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Jung-Il Lee 3 Articles
Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn
J Mov Disord. 2020;13(2):154-158.   Published online April 6, 2020
DOI: https://doi.org/10.14802/jmd.19087
  • 5,439 View
  • 159 Download
  • 9 Citations
AbstractAbstract PDFSupplementary Material
Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.

Citations

Citations to this article as recorded by  
  • GPi‐DBS for KMT2B ‐Associated Dystonia: Systematic Review and Meta‐Analysis
    Roopa Rajan, Kanwaljeet Garg, Arti Saini, Divya M. Radhakrishnan, Miryam Carecchio, Binukumar BK, Manmohan Singh, Achal K. Srivastava
    Movement Disorders Clinical Practice.2022; 9(1): 31.     CrossRef
  • Dystonic Tremor in Adult-onset DYT-KMT2B
    Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi
    Internal Medicine.2022; 61(15): 2357.     CrossRef
  • Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
    V. A. Bulanova, M. A. Bykanova, N. А. Kuleva
    Russian Journal of Child Neurology.2022; 17(3): 79.     CrossRef
  • Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
    Chrysoula Marogianni, Despoina Georgouli, Katerina Dadouli, Panagiotis Ntellas, Dimitrios Rikos, Georgios M. Hadjigeorgiou, Cleanthi Spanaki, Georgia Xiromerisiou
    Molecular Biology Reports.2021; 48(1): 371.     CrossRef
  • Arching deep brain stimulation in dystonia types
    Han-Joon Kim, Beomseok Jeon
    Journal of Neural Transmission.2021; 128(4): 539.     CrossRef
  • Deep Brain Stimulation for Pediatric Dystonia
    Travis Larsh, Steve W. Wu, Sudhakar Vadivelu, Gerald A. Grant, Jennifer A. O'Malley
    Seminars in Pediatric Neurology.2021; 38: 100896.     CrossRef
  • Deep Brain Stimulation in KMT2B-Related Dystonia: Case Report and Review of the Literature With Special Emphasis on Dysarthria and Speech
    Maria Abel, Robert Pfister, Iman Hussein, Fahd Alsalloum, Christina Onyinzo, Simon Kappl, Michael Zech, Walter Demmel, Martin Staudt, Manfred Kudernatsch, Steffen Berweck
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases
    Shiro Horisawa, Kenkou Azuma, Hiroyuki Akagawa, Taku Nonaka, Takakazu Kawamata, Takaomi Taira
    Annals of Clinical and Translational Neurology.2020; 7(10): 2047.     CrossRef
  • KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
    Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Lucia Abela, Sony Malhotra, Wui K Chong, Dora Steel, Alba Sanchis-Juan, Adeline Ngoh, Natalie Trump, Esther Meyer, Xavier Vasques, Julia Rankin, Meredith W Allain, Carolyn D Applegate,
    Brain.2020; 143(11): 3242.     CrossRef
The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6
Jong Hyeon Ahn, Ah Reum Kim, Nayoung K. D. Kim, Woong-Yang Park, Ji Sun Kim, Minkyeong Kim, Jongkyu Park, Jung-Il Lee, Jin Whan Cho, Kyung Rae Cho, Jinyoung Youn
J Mov Disord. 2019;12(2):120-124.   Published online May 30, 2019
DOI: https://doi.org/10.14802/jmd.19006
  • 4,705 View
  • 130 Download
  • 9 Citations
AbstractAbstract PDFSupplementary Material
Objective
The aim of this study was to investigate the efficacy of globus pallidus interna deep brain stimulation (GPi-DBS) for treating dystonia due to the GNAL mutation.
Methods
We provide the first report of a dystonia patient with a genetically confirmed GNAL mutation in the Korean population and reviewed the literature on patients with the GNAL mutation who underwent GPi-DBS. We compared the effectiveness of DBS in patients with the GNAL mutation compared to that in patients with DYT1 and DYT6 in a previous study.
Results
Patients with the GNAL mutation and those with DYT1 had higher early responder rates (GNAL, 5/5, 100%; DYT1, 7/7, 100%) than did patients with DYT6 (p = 0.047). The responder rates at late follow-up did not differ statistically among the three groups (p = 0.278). The decrease in the dystonia motor scale score in the GNAL group was 46.9% at early follow-up and 63.4% at late follow-up.
Conclusion
GPi-DBS would be an effective treatment option for dystonia patients with the GNAL mutation who are resistant to medication or botulinum toxin treatment.

