- 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
-
-
4,844
View
-
130
Download
-
9
Citations
-
 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  - 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. 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
|
KMDS
E-submission
