Abstract

ZULUAGA-CASTANO, Yesica et al. Cognitive performance in asymptomatic carriers of mutations R1031C and R141C in CADASIL. int.j.psychol.res. [online]. 2018, vol.11, n.2, pp.46-55. ISSN 2011-2084.  https://doi.org/10.21500/20112084.3373.

CADASIL is the most common hereditary cause of repeated ischemic strokes, and has also been identified as a model of pure vascular dementia. The objective of this study was to establish the cognitive performance of asymptomatic carriers with the mutations R1031C and R141C. This observational crosssectional analytical study divided subjects into three groups: asymptomatic carriers of the R1031C mutation (𝑛 = 39), asymptomatic carries of the R141C mutation (𝑛 = 8) and noncarriers (𝑛 = 50). Statistically significant differences were found (𝑝 < 0.05) between the group of the R1031C mutation and the noncarriers in constructional praxis, executive function and abstract reasoning. For the R141C mutation, scores below expected values in executive function and mental calculation were observed. It is concluded that asymptomatic carriers of the two mutations showed low performance in working memory, mental abstraction and processing speed, which could be associated with preclinical cognitive biomarkers preceding the presentation of the first vascular event.

Keywords : cerebrovascular disease; CADASIL; cognitive performance; asymptomatic carriers; mutation; R1031C; R141C; Antioquia population.

        · abstract in Spanish     · text in English     · English ( pdf )