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- Review Article A practical guide for diagnostic investigations and special considerations in patients with Huntington’s disease in Korea
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Jangsup Moon1,2, Eungseok Oh3,4, Minkyeong Kim5, Ryul Kim6, Dallah Yoo7, Chaewon Shin3,8, Jee-Young Lee6
, Jong-Min Kim9, Seong-Beom Koh10, Manho Kim1, Beomseok Jeon11, on behalf of the Korean Huntington’s Disease Society -
DOI: https://doi.org/10.14802/jmd.24232 [Accepted]
Published online: December 26, 2024
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1Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
2Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea
3Department of Neurology, Chungnam National University Hospital, Daejeon, Republic of Korea
4Department of Neurology, Chungnam National University College of Medicine, Daejeon, Republic of Korea
5Department of Neurology, Gyeongsang National University Hospital, Jinju, Korea
6Department of Neurology, SMG-SNU Boramae Medical Center, Seoul National University College of Medicine, Seoul, Republic of Korea
7Department of Neurology, Kyung Hee University Hospital, Kyung Hee University School of Medicine, Seoul, Korea
8Department of Neurology, Chungnam National University Sejong Hospital, Sejong-si, Republic of Korea
9Department of Neurology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea
10Department of Neurology, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Republic of Korea
11Department of Neurology, MRC and Movement Disorder Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
2Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea
3Department of Neurology, Chungnam National University Hospital, Daejeon, Republic of Korea
4Department of Neurology, Chungnam National University College of Medicine, Daejeon, Republic of Korea
5Department of Neurology, Gyeongsang National University Hospital, Jinju, Korea
6Department of Neurology, SMG-SNU Boramae Medical Center, Seoul National University College of Medicine, Seoul, Republic of Korea
7Department of Neurology, Kyung Hee University Hospital, Kyung Hee University School of Medicine, Seoul, Korea
8Department of Neurology, Chungnam National University Sejong Hospital, Sejong-si, Republic of Korea
9Department of Neurology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam-si, Gyeonggi-do, Republic of Korea
10Department of Neurology, Korea University Guro Hospital, Korea University College of Medicine, Seoul, Republic of Korea
11Department of Neurology, MRC and Movement Disorder Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea
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Corresponding author:
Jee-Young Lee, Tel: +82-2-870-2476, Fax: +82-2-831-2826,
Email: wieber04@snu.ac.kr
Received: 15 November 2024 • Revised: 21 December 2024 • Accepted: 24 December 2024
Abstract
The Korean Huntington’s Disease Society (KHDS) has recently published a practical guide for clinical approach to patients with Huntington’s disease (HD) in Korea in April issue of Journal of Movement Disorders this year.1 This article is the second practical guide particularly focused on 1) essential points of genetic counseling for families of HD covering issues of testing minors and prenatal/preimplantation testing; and 2) premanifest HD and useful laboratory investigations for assessing disease severity and progression. The latter part of this article deals with special issues of juvenile and very late-onset HD, and common comorbidities in HD patients. 3) Finally, the management principles of HD patients are briefly explained. The contents were drafted by the guideline task force members of the KHDS. We intended to include published literature containing South Korean data in this paper. We believe this article will be a pocket guide to physicians as well as movement disorders specialists in Korea in planning diagnostic work-up for and management of HD patients and families.
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