Cognitive performance in asymptomatic carriers of mutations R1031C and R141C in CADASIL
Yesica Zuluaga Castaño
Grupo Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.
David Andrés Montoya-Arenas
Lina Velilla
Carolina Ospina
Joseph F. Arboleda-Velasquez
Yakeel T. Quiroz
Francisco Lopera
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Sin título (Español (España))
Sin título (Español (España))

Keywords

cerebrovascular disease
CADASIL
cognitive performance
asymptomatic carriers
mutation
R1031C
R141C
Antioquia population.
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Abstract

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 cross-sectional analytical study divided subjects into three groups: asymptomatic carriers of the R1031C mutation (n = 39), asymptomatic carries of the R141C mutation (n = 8) and non-carriers (n = 50). Statistically significant differences were found (p <0.05) between the group of the R1031C mutation and the non-carriers 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.
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