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

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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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Data availability statement

The data that support the fndings of this study are available from the corresponding author, [JI], upon reasonable request. The data are not publicly available due to [restrictions e.g. their containing information that could compromise the privacy of research participants].

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Acknowledgements

The authors would like to thank Dr. Makoto Taniguchi. As the head of the Department of Neurosurgery at Tokyo Metropolitan Neurological Hospital, he treated the patients. Unfortunately, he passed away in 2020. We are also grateful to the staff of the Neurology and Neurosurgery Departments of the Tokyo Metropolitan Neurological Hospital, who helped us with our practice. We would also like to express our deepest gratitude to Dr. Erika Abe of the National Hospital Organization Akita Hospital and Dr. Hiroyuki Akagawa of the Tokyo Women’s Medical University for conducting the SGCE gene test.

Funding

No specific funding was received for this work.

Author information

Authors and Affiliations

  1. Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo, Japan

    Jun Ikezawa, Fusako Yokochi, Ryoichi Okiyama, Tsutomu Kamiyama, Akihiro Yugeta, Maya Tojima & Kazushi Takahashi

  2. Department of Neurosurgery, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan

    Ayako Isoo, Takashi Agari, Takashi Kawasaki & Katsushige Watanabe

  3. Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan

    Satoko Kumada

  4. Department of Neurology, Prime Clinic, Tokyo, Japan

    Ryoichi Okiyama

  5. Department of Neurosurgery, International University of Health and Welfare Narita Hospital, Chiba, Japan

    Takashi Agari

  6. Department of Neurology, Symphony Clinic in Utsunomiya, Tochigi, Japan

    Tsutomu Kamiyama

  7. Department of Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan

    Akihiro Yugeta

  8. Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan

    Maya Tojima

  9. Department of Neurosurgery, Yokohama City University Medical Center, Kanagawa, Japan

    Takashi Kawasaki

  10. Department of Neurosurgery, Tokyo Metropolitan Matsuzawa Hospital, Tokyo, Japan

    Katsushige Watanabe

Authors
  1. Jun Ikezawa
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  2. Fusako Yokochi
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  6. Tsutomu Kamiyama
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  8. Maya Tojima
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  9. Takashi Kawasaki
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  10. Katsushige Watanabe
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  11. Satoko Kumada
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  12. Kazushi Takahashi
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Contributions

Conception: JI and FY. Execution: JI, FY, RO, AI, TA, Tsutomu K, MT, AY, Takashi K, KW, and SK. Writing of the first draft: JI. Organization, review, and critique: JI, RO, AI, TA, MT, Tsutomu K, AY, Takashi K, KW, SK and KT.

Corresponding author

Correspondence to Jun Ikezawa.

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Conflicts of interest

The authors declare no conflicts of interest associated with this manuscript. Unrelated to this work, JI and FY received grants from InSightec, Ltd., for a trial on focused ultrasound for Parkinson’s disease.

Ethical approval

Studies involving human participants were reviewed and approved by the Ethics Committee of Tokyo Metropolitan Neurological Hospital. We also confirm that patients provided written informed consent for the publication of their videos.

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Informed consent was obtained using the opt-out method.

Consent to publish

Written informed consent to release the video was obtained from the patients.

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Ikezawa, J., Yokochi, F., Okiyama, R. et al. Pallidal deep brain stimulation for patients with myoclonus-dystonia without SGCE mutations. J Neurol (2024). https://doi.org/10.1007/s00415-024-12334-z

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  • DOI: https://doi.org/10.1007/s00415-024-12334-z

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