Cervical transverse MRI in ALS diagnosis and possible link to VEGF and MMP9 single nucleotide polymorphisms. Case Report

Abstract

We report the case of a patient diagnosed with ALS and presenting with a “snake eyes” sign on axial cervical MRI. Given the peculiar radiological presentation and our patient’s young age, we decided to perform a genetic analysis to better investigate the molecular mechanisms underlying the pathogenesis of his clinical phenotype. In our study, we identified different polymorphisms of interest at the level of VEGF and MMP9 promoters that we suggest could contribute to neuronal sufferance by promoting vascular abnormalities and tissue hypoxia, in accordance with previous published papers. When combined with repetitive mechanical stress at cervical level, as evident in our patient’s case, the resultant radiological image appears to be the “snake eyes” sign in the anterior horns of the cervical spinal cord, while the clinical phenotype is that of an atypical ALS case, possibly an ALS-mimic. To correctly identify and diagnose such patients, in particular when disease course and neuroradiological data do not correspond to those of a classical ALS case, we underline the importance of axial cervical MRI studies and suggest the possibility of their implementation into routine clinical practice.