  • Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study
    C.A. Demetriou, A. Heraclides, C. Salafori, G.A. Tanteles, K. Christodoulou, Y. Christou, E. Zamba-Papanicolaou
    Clinical Genetics.2018; 93(3): 656.     CrossRef
  • Population-specific genetic modification of Huntington's disease in Venezuela
    Michael J. Chao, Kyung-Hee Kim, Jun Wan Shin, Diane Lucente, Vanessa C. Wheeler, Hong Li, Jared C. Roach, Leroy Hood, Nancy S. Wexler, Laura B. Jardim, Peter Holmans, Lesley Jones, Michael Orth, Seung Kwak, Marcy E. MacDonald, James F. Gusella, Jong-Min L
    PLOS Genetics.2018; 14(5): e1007274.     CrossRef
Case Report
Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease
Dong-Seok Oh, Eun-Seon Park, Seong-Min Choi, Byeong-Chae Kim, Myeong-Kyu Kim, Ki-Hyun Cho
J Mov Disord. 2011;4(2):75-77.
DOI: https://doi.org/10.14802/jmd.11016
  • 60,851 View
  • 61 Download
  • 4 Citations
AbstractAbstract PDF

Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years) HD is clinically different from other adult or juvenile onset HD and characterized by mild motor problem as the initial symptoms, shorter disease duration, frequent lack of family history, and relatively low CAG repeats expansion. We report a case of an 80-year-old female with oromandibular dyskinesia as an initial manifestation of HD and 40 CAG repeats.

Citations

Citations to this article as recorded by  
  • Harmine prevents 3-nitropropionic acid-induced neurotoxicity in rats via enhancing NRF2-mediated signaling: Involvement of p21 and AMPK
    Mohamed Z. Habib, Mariane G. Tadros, Hadwa A. Abd-Alkhalek, Magda I. Mohamad, Dalia M. Eid, Fatma E. Hassan, Hend Elhelaly, Yasser el Faramawy, Sawsan Aboul-Fotouh
    European Journal of Pharmacology.2022; 927: 175046.     CrossRef
  • Orofacial Dyskinesia and Intractable Hiccups in a Patient with Varicella-Zoster Virus Encephalomyelitis
    Akito Funatsu, Yohei Yamamoto, Midori Araki, Fumitoshi Aga, Hideki Mine
    Internal Medicine.2022;[Epub]     CrossRef
  • Management of Traumatic Ulcerations of Lips in a Case of Huntington’s Disease: A Novel Application of Essix Retainer
    Mohamed Iqbal J
    Journal of Indian Orthodontic Society.2021; 55(4): 415.     CrossRef
  • The oral manifestations of Huntington's disease: A systematic review of prevalence
    Luciana Munhoz, Ashjan Qasim Jabbar, William José e Silva Filho, Aline Yukari Nagai, Emiko Saito Arita
    Oral Diseases.2021;[Epub]     CrossRef

JMD : Journal of Movement Disorders