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

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spelling	Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R 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 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&lt;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. Moreno, Sonia Garcia, Gloria Saldarriaga, Amanda Sepulveda-Falla, Diego Arboleda, Joseph kosik, Kenneth Lopera, Francisco Hereditary vascular dementia leukoencephalopathy cognitive performance in CADASIL neuropsychological markers. 3 2 Artículo de revista Journal article 2010-12-30T00:00:00Z 2010-12-30T00:00:00Z 2010-12-30 application/pdf Universidad San Buenaventura - USB (Colombia) International Journal of Psychological Research 2011-2084 2011-7922 https://revistas.usb.edu.co/index.php/IJPR/article/view/817 10.21500/20112084.817 https://doi.org/10.21500/20112084.817 eng https://creativecommons.org/licenses/by-nc-sa/4.0/ International Journal of Psychological Research - 2010 109 122 Amberla K, Waljas M, Tuominen S, Almkvist O, Poyhonen M, Tuisku S(2004). Insidious cognitive decline in CADASIL. Stroke. 35(7):1598-1602. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disordes. 4Th Revision ed. Washington DC: 1994 Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE(2002). C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology .59(2):277-279. Blanco MR, Aguado Balsas AM,Blanco,E,Lobo RB,Vera DLP (2001). The Cadasil síndrome: a model of subcortical-cortical disconnection. Rev Neurol;32(8):750-754 Birkett,D. Meter(1998) Psiquiatría clínica y accidente cerebrovascular cerebral. Editorial Masson. España. Pag 7-9. Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger (1998). The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol . 44(5):731-739Uribe CS, Jimenez I, Mora MO, Arana A, Sanchez JL, Zuluaga L et al. (1997) Epidemiology of cerebrovascular diseases in Sabaneta, Colombia . Rev Neurol . 25(143):1008-1012. https://revistas.usb.edu.co/index.php/IJPR/article/download/817/593 info:eu-repo/semantics/article http://purl.org/coar/resource_type/c_6501 info:eu-repo/semantics/publishedVersion http://purl.org/coar/version/c_970fb48d4fbd8a85 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2 Text Publication
institution	UNIVERSIDAD DE SAN BUENAVENTURA
thumbnail	https://nuevo.metarevistas.org/UNIVERSIDADDESANBUENAVENTURA_COLOMBIA/logo.png
country_str	Colombia
collection	International Journal of Psychological Research
title	Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
spellingShingle	Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R Moreno, Sonia Garcia, Gloria Saldarriaga, Amanda Sepulveda-Falla, Diego Arboleda, Joseph kosik, Kenneth Lopera, Francisco Hereditary vascular dementia leukoencephalopathy cognitive performance in CADASIL neuropsychological markers.
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
description_eng	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&lt;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.
author	Moreno, Sonia Garcia, Gloria Saldarriaga, Amanda Sepulveda-Falla, Diego Arboleda, Joseph kosik, Kenneth Lopera, Francisco
author_facet	Moreno, Sonia Garcia, Gloria Saldarriaga, Amanda Sepulveda-Falla, Diego Arboleda, Joseph kosik, Kenneth Lopera, Francisco
topic	Hereditary vascular dementia leukoencephalopathy cognitive performance in CADASIL neuropsychological markers.
topic_facet	Hereditary vascular dementia leukoencephalopathy cognitive performance in CADASIL neuropsychological markers.
citationvolume	3
citationissue	2
publisher	Universidad San Buenaventura - USB (Colombia)
ispartofjournal	International Journal of Psychological Research
source	https://revistas.usb.edu.co/index.php/IJPR/article/view/817
language	eng
format	Article
rights	https://creativecommons.org/licenses/by-nc-sa/4.0/ International Journal of Psychological Research - 2010 info:eu-repo/semantics/openAccess http://purl.org/coar/access_right/c_abf2
references_eng	Amberla K, Waljas M, Tuominen S, Almkvist O, Poyhonen M, Tuisku S(2004). Insidious cognitive decline in CADASIL. Stroke. 35(7):1598-1602. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disordes. 4Th Revision ed. Washington DC: 1994 Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE(2002). C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology .59(2):277-279. Blanco MR, