Not Described Variant of Notch3 Gen for Cadasil Disease.

Autosomal dominant cerebral arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL), is a genetic disease caused by mutations in the Notch3 gene. More than 170 monogenic mutations leading to the development of CADASIL have been reported. We describe a case of a patient and her family with compatible symptoms of CADASIL disease, in which a variable not yet described in the Notch3 gene was detected, that generates a probably pathogenic change in the protein.

Access and unmet needs to multiple sclerosis care in a cohort of Argentinean patients.

Background: Multiple sclerosis (MS) has a low prevalence in Argentina. However, MS has a high burden of disease, which implies frequent neurological visits, magnetic resonance images (MRI) use and chronic MS medication during follow-up, with a high impact on the healthcare system. Therefore, MS care is essential to optimize disease management and improve patients' outcome.