TY - JOUR
T1 - Cognitive performance in asymptomatic carriers of mutations R1031C and R141C in CADASIL
AU - Zuluaga-Castaño, Yesica
AU - Montoya-Arenas, David Andrés
AU - Velilla, Lina
AU - Ospina, Carolina
AU - Arboleda-Velasquez, Joseph F.
AU - Quiroz, Yakeel T.
AU - Lopera, Francisco
N1 - Publisher Copyright:
© 2018 Universidad San Buenaventura. All rights reserved.
PY - 2018/9/1
Y1 - 2018/9/1
N2 - 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.
AB - 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.
KW - Antioquia population
KW - Asymptomatic carriers
KW - CADASIL
KW - Cerebrovascular disease
KW - Cognitive performance
KW - Mutation
KW - R1031C
KW - R141C
UR - http://www.scopus.com/inward/record.url?scp=85052881570&partnerID=8YFLogxK
U2 - 10.21500/20112084.3373
DO - 10.21500/20112084.3373
M3 - Artículo en revista científica indexada
AN - SCOPUS:85052881570
SN - 2011-2084
VL - 11
SP - 46
EP - 55
JO - International Journal of Psychological Research
JF - International Journal of Psychological Research
IS - 2
ER -