Three new case reports of Arteriovenous malformation-related Amyotrophic Lateral Sclerosis.

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Three new case reports of Arteriovenous malformation-related Amyotrophic Lateral Sclerosis.

J Neurol Sci. 2018 Aug 09;393:58-62

Authors: Chondrogianni M, Bregianni M, Frantzeskaki F, Giamarellos-Bourboulis E, Anagnostou E, Kararizou E, Karadima G, Koutsis G, Moschovos C, Bonakis A, Stefanis L

Despite recent advances in genetics, in most cases of Amyotrophic Lateral Sclerosis (ALS) no etiological factor can be identified. Cerebral Arteriovenous Malformations (AVMs) have been associated with ALS development in a few studies, but the nature of this connection is unclear. We report here 3 additional cases of young adults, who had undergone repeated embolizations for complex AVMs, and who then developed, after many years, ALS symptoms and signs. In two of these cases Vascular Endothelial Growth Factor (VEGF) levels were found to be extremely high, in contrast to previous reports. Our 3 cases, together with the previously reported ones, suggest that a subgroup of patients with AVMs, with a particular profile of a complex nidus with repeated embolization procedures, are at increased risk of developing ALS. The reason for this association is unclear, but may relate to dysregulation of secreted vascular factors, as suggested by our VEGF results, or more broadly to the neurovascular hypothesis of ALS. Alternatively, a transneuronal type of neurodegeneration may be involved.

PMID: 30114551 [PubMed – as supplied by publisher]

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