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Objectives <p>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).</p> Methods <p>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).</p> Results <p>A total of 15 children were identified aged 3–17.5 with a median age of 11.5&#xa0;years at neurosurgery, and one adult undergoing DBS aged 31&#xa0;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, <i>P</i> &gt; 0.05). COPM data were available for 11/13 children and young people (CAYP). Clinically significant improvement was reported in 7/11 at 1&#xa0;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.</p> Conclusion <p>DBS may be considered as a management option for children with GA1 who have appropriately selected goals for intervention.</p>

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Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月1日

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  • Daniel E. Lumsden,
  • Stavros Tsagkaris,
  • Jon Cleary,
  • Michael Champion,
  • Helen Mundy,
  • Abteen Mostofi,
  • Harutomo Hasegawa,
  • Verity M. McClelland,
  • Shakya Bhattacharjee,
  • Monty Silverdale,
  • Hortensia Gimeno,
  • Keyoumars Ashkan,
  • Richard Selway,
  • Margaret Kaminska,
  • Alexander Hammers,
  • Jean-Pierre Lin

摘要

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.