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04-04-2024 | Dystonia | Short Commentary

Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations

Authors: Jun Ikezawa, Fusako Yokochi, Ryoichi Okiyama, Ayako Isoo, Takashi Agari, Tsutomu Kamiyama, Akihiro Yugeta, Maya Tojima, Takashi Kawasaki, Katsushige Watanabe, Satoko Kumada, Kazushi Takahashi

Published in: Journal of Neurology

Abstract

Background

Pallidal deep brain stimulation (GPi-DBS) is effective for treating myoclonus and dystonia caused by SGCE mutations (DYT-SGCE, DYT11). However, it is unknown whether GPi-DBS is effective for the treatment of myoclonus-dystonia which is not associated with the SGCE gene mutations. In this study, we investigated the efficacy of GPi-DBS in treating myoclonus-dystonia in SGCE mutation-negative cases.

Methods

Three patients with myoclonus-dystonia without SGCE mutations who underwent GPi-DBS were evaluated preoperatively and 6 months postoperatively using the Unified Myoclonus Rating Scale (UMRS) and Fahn–Marsden Dystonia Rating Scale (FMDRS) for myoclonus and dystonia, respectively. In two of the three patients, myoclonus was more evident during action. Myoclonus was predominant at rest in the other patient, and he was unaware of his dystonia symptoms. The results were compared with those of the four DYT-SGCE cases.

Results

The mean UMRS score in patients with myoclonus-dystonia without SGCE mutations improved from 61.7 to 33.7 pre- and postoperatively, respectively, and the mean FMDRS score improved from 7.2 to 4.5. However, the degree of improvement in myoclonus-dystonia in patients without SGCE mutations was inferior to that in patients with DYT-SGCE (the UMRS score improved by 45% and 69%, respectively).

Conclusions

GPi-DBS is effective for treating myoclonus-dystonia in patients with and without SGCE mutations. GPi-DBS should be considered as a treatment option for myoclonus-dystonia without SGCE mutations.

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Title: Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations
Authors: Jun Ikezawa
Fusako Yokochi
Ryoichi Okiyama
Ayako Isoo
Takashi Agari
Tsutomu Kamiyama
Akihiro Yugeta
Maya Tojima
Takashi Kawasaki
Katsushige Watanabe
Satoko Kumada
Kazushi Takahashi
Publication date: 04-04-2024
Publisher: Springer Berlin Heidelberg
Keywords: Dystonia
Deep Brain Stimulation
Published in: Journal of Neurology
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-024-12334-z

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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