PDF(Pubmed)
Abstract：
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 variable and preferential toward specific etiologies.
METHODS: 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\'s response suggests that DBS can have potential benefit in H-ABC.
CONCLUSIONS: TUBB4A 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.
METHODS: 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\'s response suggests that DBS can have potential benefit in H-ABC.
CONCLUSIONS: TUBB4A 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.
摘要：
背景：基底神经节和小脑萎缩（H-ABC）是一种罕见的遗传性疾病，由于TUBB4A突变，运动特征包括肌张力障碍。深部脑刺激（DBS）可用于治疗小儿人群的肌张力障碍，尽管反应是高度可变的，并且优先于特定的病因。
方法：一名患有H-ABC的儿科受试者使用涉及临时深度电极放置的分阶段程序接受DBS，最佳刺激目标的识别，和永久性电极植入。手术后,患者的Burke-Fahn-Marsden肌张力障碍量表和Barry-Albright肌张力障碍量表均有显著改善.患者的反应表明DBS可能对H-ABC有潜在的益处。
结论：TUBB4A突变与多种临床表型相关，DBS缺乏明确的目标，这种情况是在这种情况下第二次报告的DBS实例。建议使用临时深度电极测试的分阶段程序来识别最佳刺激目标。该患者的反应表明，这种分阶段的手术可能会在DBS目标目前未知的其他情况下提供益处。包括与运动障碍相关的罕见遗传或代谢疾病。
方法：一名患有H-ABC的儿科受试者使用涉及临时深度电极放置的分阶段程序接受DBS，最佳刺激目标的识别，和永久性电极植入。手术后,患者的Burke-Fahn-Marsden肌张力障碍量表和Barry-Albright肌张力障碍量表均有显著改善.患者的反应表明DBS可能对H-ABC有潜在的益处。
结论：TUBB4A突变与多种临床表型相关，DBS缺乏明确的目标，这种情况是在这种情况下第二次报告的DBS实例。建议使用临时深度电极测试的分阶段程序来识别最佳刺激目标。该患者的反应表明，这种分阶段的手术可能会在DBS目标目前未知的其他情况下提供益处。包括与运动障碍相关的罕见遗传或代谢疾病。
