Jun Ikezawa, Fusako Yokochi, Ryoichi Okiyama, Ayako Isoo, Takashi Agari, Tsutomu Kamiyama, Akihiro Yugeta, Maya Tojima, Takashi Kawasaki, Katsushige Watanabe, Satoko Kumada, Kazushi Takahashi
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...
April 4, 2024: Journal of Neurology