Citations

Citations to this article as recorded by  
  • Isolated dystonia: clinical and genetic updates
    Aloysius Domingo, Rachita Yadav, Laurie J. Ozelius
    Journal of Neural Transmission.2021; 128(4): 405.     CrossRef
  • Abnormal cerebellar function and tremor in a mouse model for non‐manifesting partially penetrant dystonia type 6
    Meike E. Heijden, Dominic J. Kizek, Ross Perez, Elena K. Ruff, Michelle E. Ehrlich, Roy V. Sillitoe
    The Journal of Physiology.2021; 599(7): 2037.     CrossRef
  • Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome
    Stephen Tisch, Kishore Raj Kumar
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • Arching deep brain stimulation in dystonia types
    Han-Joon Kim, Beomseok Jeon
    Journal of Neural Transmission.2021; 128(4): 539.     CrossRef
  • The Efficacy and Predictors of Using GPi-DBS to Treat Early-Onset Dystonia: An Individual Patient Analysis
    Wenxiu Chen, Houyou Fan, Guohui Lu, Fushun Wang
    Neural Plasticity.2021; 2021: 1.     CrossRef
  • Deep brain stimulation in dystonia: State of art and future directions
    A. Macerollo, V. Sajin, M. Bonello, D. Barghava, S. H Alusi, P. R Eldridge, J. Osman-Farah
    Journal of Neuroscience Methods.2020; 340: 108750.     CrossRef
  • Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
    Jun Kyu Mun, Ah Reum Kim, Jong Hyeon Ahn, Minkyeong Kim, Jin Whan Cho, Jung-Il Lee, Kyung Rae Cho, Jinyoung Youn
    Journal of Movement Disorders.2020; 13(2): 154.     CrossRef
  • Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation
    Minkyeong Kim, Ah Reum Kim, Jongkyu Park, Ji Sun Kim, Jong Hyeon Ahn, Woong-Yang Park, Nayoung K.D. Kim, Chung Lee, Nam-Soon Kim, Jin Whan Cho, Jinyoung Youn
    Clinical Neurology and Neurosurgery.2020; 199: 106267.     CrossRef
  • Reply to: The Spectrum of Movement Disorders in 18p Deletion Syndrome
    David Crosiers, Bettina Blaumeiser, Gert Van Goethem
    Movement Disorders Clinical Practice.2019; 6(8): 731.     CrossRef
The Current Status of Deep Brain Stimulation for the Treatment of Parkinson Disease in the Republic of Korea
Jung-Il Lee
J Mov Disord. 2015;8(3):115-121.   Published online September 10, 2015
DOI: https://doi.org/10.14802/jmd.15043
  • 19,946 View
  • 116 Download
  • 6 Citations
AbstractAbstract PDF
Parkinson disease (PD) is a common neurodegenerative disease with an increasing prevalence in Korea. Deep brain stimulation (DBS) is a safe and effective surgical treatment option for this disease. The aim of this review was to provide an update regarding current DBS practices with respect to the treatment of PD in the Republic of Korea. The first DBS in Korea was performed in 2000; approximately 2,000 patients have undergone DBS for a variety of neurological disorders, the majority of whom were patients with PD. Approximately 150 new patients with PD receive DBS annually, and more than 20 centers perform DBS. However, DBS remains underutilized for many reasons, and the clinical case burden at many institutions is below the level presumed adequate for qualified practice. With a rapidly aging population and an evolving socioeconomic environment, the need for surgical intervention for PD is likely to increase significantly in the future. Many issues such as finances, education, and quality assurance must be resolved to cope with this need.

Citations

Citations to this article as recorded by  
  • Practice Trends of Neuromodulation Therapies for Pain and Spasticity in India
    Preeti P. Doshi, Marc Russo, Paresh K. Doshi
    Neuromodulation: Technology at the Neural Interface.2021;[Epub]     CrossRef
  • An International Survey of Deep Brain Stimulation Utilization in Asia and Oceania: The DBS Think Tank East
    Chencheng Zhang, Adolfo Ramirez-Zamora, Fangang Meng, Zhengyu Lin, Yijie Lai, Dianyou Li, Jinwoo Chang, Takashi Morishita, Tooru Inoue, Shinsuke Fujioka, Genko Oyama, Terry Coyne, Valerie Voon, Paresh K. Doshi, Yiwen Wu, Jun Liu, Bhavana Patel, Leonardo A
    Frontiers in Human Neuroscience.2020;[Epub]     CrossRef
  • Canadian Assessment of Deep Brain Stimulation Access: The Canada Study
    C. Michael Honey, Armaan K. Malhotra, Mandeep S. Tamber, Michel Prud’homme, Ivar Mendez, Christopher R. Honey
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.2018; 45(5): 553.     CrossRef
  • Association of Parkinsonism or Parkinson Disease with Polypharmacy in the Year Preceding Diagnosis: A Nested Case–Control Study in South Korea
    Hae-Young Park, Ji-Won Park, Hyun Soon Sohn, Jin-Won Kwon
    Drug Safety.2017; 40(11): 1109.     CrossRef
  • La Enfermedad de Parkinson: Etiología, Tratamientos y Factores Preventivos
    F Hurtado, Melissa Andrea N Cardenas, Fernando Cardenas, Laura Andrea León
    Universitas Psychologica.2017;[Epub]     CrossRef
  • Isolated dystypia after subthalamic nucleus deep brain stimulation in a patient with Parkinson’s disease
    Si-Hoon Lee, Kipyung Jeon, Byung-chul Son, Joong-Seok Kim
    Acta Neurochirurgica.2016; 158(4): 783.     CrossRef

JMD : Journal of Movement Disorders