Ischemic stroke is a multifactorial disorder, related to multiple genetic and environmental factors. Despite an increase in stroke risk when there is a positive family history (up to 75% in some trials), the exact contribution of genetics in the development of ischemic stroke in young patients is unknown. Genetic predisposition plays a different role depending on age and type of stroke. These genetic factors combine with conventional ones, like hypertension, diabetes and homocysteine levels; which at the same time interact with the environment in the development of atherosclerosis. Homocysteine has been considered anatherogenic factor in cardiovascular and cerebrovascular disease. We present the case of a previously healthy 49-year old patient, who suffered a partial anterior circulation infarct with a score of 7 according to the NIHSS scale, and a heterocygote methiltetrahydrofolate reductase gene mutation (C677T).

acute ischemic stroke; methiltetrahydrofolate reductase; partial anterior circulation infarct; homocysteine