Objective: To evaluate effect of deep brain stimulation (DBS) in patients with BCL11B-related dystonia.

Background: BLC11B-related disorder is a rare neurodevelopmental disorder, that has been recently associated with complex generalized dystonia (1,2). DBS effect has been described in 1 case of BCL11B-related dystonia without significant benefit (3) and recently in 2 siblings with some benefit 2 months post-surgery (2).

Method: DBS of the Globul pallidus internus (GPi) was implanted in 2 siblings with a positive family history of dystonia in their deceased mother and a 218-bp deletion (c.753_970del, p.Ser256Profs*188) in BCL11B identified by whole genome sequencing (1). Effects of stimulation were evaluated using Burke Fahn Marsden Dystonia Rating Scale motor (BFMDRS-M) subscale and by Clinician Global Impression (CGI) and Patient Global Impression (PGI).

Results: Patient 1 is a 28-year old female who noticed rapid onset of truncal dystonia at age 13 years, with cranial progression to neck and thereafter upper limbs. At DBS implantation (23y), she presented with a severe generalized dystonia most prominent in her neck, trunk and arms (BFMDRS-M 57 pts). Her motor symptoms have clearly improved in all body segments 12 months after DBS (BFMDRS-M score 32.5 pts, improvement 43%, CGI 2pts, PGI2 pts) as well as during last follow-up 60 months after DBS (BFMDRS-M score 26 pts, improvement 54%, CGI 2pts, PGI2 pts). Patient 2 is her 27-year old younger sister who developed leg dystonia at the age of 5 years, which later spread to her arms, trunk, nech and head. At time of DBS implantation (23 y), she presented with severe generalized dystonia, her BFMDRS was 90 pts, she was wheel-chair bound and anarthric. At 1 months post DBS she already noticed improvement of her symptoms especially in her legs and trunk and was able to walk independently (BFMDRS-M 64 pts, improvement 29%, CGI 3pts, PGI 2pts). At last follow-up 48 months after surgery, her dystonia clearly improved, she was able to walk independently and her speech was mostly intelligible (BFMDRS-M 36 pts, improvement 60%, CGI 2pts, PGI 2pts). No serious side effects occured in any of the patients.

Conclusion: GPi DBS seems to be a potentially effective therapy in patients with severe medication-refractory generalized dystonia related to BCL11B-disorder. Further studies in larger patient cohorts are needed to better understand this relationship.

References: 1. Zech M, Dzinovic I, Skorvanek M, et al. Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. Brain. 2025 Feb 12:awaf059. doi: 10.1093/brain/awaf059. Epub ahead of print. PMID: 39937650.
2. Martindale JM, Chapman L, Lane V, et al. Family with BCL11B Related Dystonia and Movement Disorders. Mov Disord Clin Pract. 2025 Feb 10. doi: 10.1002/mdc3.14357. Epub ahead of print. PMID: 39927638.
3. Garone G, Capuano A, Amodio D, et al. BCL11B-related dystonia: further evidence of an emerging cause of childhood-onset generalized dystonia. Mov Disord Clin Pract 2024; 11(7): 897–901.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/effect-of-long-term-deep-brain-stimulation-in-blc11b-related-dystonia/