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Original Article
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
  • 21,351 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
Letter to the editor
Dural Arteriovenous Fistula-Associated Reversible Parkinsonism with Presynaptic Dopaminergic Loss
Hang Rai Kim, Jee-Young Lee, Yu Kyeong Kim, Hyeyoung Park, Han-Joon Kim, Young-Je Son, Beom Seok Jeon
J Mov Disord. 2015;8(3):141-143.   Published online September 10, 2015
DOI: https://doi.org/10.14802/jmd.15021
  • 13,591 View
  • 67 Download
  • 5 Web of Science
  • 5 Crossref
PDF

Citations

Citations to this article as recorded by  
  • The Multifocal Dural Arteriovenous Fistula Presumed to Present as a Progressive Cognitive Impairment
    Seunghee Na, Seung-Keun Lee, Eek-Sung Lee
    Dementia and Neurocognitive Disorders.2024; 23(1): 67.     CrossRef
  • The Sudden Onset of Pure Parkinsonism Caused by Intracranial Dural Arteriovenous Fistulas
    Hitoshi Kawasaki, Risa Okuda, Ryu Yokoyama, Toshimasa Yamamoto
    Internal Medicine.2022; 61(7): 1059.     CrossRef
  • Reversible Parkinsonism and Rapidly Progressive Dementia Due to Dural Arteriovenous Fistula: Case Series and Literature Review
    Joshua Lai, Manraj K.S. Heran, A. Jon Stoessl, Peter A. Gooderham
    Movement Disorders Clinical Practice.2017; 4(4): 607.     CrossRef
  • Dementia and Parkinsonism-a Rare Presentation of Intracranial Dural Arteriovenous Fistulae
    Manoj Gopinath, Chinmay Nagesh, K Santhosh, ER Jayadevan
    Neurointervention.2017; 12(2): 125.     CrossRef
  • Straight sinus dural arteriovenous fistula presenting with reversible parkinsonism
    Jiali Pu, Xiaoli Si, Rong Ye, Baorong Zhang
    Medicine.2017; 96(49): e9005.     CrossRef
Review Article
Maladaptive Reward-Learning and Impulse Control Disorders in Patients with Parkinson’s Disease: A Clinical Overview and Pathophysiology Update
Jee-Young Lee, Beom Seok Jeon
J Mov Disord. 2014;7(2):67-76.   Published online October 30, 2014
DOI: https://doi.org/10.14802/jmd.14010
  • 38,049 View
  • 124 Download
  • 9 Web of Science
  • 9 Crossref
AbstractAbstract PDF
Impulse control disorders (ICD) in Parkinson’s disease (PD) are a disabling non-motor symptom with frequencies of 13–35% among patients receiving dopamine replacement therapy. ICD in PD is strongly associated with dopaminergic drug use, especially non-ergot dopamine agonists (DA). However, individual susceptibility and disease-related neural changes are also important contributors to the development of ICD. Discrepancies between nigrostriatal and mesolimbic dopaminergic degeneration and non-physiological administration of dopaminergic drugs may induce abnormal ’hyperstimulation’ of the mesolimbic system, which alters reward-learning behaviors in PD patients. In addition, DA can make patients more impulsive during decision-making and seek risk-taking behaviors. DA intake is also related to the biased representation of rewards. Ultimately, loss of negative feedback control due to dysfunctional frontostriatal connections is necessary for the establishment of ICD in PD. The subsequent behavioral and neural changes are affected by PD treatment and disease progression; thus, proper treatment guidelines for physicians are needed to prevent the development of ICD. Future studies aimed at producing novel therapeutics to control the risk factors for ICD or treat ICD behaviors in PD are warranted. This review summarizes recent advances from epidemiological and pathophysiological studies on ICD in PD. Management principles and limitations of current therapeutics are briefly discussed.

