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Brain Arteriovenous Malformation and Amyotrophic Lateral Sclerosis: a Review Based on Published Cases
SN Comprehensive Clinical Medicine Pub Date : 2020-02-27 , DOI: 10.1007/s42399-020-00231-1
Leonidas Stefanis , Joao Brainer Clares de Andrade , Jay P Mohr

We aimed to describe all the published cases of patients with the previous diagnosis of bAVM that developed ALS at this time. An exploratory research for the describers (“brain arteriovenous malformation” and “amyotrophic lateral sclerosis”) selected four fully available publications. An additional publication was unearthed as a reference in the above-mentioned manuscripts. We found a total of 19 cases in the literature; 47.8% (9/19) were males. The mean age of bAVM diagnosis was 26 (± 2) years, and the time to ALS-related symptoms onset was 14 (± 0.6) years. Sixteen of 19 reported patients, submitted to a mean of 3.8 (± 0.3) embolizations, underwent at least one embolization procedure. Amyotrophic lateral sclerosis (ALS) is a rare, complex devastating neurodegenerative disease. ALS has a genetic component, but it is also associated with environmental factors. A neurovascular hypothesis has been linked to levels of vascular endothelial growth factor (VEGF) in ALS—which emphasizes some reported cases of stroke or brain arteriovenous malformation (bAVM) preceding ALS motor symptoms. Taking this group as a whole, and despite some discrepancies, we suppose that the number of embolizations, site of bAVM, and evidence of perinidal angiogenesis may be related to the development of ALS; however, the association between ALS and bAVM remains without evidence given the small number of published cases.

中文翻译:

脑动静脉畸形和肌萎缩性侧索硬化:基于已发表病例的回顾

我们旨在描述此时已发展为ALS的所有先前诊断为bAVM的已发表患者的病例。对描述者的一项探索性研究(“脑动静脉畸形”和“肌萎缩性侧索硬化症”)选择了四个完全可用的出版物。在上述手稿中还发现了另一本出版物作为参考。我们在文献中总共发现了19个案例。47.8%(9/19)是男性。bAVM诊断的平均年龄为26(±2)岁,发生ALS相关症状的时间为14(±0.6)岁。在19例报告的患者中,有16例接受了平均3.8(±0.3)例栓塞,至少接受了一种栓塞程序。肌萎缩性侧索硬化症(ALS)是一种罕见的复杂破坏性神经退行性疾病。ALS具有遗传成分,但它也与环境因素有关。神经血管假说与ALS中的血管内皮生长因子(VEGF)的水平有关,这强调了一些报道的ALS运动症状之前的中风或脑动静脉畸形(bAVM)病例。总体来看,尽管存在一些差异,但我们认为栓塞的数量,bAVM的位点和围发性血管生成的证据可能与ALS的发展有关。然而,鉴于已发表的病例很少,ALS与bAVM之间的关联仍然没有证据。总体来看,尽管存在一些差异,但我们认为栓塞的数量,bAVM的位点和围发性血管生成的证据可能与ALS的发展有关。然而,鉴于已发表的病例很少,ALS与bAVM之间的关联仍然没有证据。总体来看,尽管存在一些差异,但我们认为栓塞的数量,bAVM的位点和围发性血管生成的证据可能与ALS的发展有关。然而,鉴于已发表的病例很少,ALS与bAVM之间的关联仍然没有证据。
更新日期:2020-02-27
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