Objective: To investigate the efficacy of deep brain stimulation (DBS) and thalamotomy on symptoms improvement in a case of PRRT2-associated childhood-onset generalized dystonia. This would be the first report of PRRT2-associated dystonia treated with DBS combined with thalamotomy.

Background: Proline-rich transmembrane protein 2 (PRRT2)was recently reported to be a genetic cause for paroxysmal kinesigenic dyskinesia (PKD) and benign familial infantile epilepsy (BFIE),etc.However, PRRT2 mutations are rarely reported in non-paroxysmal generalized dystonia. Generally, pallidal DBS has been well-accepted as the first choice for the treatment of generalized dystonia, especially DYT1 positive patients. STN-DBS or thalamotomy is also used to treat dystonia.

Methods: The patient underwent simultaneous bilateral implantation of quadripolar DBS leads into the STN and left thalamotomy (ventro-oralis nucleus and ventrointermediate nucleus) under general anesthesia. Correct location of the electrodes was confirmed by postoperative brain magnetic resonance imaging (Figure 1). The stimulation parameters in monopolar mode were as follows : case+3-; frequency, 130 Hz; pulse width, 70 μs; amplitude, 2.4 V on the right side, and case+6-; frequency, 130 Hz; pulse width, 60 μs; amplitude, 1.5 V on the left side.

Results: The Burke-Fahn-Martin Dystonia Rating Scale (BFMDRS) total movement scores were 114/120 in the preoperative period, 44/120 at 3 months after the surgery,38/120 at 6 months after the surgery. The BFMDRS total disability scores were 30/30 in the preoperative period, 25/30 at 3 months after the surgery, 20/30 at 6 months after the surgery. The total improvements in BFMDRS scores at 3 months and 6 months respectively were 52.1% and 59.7% (Table 1). No significant complications were encountered.

Conclusions: Our results have indicated that DBS combined with thalamotomy may be an effective therapeutic option for generalized dystonia with mutations in PRRT2. Whether other targets may be more effective is not known.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/bilateral-subthalamic-deep-brain-stimulation-combined-with-thalamotomy-for-prrt2-associated-generalized-dystonia-a-case-report/