Deep brain stimulation in an adolescent with hypomyelination with atrophy of the basal ganglia and cerebellum due to a TUBB4A mutation: illustrative case

BACKGROUND: Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare genetic disease due to a TUBB4A mutation, with motor features including dystonia. Deep brain stimulation (DBS) can be used to treat dystonia in pediatric populations, although the response is highly variab...

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Detalles Bibliográficos
Autores principales: MacLean, Jennifer A., Nataraj, Jaya, Olaya, Joffre, Liker, Mark A., Sanger, Terence D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Neurological Surgeons 2023
Materias:
Case Lesson
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555642/
https://www.ncbi.nlm.nih.gov/pubmed/37458337
http://dx.doi.org/10.3171/CASE23158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555642/
https://www.ncbi.nlm.nih.gov/pubmed/37458337
http://dx.doi.org/10.3171/CASE23158

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