{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:20:39Z","timestamp":1778642439767,"version":"3.51.4"},"reference-count":24,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"2","license":[{"start":{"date-parts":[[2023,7,10]],"date-time":"2023-07-10T00:00:00Z","timestamp":1688947200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,10]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>\n                      Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare genetic disease due to a\n                      <jats:italic>TUBB4A<\/jats:italic>\n                      mutation, with motor features including dystonia. Deep brain stimulation (DBS) can be used to treat dystonia in pediatric populations, although the response is highly variable and preferential toward specific etiologies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>A single pediatric subject with H-ABC received DBS using a staged procedure involving temporary depth electrode placement, identification of optimal stimulation targets, and permanent electrode implantation. After surgery, the patient significantly improved on both the Burke-Fahn-Marsden Dystonia Rating Scale and the Barry-Albright Dystonia Scale. The patient\u2019s response suggests that DBS can have potential benefit in H-ABC.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>\n                      <jats:italic>TUBB4A<\/jats:italic>\n                      mutations are associated with a variety of clinical phenotypes, and there is a lack of clearly identified targets for DBS, with this case being the second reported instance of DBS in this condition. The staged procedure with temporary depth electrode testing is recommended to identify optimal stimulation targets. The response seen in this patient implies that such a staged procedure may provide benefit in other conditions where DBS targets are currently unknown, including rare genetic or metabolic conditions associated with movement disorders.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case23158","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T10:24:42Z","timestamp":1689071082000},"source":"Crossref","is-referenced-by-count":7,"title":["Deep brain stimulation in an adolescent with hypomyelination with atrophy of the basal ganglia and cerebellum due to a TUBB4A mutation: illustrative case"],"prefix":"10.3171","volume":"6","author":[{"given":"Jennifer A.","family":"MacLean","sequence":"first","affiliation":[{"name":"Department of Neurology, Children\u2019s Hospital of Orange County, Orange, California"},{"name":"Research Department, Children\u2019s Hospital of Orange County, Orange, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaya","family":"Nataraj","sequence":"additional","affiliation":[{"name":"Henry Samueli School of Engineering, University of California Irvine, Irvine, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joffre","family":"Olaya","sequence":"additional","affiliation":[{"name":"Divison of Neurosurgery, Children\u2019s Hospital of Orange County, Orange, California;"},{"name":"Departments of Neurological Surgery and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark A.","family":"Liker","sequence":"additional","affiliation":[{"name":"Divison of Neurosurgery, Children\u2019s Hospital of Orange County, Orange, California;"},{"name":"Department of Neurological Surgery, Keck School of Medicine, University of Southern California Los Angeles, Los Angeles, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terence D.","family":"Sanger","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s Hospital of Orange County, Orange, California"},{"name":"Research Department, Children\u2019s Hospital of Orange County, Orange, California"},{"name":"Henry Samueli School of Engineering, University of California Irvine, Irvine, California"},{"name":"Pediatrics, School of Medicine, University of California Irvine, Irvine, California; and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"7","key":"b1","series-title":"J Child Neurol","first-page":"840","article-title":"Pallidal stimulation in children: comparison between cerebral palsy and DYT1 dystonia","volume":"28","author":"Marks W","year":"2013","unstructured":"Marks W, Bailey L, Reed M,  Pallidal stimulation in children: comparison between cerebral palsy and DYT1 dystonia. 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