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Myung Jun Lee 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
  • 19,386 View
  • 215 Download
  • 14 Citations
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  
  • 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
Neuroleptic Malignant Syndrome in a Patient with Corticobasal Degeneration
Myung Jun Lee, Chul Hyoung Lyoo, Myung Sik Lee
J Mov Disord. 2011;4(2):73-74.
DOI: https://doi.org/10.14802/jmd.11015
  • 9,422 View
  • 50 Download
AbstractAbstract PDF

Parkinson’s disease is a principal underlying disease of neuroleptic malignant syndrome (NMS) occurring in parkinsonian disorders, but NMS may occur in patients with progressive supranuclear palsy and multiple system atrophy. We report first patient with corticobasal degeneration (CBD) who developed NMS after abrupt reduction of antiparkinsonian medication and concurrent infection. It should be kept in mind that the prevention of infectious illness, which is common complication in parkinson-plus syndrome, is important, and dose reduction or withdrawal of anti-parkinsonian medications should be carefully performed even in the patients with CBD who are expected to be unresponsive to levodopa treatment.


JMD : Journal of Movement Disorders