Objective: To determine the efficacy of pallidal stimulation and GPi-DBS in KMT2B-associated dystonia.

Background: Early evidence suggests good response to pallidal stimulation in KMT2B dystonia, though only few patients have been reported worldwide. We conducted a systematic review and meta-analysis of outcomes following GPi-DBS in KMT2B-associated dystonia.

Method: We searched MEDLINE and Cochrane databases using MeSH terms “KMT2B and DYT28”.  We included studies that reported objective outcomes following GPi-DBS in patients with KMT2B variants. The BFMDRS-M (Burke-Fahn-Marsden Dystonia Rating Scale- Motor) or total scores pre- and post-surgery were used to quantify outcomes.

Results: Initial searches screened 123 abstracts of which 38 full text articles were identified to be of potential interest. 9 studies met the inclusion/exclusion criteria and were included in the analysis. A total of 41 subjects who underwent GPi-DBS and had pre- and post- BFMDRS-M scores available were included. The mean age at onset was 6.4 ± 5.8 years and 68% were female. The mean age at DBS was 14.7 ± 10.1 years. Follow-up duration ranged from 1 month to 192 months in individual patients. There was a significant difference in pre- and post-operative BFMDRS-M scores (Pre: 61.7 ± 27.5 and Post: 34.2 ± 25.6) with median improvement of 43.5% (range: -103.5% to 97.8%) in dystonia at a median duration of 6 months after surgery.

Conclusion: KMT2B-associated dystonia responds effectively to pallidal stimulation and GPi-DBS maybe considered as a therapeutic option in these patients.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/gpi-dbs-for-kmt2b-associated-dystonia-systematic-review-and-meta-analysis/