Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome
IntroductionMitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome is a rare inherited metabolic condition caused by MECR gene mutations. This gene encodes a protein essential for fatty acid synthesis, and defects cause progressively worsening childhood-onset dystoni...
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Frontiers Media S.A.
2024-01-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1307595/full |
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| author | Jaya Nataraj Jaya Nataraj Jennifer A. MacLean Jennifer A. MacLean Jordan Davies Jordan Davies Joshua Kurtz Amanda Salisbury Mark A. Liker Mark A. Liker Terence D. Sanger Terence D. Sanger Terence D. Sanger Terence D. Sanger Joffre Olaya Joffre Olaya |
| author_facet | Jaya Nataraj Jaya Nataraj Jennifer A. MacLean Jennifer A. MacLean Jordan Davies Jordan Davies Joshua Kurtz Amanda Salisbury Mark A. Liker Mark A. Liker Terence D. Sanger Terence D. Sanger Terence D. Sanger Terence D. Sanger Joffre Olaya Joffre Olaya |
| author_sort | Jaya Nataraj |
| collection | DOAJ |
| description | IntroductionMitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome is a rare inherited metabolic condition caused by MECR gene mutations. This gene encodes a protein essential for fatty acid synthesis, and defects cause progressively worsening childhood-onset dystonia, optic atrophy, and basal ganglia abnormalities. Deep brain stimulation (DBS) has shown mixed improvement in other childhood-onset dystonia conditions. To the best of our knowledge, DBS has not been investigated as a treatment for dystonia in patients with MEPAN syndrome.MethodsTwo children with MEPAN were identified as possible DBS candidates due to severe generalized dystonia unresponsive to pharmacotherapy. Temporary depth electrodes were placed in six locations bilaterally and tested during a 6-day hospitalization to determine the best locations for permanent electrode placement. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Barry-Albright Dystonia Scale (BADS) were used for preoperative and postoperative testing to quantitatively assess dystonia severity changes. Patient 1 had permanent electrodes placed at the globus pallidus internus (GPi) and pedunculopontine nucleus (PPN). Patient 2 had permanent electrodes placed at the GPi and ventralis intermedius nucleus of the thalamus (VIM).ResultsBoth patients successfully underwent DBS placement with no perioperative complications and significant improvement in their BFMDRS score. Patient 2 also demonstrated improvement in the BADS.DiscussionWe demonstrated a novel application of DBS in MEPAN syndrome patients with childhood-onset dystonia. These patients showed clinically significant improvements in dystonia following DBS, indicating that DBS can be considered for dystonia in patients with rare metabolic disorders that currently have no other proven treatment options. |
| first_indexed | 2024-03-08T11:55:52Z |
| format | Article |
| id | doaj.art-e05f0f45e2144e75be61ecadb6e7c08a |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-03-08T11:55:52Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-e05f0f45e2144e75be61ecadb6e7c08a2024-01-24T04:12:53ZengFrontiers Media S.A.Frontiers in Neurology1664-22952024-01-011410.3389/fneur.2023.13075951307595Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndromeJaya Nataraj0Jaya Nataraj1Jennifer A. MacLean2Jennifer A. MacLean3Jordan Davies4Jordan Davies5Joshua Kurtz6Amanda Salisbury7Mark A. Liker8Mark A. Liker9Terence D. Sanger10Terence D. Sanger11Terence D. Sanger12Terence D. Sanger13Joffre Olaya14Joffre Olaya15Samueli School of Engineering, University of California Irvine, Irvine, CA, United StatesResearch Institute, Children’s Hospital of Orange County, Orange, CA, United StatesResearch Institute, Children’s Hospital of Orange County, Orange, CA, United StatesDepartment of Neurology, Children’s Hospital of Orange County, Orange, CA, United StatesDivision of Neurosurgery, Children’s Hospital of Orange County, Orange, CA, United StatesDepartment of Neurological Surgery, School of Medicine, University of California Irvine, Irvine, CA, United StatesSchool of Medicine, University of California Irvine, Irvine, CA, United StatesResearch Institute, Children’s Hospital of Orange County, Orange, CA, United StatesDivision of Neurosurgery, Children’s Hospital of Orange County, Orange, CA, United StatesDepartment of Neurological Surgery, Keck School of Medicine, University of Southern California, Los Angeles, CA, United StatesSamueli School of Engineering, University of California Irvine, Irvine, CA, United StatesResearch Institute, Children’s Hospital of Orange County, Orange, CA, United StatesDepartment of Neurology, Children’s Hospital of Orange County, Orange, CA, United StatesDepartment of Pediatrics, School of Medicine, University of California Irvine, Irvine, CA, United StatesDivision of Neurosurgery, Children’s Hospital of Orange County, Orange, CA, United StatesDepartment of Neurological Surgery, School of Medicine, University of California Irvine, Irvine, CA, United StatesIntroductionMitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration (MEPAN) syndrome is a rare inherited metabolic condition caused by MECR gene mutations. This gene encodes a protein essential for fatty acid synthesis, and defects cause progressively worsening childhood-onset dystonia, optic atrophy, and basal ganglia abnormalities. Deep brain stimulation (DBS) has shown mixed improvement in other childhood-onset dystonia conditions. To the best of our knowledge, DBS has not been investigated as a treatment for dystonia in patients with MEPAN syndrome.MethodsTwo children with MEPAN were identified as possible DBS candidates due to severe generalized dystonia unresponsive to pharmacotherapy. Temporary depth electrodes were placed in six locations bilaterally and tested during a 6-day hospitalization to determine the best locations for permanent electrode placement. The Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Barry-Albright Dystonia Scale (BADS) were used for preoperative and postoperative testing to quantitatively assess dystonia severity changes. Patient 1 had permanent electrodes placed at the globus pallidus internus (GPi) and pedunculopontine nucleus (PPN). Patient 2 had permanent electrodes placed at the GPi and ventralis intermedius nucleus of the thalamus (VIM).ResultsBoth patients successfully underwent DBS placement with no perioperative complications and significant improvement in their BFMDRS score. Patient 2 also demonstrated improvement in the BADS.DiscussionWe demonstrated a novel application of DBS in MEPAN syndrome patients with childhood-onset dystonia. These patients showed clinically significant improvements in dystonia following DBS, indicating that DBS can be considered for dystonia in patients with rare metabolic disorders that currently have no other proven treatment options.https://www.frontiersin.org/articles/10.3389/fneur.2023.1307595/fullMEPANdystoniadeep brain stimulationMECRpediatrics |
| spellingShingle | Jaya Nataraj Jaya Nataraj Jennifer A. MacLean Jennifer A. MacLean Jordan Davies Jordan Davies Joshua Kurtz Amanda Salisbury Mark A. Liker Mark A. Liker Terence D. Sanger Terence D. Sanger Terence D. Sanger Terence D. Sanger Joffre Olaya Joffre Olaya Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome Frontiers in Neurology MEPAN dystonia deep brain stimulation MECR pediatrics |
| title | Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome |
| title_full | Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome |
| title_fullStr | Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome |
| title_full_unstemmed | Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome |
| title_short | Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome |
| title_sort | application of deep brain stimulation for the treatment of childhood onset dystonia in patients with mepan syndrome |
| topic | MEPAN dystonia deep brain stimulation MECR pediatrics |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2023.1307595/full |
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