J Mov Disord.  2019 May;12(2):120-124. 10.14802/jmd.19006.

The Effect of Globus Pallidus Interna Deep Brain Stimulation on a Dystonia Patient with the GNAL Mutation Compared to Patients with DYT1 and DYT6

• Ahn JH
• Kim AR
• Kim NK
• Park WY
• Kim JS
• Kim M
• Park J
• Lee JI
• Cho JW
• Cho KR
• Youn J

• KMID: 2449684
• DOI: http://doi.org/10.14802/jmd.19006

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.

Keyword

Deep brain stimulation; GNAL; Dystonia; DYT25

MeSH Terms

Botulinum Toxins
Deep Brain Stimulation*
Dystonia*
Follow-Up Studies
Globus Pallidus*
Humans
Botulinum Toxins