Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1
Lumsden, Daniel E Tsagkaris, Stavros Cleary, Jon Champion, Michael Mundy, Helen Mostofi, Abteen Hasegawa, Harutomo McClelland, Verity M Bhattacharjee, Shakya Silverdale, Monty
Lumsden, Daniel E
Tsagkaris, Stavros
Cleary, Jon
Champion, Michael
Mundy, Helen
Mostofi, Abteen
Hasegawa, Harutomo
McClelland, Verity M
Bhattacharjee, Shakya
Silverdale, Monty
Citations
Altmetric:
Affiliation
Evelina London Children's Hospital Guy's and St Thomas NHS Foundation Trust; King's College London; The Dudley Group NHS Foundation Trust
Other Contributors
Publication date
2025-03-02
Subject
Collections
Research Projects
Organizational Units
Journal Issue
Abstract
Glutaric aciduria type 1 (GA1) is a rare autosomal recessive organic acidaemia caused by deficiency of the glutaryl-CoA dehydrogenase enzyme. We describe the outcomes following deep brain stimulation (DBS) for the management of dystonia of children and adults with glutaric aciduria type 1 (GA1). Cases with GA1 were identified from the institutional databases of two tertiary movement disorder services. Data were extracted from clinical records using a standardised proforma, including baseline clinical characteristics, imaging and neurophysiological findings, complications post-surgery, and outcomes as measured by the Burke-Fahn-Marsden Dystonia Rating Scale (BMFDRS) motor scores and the Canadian Occupation Performance Measure (COPM). A total of 15 children were identified aged 3-17.5 with a median age of 11.5 years at neurosurgery, and one adult undergoing DBS aged 31 years. Baseline BMFDRS motor score ranged from 58.5-114, median 105. GMFCS-equivalence level was 5 (i.e. non-ambulant) for 10/16 cases. Surgery was tolerated in all cases without evidence of metabolic decompensation. BFMDRS motor score 1-year post-surgery ranged from 57.5-108.5 (median 97.25) and at last follow-up 57.5-112 (median 104) (no statistically significant change compared to baseline at either time point, P > 0.05). COPM data were available for 11/13 children and young people (CAYP). Clinically significant improvement was reported in 7/11 at 1 year and 8/11 at last follow-up. Four CAYP transitioned to adult services. Death occurred in three cases during follow-up, in no case related to DBS. DBS may be considered as a management option for children with GA1 who have appropriately selected goals for intervention.
Citation
Lumsden DE, Tsagkaris S, Cleary J, Champion M, Mundy H, Mostofi A, Hasegawa H, McClelland VM, Bhattacharjee S, Silverdale M, Gimeno H, Ashkan K, Selway R, Kaminska M, Hammers A, Lin JP. Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1. J Neurol. 2025 Mar 1;272(3):234. doi: 10.1007/s00415-025-12942-3.