Journal of Movement Disorders

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

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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

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The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
Harini Sarva, Federico Rodriguez-Porcel, Francisco Rivera, Claudio Daniel Gonzalez, Samantha Barkan, Susmit Tripathi, Emilia Gatto, Pedro Garcia Ruiz
Journal of the Neurological Sciences.2024; 459: 122970. CrossRef
GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature
Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
Frontiers in Neurology.2023;[Epub] CrossRef
KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
Journal of Movement Disorders.2023; 16(3): 285. CrossRef
Transcriptional co-activators: emerging roles in signaling pathways and potential therapeutic targets for diseases
Priyanka Dey Talukdar, Urmi Chatterji
Signal Transduction and Targeted Therapy.2023;[Epub] CrossRef
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

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143 Download
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Abstract PDF Supplementary 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

The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
Harini Sarva, Federico Rodriguez-Porcel, Francisco Rivera, Claudio Daniel Gonzalez, Samantha Barkan, Susmit Tripathi, Emilia Gatto, Pedro Garcia Ruiz
Journal of the Neurological Sciences.2024; 459: 122970. CrossRef
Pediatric Onset of Generalized Dystonia, Cognitive Impairment, and Dysmorphic Features in a Patient Carrying Compound Heterozygous GNAL Mutations
Luca Magistrelli, Elena Contaldi, Beatrice Piola, Fjorilda Caushi, Miryam Carecchio, Sandra D'Alfonso, Lucia Corrado
Movement Disorders Clinical Practice.2024; 11(8): 1047. CrossRef
BDNF-Regulated Modulation of Striatal Circuits and Implications for Parkinson’s Disease and Dystonia
Daniel Wolf, Maurilyn Ayon-Olivas, Michael Sendtner
Biomedicines.2024; 12(8): 1761. CrossRef
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation
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Parkinsonism & Related Disorders.2023; 115: 105833. CrossRef
Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
Valentino Rački, Mario Hero, Eliša Papić, Gloria Rožmarić, Nada Starčević Čizmarević, Darko Chudy, Borut Peterlin, Vladimira Vuletić
Frontiers in Neuroscience.2023;[Epub] CrossRef
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. van der 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
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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

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Abstract 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.

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