Journal of Movement Disorders

Seong Beom Koh

2 Articles

Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans: Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho, Mee Young Park, Yun Joong Kim, Young H. Sohn, Beom Seok Jeon, Myung Sik Lee; J Mov Disord. 2016;9(1):20-27. Published online January 25, 2016; DOI: https://doi.org/10.14802/jmd.15058

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Objective
Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea.
Methods
We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN).
Results
Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN.
Conclusions
We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.

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Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
Frontiers in Neurology.2023;[Epub] CrossRef
The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report
Van Khanh Tran, Chi Dung Vu, Hai Anh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Huy Thinh Tran, Nguyen Huy Hoang
Medicine.2023; 102(43): e34853. CrossRef
Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene
Dahae Yang, Sanghyun Cho, Sung Im Cho, Manjin Kim, Moon-Woo Seong, Sung Sup Park
Orphanet Journal of Rare Diseases.2022;[Epub] CrossRef
Long-Term Outcomes of Deep Brain Stimulation in Pantothenate Kinase-Associated Neurodegeneration-Related Dystonia
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Journal of Movement Disorders.2022; 15(3): 241. CrossRef
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Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
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Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration
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On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
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Edward Botsford, Jayan George, Ellen Buckley
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Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
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Movement Disorders.2017; 32(11): 1620. CrossRef
Missions of <italic>Journal of Movement Disorders</italic>
Yun Joong Kim
Journal of Movement Disorders.2016; 9(1): 1. CrossRef

Nationwide Survey of Patient Knowledge and Attitudes towards Human Experimentation Using Stem Cells or Bee Venom Acupuncture for Parkinson’s Disease: Sun Ju Chung, Seong Beom Koh, Young-Su Ju, Jae Woo Kim; J Mov Disord. 2014;7(2):84-91. Published online October 30, 2014; DOI: https://doi.org/10.14802/jmd.14012

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Abstract PDF Supplementary Material

Objective Stem cell treatment is a well-recognized experimental treatment among patients with Parkinson’s disease (PD), for which there are high expectations of a positive impact. Acupuncture with bee venom is one of the most popular complementary and alternative treatments for PD. Patient knowledge and attitudes towards these experimental treatments are unknown.
Methods Using a 12-item questionnaire, a nationwide survey was conducted of 963 PD patients and 267 caregivers in 44 Korean Movement Disorders Society member hospitals from April 2013 to June 2013. The survey was performed by trained interviewers using conventional methods.
Results Regarding questions on experimental treatments using stem cells or bee venom acupuncture, 5.1–17.7% of PD patients answered questions on safety, efficacy, and evidence-based practice incorrectly; however, more than half responded that they did not know the correct answer. Although safety and efficacy have not been established, 55.5% of PD patients responded that they were willing to receive stem cell treatment. With regard to participating in experimental treatments, there was a strong correlation between stem cell treatment and bee venom acupuncture (p < 0.0001, odds ratio = 5.226, 95% confidence interval 3.919–6.969). Younger age, higher education, and a longer duration of PD were all associated with a correct understanding of experimental treatments.
Conclusions Our data suggest that relatively few PD patients correctly understand the safety and efficacy of experimental treatments and that PD patients are greatly interested in new treatments. We hope that our data will be used to educate or to plan educational programs for PD patients and caregivers.

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Professional ethics in complementary and alternative medicines in management of Parkinson’s disease
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