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  • Author or Editor: Marco M. Fontanella x
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Pier Paolo Panciani, Marco Fontanella, Emanuela Crobeddu, Bawarjan Schatlo, Mauro Bergui, and Alessandro Ducati

Knowledge of spinal cord arteriovenous malformations (AVMs) has recently been improved by studies on pathophysiology, neuroimaging, and genetic data. Nevertheless, the natural history of these lesions remains poorly understood.

The authors present the case of an angiographic regression of a nidal-type spinal AVM at T-12 to L-1 in a 46-year-old woman with no risk factors. The natural course of untreated lesions is reviewed and discussed. To the best of the authors' knowledge, this is the first study that reports an angiographically proven complete spontaneous occlusion of a spinal AVM.

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Edoardo Agosti, Francesco Doglietto, and Marco M. Fontanella

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Marco Fontanella, Innocenzo Rainero, Salvatore Gallone, Elisa Rubino, Chiara Rivoiro, Walter Valfrè, Diego Garbossa, Chiara Nurisso, Alessandro Ducati, and Lorenzo Pinessi

Object

The results of genome-wide scan studies have suggested the presence of a genetic risk factor for aneurysmal subarachnoid hemorrhage (SAH) on chromosome 19 (at 19p13). The apolipoprotein E (APOE) gene is located in this chromosomal region and encodes a protein that exerts several neuroprotective and neurotrophic functions in the brain. The purpose of this study was to evaluate whether a particular allele or genotype of the APOE gene would modify the occurrence or the clinical features of SAH.

Methods

Genomic DNA was extracted from 146 patients with aneurysmal SAH and 222 age- and sex-matched healthy controls and genotyped for the triallelic polymorphism of the APOE gene (ε2, ε3, and ε4). Allele and genotype frequencies were compared between patients and controls. The clinical characteristics of the disease were compared according to the different APOE genotypes. Allele and genotype frequencies of the APOE gene polymorphism were nearly identical in cases and controls. Patients carrying the APOE ε4 allele had a significantly higher Hunt and Hess grade on admission (p = 0.0014). There was no significant relationship between any of the other clinical characteristics and the APOE genotype.

Conclusions

The authors’ data do not support the hypothesis that genetic variations within the APOE gene are associated with aneurysmal SAH. However, the APOE gene influences the disease phenotype and may be regarded as a disease modifier gene.