TY - JOUR
T1 - Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1
AU - Lumsden, Daniel E.
AU - Tsagkaris, Stavros
AU - Cleary, Jon
AU - Champion, Michael
AU - Mundy, Helen
AU - Mostofi, Abteen
AU - Hasegawa, Harutomo
AU - McClelland, Verity M.
AU - Bhattacharjee, Shakya
AU - Silverdale, Monty
AU - Gimeno, Hortensia
AU - Ashkan, Keyoumars
AU - Selway, Richard
AU - Kaminska, Margaret
AU - Hammers, Alexander
AU - Lin, Jean Pierre
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/3/1
Y1 - 2025/3/1
N2 - Objectives: 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). Methods: 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). Results: 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. Conclusion: DBS may be considered as a management option for children with GA1 who have appropriately selected goals for intervention.
AB - Objectives: 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). Methods: 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). Results: 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. Conclusion: DBS may be considered as a management option for children with GA1 who have appropriately selected goals for intervention.
KW - Deep Brain Stimulation
KW - Dystonia
KW - FDG-PET
KW - Glutaric Aciduria
UR - http://www.scopus.com/inward/record.url?scp=85219602503&partnerID=8YFLogxK
U2 - 10.1007/s00415-025-12942-3
DO - 10.1007/s00415-025-12942-3
M3 - Article
C2 - 40025312
AN - SCOPUS:85219602503
SN - 0340-5354
VL - 272
JO - Journal of Neurology
JF - Journal of Neurology
IS - 3
M1 - 234
ER -