The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6
- Author:
Jong Hyeon AHN
1
;
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
Author Information
- Publication Type:Brief communication
- Keywords: Deep brain stimulation; GNAL; Dystonia; DYT25
- MeSH: Botulinum Toxins; Deep Brain Stimulation; Dystonia; Follow-Up Studies; Globus Pallidus; Humans
- From:Journal of Movement Disorders 2019;12(2):120-124
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
