Journal of Movement Disorders

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A Practical Guide for Clinical Approach to Patients With Huntington’s Disease in Korea: Chaewon Shin, Ryul Kim, Dallah Yoo, Eungseok Oh, Jangsup Moon, Minkyeong Kim, Jee-Young Lee, Jong-Min Kim, Seong-Beom Koh, Manho Kim, Beomseok Jeon; J Mov Disord. 2024;17(2):138-149. Published online March 12, 2024; DOI: https://doi.org/10.14802/jmd.24040

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Letters to the editor

A Case of Task-Specific Tremor of the Hand While Driving: Minkyeong Kim, Eunji Kim, Seok Min Moon, Juhyeon Kim, Heeyoung Kang; J Mov Disord. 2024;17(1):112-114. Published online October 12, 2023; DOI: https://doi.org/10.14802/jmd.23175

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Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Syndrome in a Korean Family: Minkyeong Kim, Seung Hwan Oh, Jae Wook Cho, Jae-Hyeok Lee; J Mov Disord. 2020;13(3):244-246. Published online September 9, 2020; DOI: https://doi.org/10.14802/jmd.20064

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Citations to this article as recorded by

A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias
Mehri Salari, Masoud Etemadifar, Ronak Rashedi, Sayna Mardani
The Cerebellum.2023; 23(2): 702. CrossRef

Case Report

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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Abstract PDF Supplementary 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

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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
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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
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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
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Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases
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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

Brief communication

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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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

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The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis
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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
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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
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Aloysius Domingo, Rachita Yadav, Laurie J. Ozelius
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Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome
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Successful Pallidal Stimulation in a Patient with KMT2B-Related Dystonia
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Journal of Movement Disorders.2020; 13(2): 154. CrossRef
Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation
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