Long term follow-up results of deep brain stimulation of the Globus pallidus interna in pediatric patients with DYT1-positive dystonia
Long term follow-up results of deep brain stimulation of the Globus pallidus interna in pediatric patients with DYT1-positive dystonia
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DOI：
10.1016/j.clineuro.2020.106449
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发表时间：
2021-01-01
影响因子：
1.9
通讯作者：
Rohani, Mohammad
中科院分区：
文献类型：
--
作者：
Ghamsari, Mona Ramezani;Ghourchian, Shadi;Rohani, Mohammad
目的：:原发性全身性肌张力障碍（PGD）是由杂合性扭转蛋白1A（TOR 1A）基因突变（DYT 1）引起的儿童期发作的肌张力障碍，症状迅速恶化，导致青春期严重残疾。苍白球内深部脑刺激（GPi-DBS）已被证明可以显着改善这些cases.Methods：：这是一项回顾性研究TOR 1A突变阳性肌张力障碍患者，从2006年到2018年在一所大学医院进行。采用Burke-Fahn-Marsden肌张力障碍评定量表（BFM-DRS）评估手术前后肌张力障碍的严重程度。术后帕金森症状的出现使用统一帕金森病评定量表（UMRS）第三部分进行评价。采用蒙特利尔认知功能评定量表（莫卡）评定认知功能障碍。结果：11例患者入组分析，年龄18-28岁，平均22.36（± 3.35）岁。7例患者（63.6%）为女性。平均随访期为8.72（+/- 0.87）。基线和最近BFM评分之间的差异具有显著性（残疾：10.5 ± 4.52 vs 2.09（± 3.20），P：0.001;严重程度：48.45（± 17.88）vs 9.36（± 10.47），P
Objectives: : Primary generalized dystonia (PGD) due to heterozygous torsin 1A (TOR1A) gene mutation (DYT1) is a childhood onset dystonia with rapid deterioration of symptoms, leading to severe disability in adolescence. Globus pallidus interna deep brain stimulation (GPi-DBS) has been shown to provide significant improvement in these cases.Methods: : This was a retrospective study of TOR1A mutation positive dystonia patients, conducted at a university hospital from 2006 to 2018. Burke-Fahn-Marsden Dystonia Rating Scale (BFM-DRS) was used to evaluate dystonia severity before and after surgery. Emergence of postsurgical parkinsonian symptoms was evaluated using the Unified Parkinson Disease Rating Scale (UPDRS) part III. Montreal Cognitive Assessment (MOCA) was applied to assess cognitive dysfunction. SPSS version 18 was used for data analysis.Results: : Eleven patients entered for analysis with an average age of 22.36 (+/- 3.35) years (range: 18-28). Seven patients (63.6 %) were female. Mean follow-up period was 8.72 (+/- 0.87). Difference between baseline and most recent BFM scores was significant (disability: 10.5 +/- 4.52 versus 2.09 (+/- 3.20), P: 0.001; severity: 48.45 (+/- 17.88) versus 9.36 (+/- 10.47), P