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Mee Young Park 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
  • 21,372 View
  • 226 Download
  • 20 Web of Science
  • 16 Crossref
AbstractAbstract PDFSupplementary Material
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.

Citations

Citations to this article as recorded by  
  • 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
    Kyung Ah Woo, Han-Joon Kim, Seung-Ho Jeon, Hye Ran Park, Kye Won Park, Seung Hyun Lee, Sun Ju Chung, Jong-Hee Chae, Sun Ha Paek, Beomseok Jeon
    Journal of Movement Disorders.2022; 15(3): 241.     CrossRef
  • Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome
    Luz María González Huerta, Sorina Gómez González, Jaime Toral López
    Psychiatric Genetics.2021; 31(3): 95.     CrossRef
  • Rational Design of Novel Therapies for Pantothenate Kinase–Associated Neurodegeneration
    Nivedita Thakur, Thomas Klopstock, Suzanne Jackowski, Enej Kuscer, Fernando Tricta, Aleksandar Videnovic, Hyder A. Jinnah
    Movement Disorders.2021; 36(9): 2005.     CrossRef
  • Atypical Pantothenate Kinase-Associated Neurodegeneration with variable phenotypes in an Egyptian family
    Ali S. Shalash, Thomas W. Rösler, Ibrahim Y. Abdelrahman, Hatem S. Abulmakarem, Stefanie H. Müller, Franziska Hopfner, Gregor Kuhlenbäumer, Günter U. Höglinger, Mohamed Salama
    Heliyon.2021; : e07469.     CrossRef
  • Treatment Responsiveness of Parkinsonism in Atypical Pantothenate Kinase‐Associated Neurodegeneration
    Jeanne Feuerstein, Caroline Olvera, Michelle Fullard
    Movement Disorders Clinical Practice.2020;[Epub]     CrossRef
  • Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
    Randall D. Marshall, Abigail Collins, Maria L. Escolar, H. A. Jinnah, Thomas Klopstock, Michael C. Kruer, Aleksandar Videnovic, Amy Robichaux-Viehoever, Colleen Burns, Laura L. Swett, Dennis A. Revicki, Randall H. Bender, William R. Lenderking
    Orphanet Journal of Rare Diseases.2019;[Epub]     CrossRef
  • Intrafamilial variability and clinical heterogeneity in a family with PLA2G6-associated neurodegeneration
    Jong Kyu Park, Jinyoung Youn, Jin Whan Cho
    Precision and Future Medicine.2019; 3(3): 135.     CrossRef
  • On the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation
    C. Tello, A. Darling, V. Lupo, B. Pérez‐Dueñas, C. Espinós
    Clinical Genetics.2018; 93(4): 731.     CrossRef
  • Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase–Associated Neurodegeneration
    J.-H. Lee, A. Gregory, P. Hogarth, C. Rogers, S.J. Hayflick
    American Journal of Neuroradiology.2018; 39(3): 583.     CrossRef
  • Parkinson’s Disease and Metal Storage Disorders: A Systematic Review
    Edward Botsford, Jayan George, Ellen Buckley
    Brain Sciences.2018; 8(11): 194.     CrossRef
  • Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature
    S. Mahoui, A. Benhaddadi, W. Ameur El Khedoud, M. Abada Bendib, M. Chaouch
    Revue Neurologique.2017; 173(10): 658.     CrossRef
  • Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study
    Alejandra Darling, Cristina Tello, María Josep Martí, Cristina Garrido, Sergio Aguilera‐Albesa, Miguel Tomás Vila, Itziar Gastón, Marcos Madruga, Luis González Gutiérrez, Julio Ramos Lizana, Montserrat Pujol, Tania Gavilán Iglesias, Kylee Tustin, Jean Pie
    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
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
  • 17,713 View
  • 124 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

JMD : Journal of Movement Disorders