Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R

Even though cognitive impairment in brain vascular disease has been widely described, there is not much known about specific neuropsychological profiles in affected families suffering from hereditary vascular dementia CADASIL. In Colombia we have reported for the first time two large kindreds suffer...

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Autores principales:	Sonia Moreno, Gloria Garcia, Amanda Saldarriaga, Diego Sepulveda-Falla, Joseph Arboleda, Kenneth kosik, Francisco Lopera
Formato:	article
Lenguaje:	EN ES
Publicado:	Universidad de San Buenaventura 2010
Materias:	Hereditary vascular dementia leukoencephalopathy cognitive performance in CADASIL neuropsychological markers. Psychology BF1-990
Acceso en línea:	https://doaj.org/article/b8fc76bb57e247708124915657171887
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spelling	oai:doaj.org-article:b8fc76bb57e2477081249156571718872021-11-25T02:23:48ZGenotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R10.21500/20112084.8172011-20842011-7922https://doaj.org/article/b8fc76bb57e2477081249156571718872010-12-01T00:00:00Zhttps://revistas.usb.edu.co/index.php/IJPR/article/view/817https://doaj.org/toc/2011-2084https://doaj.org/toc/2011-7922Even though cognitive impairment in brain vascular disease has been widely described, there is not much known about specific neuropsychological profiles in affected families suffering from hereditary vascular dementia CADASIL. In Colombia we have reported for the first time two large kindreds suffering from CADASIL in the Antioquia region (Colombia). Those families carry mutations R1031C and C455R in notch 3 gene, respectively. In this study, we have develop a comparative analysis between 16 affected carriers of R1031C (family A) and 7 affected carriers of mutation C455R (family B). This includes a description of cognitive performance in these two groups applying specific protocols evaluating several cognitive functions, depression and everyday functionality. Analysis showed differences in age of onset, evolution time, dementia diagnosis and degree of leukoencephalopaty between R1031C and C455R carriers. Statistically significant differences were found in tests evaluating multiple cognitive domains with higher prevalence of cognitive impairment and dementia in R1031C carriers (p<0.05). There were not statistically significant differences in tests evaluating sustained attention, abstract reasoning, semantical and phonological fluence, reading, arithmetic, executive functions, depression scales and functional scales.Sonia MorenoGloria GarciaAmanda SaldarriagaDiego Sepulveda-FallaJoseph ArboledaKenneth kosikFrancisco LoperaUniversidad de San BuenaventuraarticleHereditary vascular dementialeukoencephalopathycognitive performance in CADASILneuropsychological markers.PsychologyBF1-990ENESInternational Journal of Psychological Research, Vol 3, Iss 2 (2010)
institution	DOAJ
collection	DOAJ
language	EN ES
topic	Hereditary vascular dementia leukoencephalopathy cognitive performance in CADASIL neuropsychological markers. Psychology BF1-990
spellingShingle	Hereditary vascular dementia leukoencephalopathy cognitive performance in CADASIL neuropsychological markers. Psychology BF1-990 Sonia Moreno Gloria Garcia Amanda Saldarriaga Diego Sepulveda-Falla Joseph Arboleda Kenneth kosik Francisco Lopera Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
description	Even though cognitive impairment in brain vascular disease has been widely described, there is not much known about specific neuropsychological profiles in affected families suffering from hereditary vascular dementia CADASIL. In Colombia we have reported for the first time two large kindreds suffering from CADASIL in the Antioquia region (Colombia). Those families carry mutations R1031C and C455R in notch 3 gene, respectively. In this study, we have develop a comparative analysis between 16 affected carriers of R1031C (family A) and 7 affected carriers of mutation C455R (family B). This includes a description of cognitive performance in these two groups applying specific protocols evaluating several cognitive functions, depression and everyday functionality. Analysis showed differences in age of onset, evolution time, dementia diagnosis and degree of leukoencephalopaty between R1031C and C455R carriers. Statistically significant differences were found in tests evaluating multiple cognitive domains with higher prevalence of cognitive impairment and dementia in R1031C carriers (p<0.05). There were not statistically significant differences in tests evaluating sustained attention, abstract reasoning, semantical and phonological fluence, reading, arithmetic, executive functions, depression scales and functional scales.
format	article
author	Sonia Moreno Gloria Garcia Amanda Saldarriaga Diego Sepulveda-Falla Joseph Arboleda Kenneth kosik Francisco Lopera
author_facet	Sonia Moreno Gloria Garcia Amanda Saldarriaga Diego Sepulveda-Falla Joseph Arboleda Kenneth kosik Francisco Lopera
author_sort	Sonia Moreno
title	Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
title_short	Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
title_full	Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
title_fullStr	Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
title_full_unstemmed	Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
title_sort	genotype - phenotype correlation in cadasil. cognitive performance in carriers of notch3 mutations r1031c and c455r
publisher	Universidad de San Buenaventura
publishDate	2010
url	https://doaj.org/article/b8fc76bb57e247708124915657171887
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Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R

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