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针对遗传性病因所致痉挛的选择性背根切断术。

Selective dorsal rhizotomy for spasticity of genetic etiology.

作者信息

Lohkamp Laura-Nanna, Coulter Ian, Ibrahim George M

机构信息

Division of Neurosurgery, The Hospital for Sick Children, 555 University Ave, Suite 1503, Toronto, Ontario, M5G 1X8, Canada.

出版信息

Childs Nerv Syst. 2020 Jul;36(7):1357-1365. doi: 10.1007/s00381-020-04601-x. Epub 2020 Apr 16.

DOI:10.1007/s00381-020-04601-x
PMID:32300873
Abstract

Objective Selective dorsal rhizotomy (SDR) is most commonly applied in the context of the treatment of the spastic diplegic variant of cerebral palsy (CP). Its role in the treatment of spasticity associated with other conditions is not well-established. We sought to review outcomes following SDR for the treatment of functionally limiting spasticity in the setting of a genetic etiology. Methods A systematic literature review was performed using the databases Ovid Medline, Embase, Cochrane Library, and PubMed based on the PRISMA guidelines. Articles were included if they described the application of SDR for spasticity of genetic etiology. Reported outcomes pertaining to spasticity and gross motor function following SDR were summarized. Results Five articles reporting on 16 patients (10 males, 6 females) met the inclusion criteria, of which four reported on SDR for hereditary spastic paraplegia (HSP) and four on syndromic patients or other inherited diseases, with an overall follow-up ranging from 11 to 252 months. These individuals were found to have several genetic mutations including ALS2, SPG4, and SPG3A. The mean age at the time of surgery was 14.9 years (median 10 years, range 3-37 years). Conclusions Although all patients experienced a reduction in spasticity, the long-term gross motor functional outcomes objectively assessed at last follow-up were heterogeneous. There may be a role for SDR in the context of static genetic disorders causing spasticity. Further evidence is required prior to the widespread adoption of SDR for such disorders as, based on the collective observations of this review, spasticity is consistently reduced but the long-term effect on gross motor function remains unclear.

摘要

目的 选择性背根切断术(SDR)最常用于治疗痉挛型双瘫型脑瘫(CP)。其在治疗与其他病症相关的痉挛方面的作用尚未明确确立。我们试图回顾SDR治疗遗传性病因导致的功能受限痉挛后的结果。方法 根据PRISMA指南,使用Ovid Medline、Embase、Cochrane图书馆和PubMed数据库进行系统的文献综述。如果文章描述了SDR在遗传性病因痉挛中的应用,则纳入研究。总结了SDR后报告的与痉挛和粗大运动功能相关的结果。结果 五篇报告16例患者(10例男性,6例女性)的文章符合纳入标准,其中四篇报告了SDR治疗遗传性痉挛性截瘫(HSP),四篇报告了综合征患者或其他遗传性疾病,总体随访时间为11至252个月。这些个体被发现有几种基因突变,包括ALS2、SPG4和SPG3A。手术时的平均年龄为14.9岁(中位数10岁,范围3 - 37岁)。结论 尽管所有患者的痉挛均有所减轻,但在最后一次随访时客观评估的长期粗大运动功能结果存在异质性。在导致痉挛的静态遗传性疾病中,SDR可能有一定作用。在广泛采用SDR治疗此类疾病之前,还需要进一步的证据,因为根据本综述的综合观察,痉挛持续减轻,但对粗大运动功能的长期影响仍不清楚。

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