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KMID : 1197720190120020120
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대한파킨슨병 및 이상운동질환 학회지
2019 Volume.12 No. 2 p.120 ~ p.124
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The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6
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Ahn Jong-Hyeon
Kim Ah-Reum
Kim Na-Young
Park Woong-Yang
Kim Ji-Sun
Kim Min-Kyeong
Park Jong-Kyu
Lee Jung-Il
Cho Jin-Whan
Cho Kyung-Rae
Youn Jin-Young
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Abstract
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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.
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KEYWORD
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Deep brain stimulation, GNAL, Dystonia, DYT25
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