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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KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
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Dystonic Tremor in Adult-onset DYT-KMT2B
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Dystonia type 28 with early onset (DYT-KMT2B): a clinical case
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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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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
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
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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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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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Isolated dystonia: clinical and genetic updates
Aloysius Domingo, Rachita Yadav, Laurie J. Ozelius
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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
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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
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Review Article

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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