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Radiofrequency ablation for DYT‐28 dystonia: short term follow‐up of three adult cases

Mutations in the lysine methyltransferase 2B (KMT2B) gene have recently been reported to be associated with childhood‐onset generalized dystonia. There have been no studies investigating ablative treatments for the management of this disorder. Three patients underwent either a staged unilateral pall...

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Detalles Bibliográficos
Autores principales: Horisawa, Shiro, Azuma, Kenkou, Akagawa, Hiroyuki, Nonaka, Taku, Kawamata, Takakazu, Taira, Takaomi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545596/
https://www.ncbi.nlm.nih.gov/pubmed/32886413
http://dx.doi.org/10.1002/acn3.51170
Descripción
Sumario:Mutations in the lysine methyltransferase 2B (KMT2B) gene have recently been reported to be associated with childhood‐onset generalized dystonia. There have been no studies investigating ablative treatments for the management of this disorder. Three patients underwent either a staged unilateral pallidotomy and contralateral pallidothalamic tractotomy (19‐year‐old man, 2‐year follow‐up), a unilateral pallidothalamic tractotomy (34‐year‐old man, 6‐month follow‐up) or a simultaneous unilateral pallidothalamic tractotomy and ventro‐oral thalamotomy (29‐year‐old man, 6‐month follow‐up). The average total patient score on the Burke‐Fahn‐Marsden Dystonia Rating Scale‐Movement Scale improved from 39.5 to 13.2 (66.6%) after the procedures. No significant complications were identified. Ablative treatments appear to be a promising alternative surgical option for generalized dystonia with KMT2B mutation.