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Nayoung K. D. Kim 1 Article
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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  • 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
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    Journal of Neural Transmission.2021; 128(4): 405.     CrossRef
  • Abnormal cerebellar function and tremor in a mouse model for nonā€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
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    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

JMD : Journal of Movement Disorders