Genetic and NONGENETIC factors associated with CADASIL: A retrospective cohort study

Objective: To explore the role of cardiovascular risk factors and the different NOTCH-3 mutations to explain the variability observed in the clinical presentation of CADASIL.Methods: This was a retrospective cohort study of 331 individuals, 90 were carriers of four mutations in the NOTCH3 gene. These four mutations are the ones identified in our region from the genetic evaluation of probands. Cox proportional hazards models were fitted to estimate the effect of genetic and cardiovascular factors on the onset of migraine, first stroke, and dementia.
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Source Type: research