Citations

Citations to this article as recorded by  
  • Quantitative and qualitative sex difference in habenula-induced inhibition of midbrain dopamine neurons in the rat
    Dana Bell, Vaughn J. Waldron, P. Leon Brown
    Frontiers in Behavioral Neuroscience.2023;[Epub]     CrossRef
  • No Higher Risk-Seeking Tendencies or Altered Self-Estimation in a Social Decision-Making Task in Patients with Parkinson’s Disease
    Alexandra C. Zapf, Ann-Kristin Folkerts, Larissa Kahler, Alfons Schnitzler, Paul Reker, Michael T. Barbe, Esther Florin, Elke Kalbe
    Journal of Parkinson's Disease.2022; 12(3): 1045.     CrossRef
  • Reckless Generosity, Parkinson's Disease and Dopamine: A Case Series and Literature Review
    Deborah Amstutz, Joan Philipp Michelis, Ines Debove, Marie Elise Maradan‐Gachet, Martin Lenard Lachenmayer, Julia Muellner, Kyrill Schwegler, Paul Krack
    Movement Disorders Clinical Practice.2021; 8(3): 469.     CrossRef
  • Behavioural and trait changes in parkinsonian patients with impulse control disorder after switching from dopamine agonist to levodopa therapy: results of REIN-PD trial
    Jee-Young Lee, Beomseok Jeon, Seong-Beom Koh, Won Tae Yoon, Ho-Won Lee, Oh Dae Kwon, Jae Woo Kim, Jong-Min Kim, Hyeo-Il Ma, Hee-Tae Kim, Jong Sam Baik, Jinwhan Cho
    Journal of Neurology, Neurosurgery & Psychiatry.2019; 90(1): 30.     CrossRef
  • Impulse control disorders in Parkinson disease: A cross-sectional study in Morocco
    H. El Otmani, F.Z. Mouni, Z. Abdulhakeem, Z. Attar, L. Rashad, I. Saali, B. El Moutawakil, M.A. Rafai, I. Slassi, S. Nadifi
    Revue Neurologique.2019; 175(4): 233.     CrossRef
  • Dopamine Agonists and Impulse Control Disorders: A Complex Association
    Marie Grall-Bronnec, Caroline Victorri-Vigneau, Yann Donnio, Juliette Leboucher, Morgane Rousselet, Elsa Thiabaud, Nicolas Zreika, Pascal Derkinderen, Gaëlle Challet-Bouju
    Drug Safety.2018; 41(1): 19.     CrossRef
  • Mesocorticolimbic hemodynamic response in Parkinson's disease patients with compulsive behaviors
    Daniel O. Claassen, Adam J. Stark, Charis A. Spears, Kalen J. Petersen, Nelleke C. van Wouwe, Robert M. Kessler, David H. Zald, Manus J. Donahue
    Movement Disorders.2017; 32(11): 1574.     CrossRef
  • Stress-Induced Executive Dysfunction in GDNF-Deficient Mice, A Mouse Model of Parkinsonism
    Mona Buhusi, Kaitlin Olsen, Benjamin Z. Yang, Catalin V. Buhusi
    Frontiers in Behavioral Neuroscience.2016;[Epub]     CrossRef
  • Patients’ Reluctance to undergo Deep Brain Stimulation for Parkinson’s Disease
    Mi-Ryoung Kim, Ji Young Yun, Beomseok Jeon, Yong Hoon Lim, Kyung Ran Kim, Hui-Jun Yang, Sun Ha Paek
    Parkinsonism & Related Disorders.2015;[Epub]     CrossRef
Case Report
A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction
Seunguk Jung, Jong Won Chung, Ji Young Yun, Han-Joon Kim, Beom Seok Jeon
J Mov Disord. 2009;2(2):91-94.
DOI: https://doi.org/10.14802/jmd.09025
  • 14,342 View
  • 84 Download
  • 4 Crossref
AbstractAbstract PDF

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature

Citations

Citations to this article as recorded by  
  • Gut dysmotility in children with neurological impairment: the nutritional management
    Antonio Corsello, Lorenzo Scatigno, Annalisa Govoni, Gianvincenzo Zuccotti, Frédéric Gottrand, Claudio Romano, Elvira Verduci
    Frontiers in Neurology.2023;[Epub]     CrossRef
  • Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation
    Chiara Benzoni, Laura Farina, Viviana Pensato, Giorgio Marotta, Altin Kuqo, Elena Mauro, Davide Pareyson, Ettore Salsano
    The Neurologist.2019; 24(6): 194.     CrossRef
  • Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia
    Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soong, Zhi-Ying Wu
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  • Adult‐onset cerebello‐brainstem dominant form of X‐linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review
    Kotaro Ogaki, Shunsuke Koga, Naoya Aoki, Wenlang Lin, Kinuko Suzuki, Owen A. Ross, Dennis W. Dickson
    Neuropathology.2016; 36(1): 64.     CrossRef

JMD : Journal of Movement Disorders