Journal of Movement Disorders

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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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
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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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GPi‐DBS for KMT2B‐Associated Dystonia: Systematic Review and Meta‐Analysis
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Dystonic Tremor in Adult-onset DYT-KMT2B
Rui Shimazaki, Jun Ikezawa, Ryoichi Okiyama, Kenko Azuma, Hiroyuki Akagawa, Kazushi Takahashi
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Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
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Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype–phenotype correlations of all published cases
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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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139 Download
11 Web of Science
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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
A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation
Luigi Michele Romito, Fabio Paio, Nico Golfrè Andreasi, Celeste Panteghini, Sara Rinaldo, Ahmet Kaymak, Alberto Mazzoni, Fabiana Colucci, Vincenzo Levi, Giuseppe Messina, Barbara Garavaglia, Roberto Eleopra
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Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
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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
David Crosiers, Bettina Blaumeiser, Gert Van Goethem
Movement Disorders Clinical Practice.2019; 6(8): 731. CrossRef

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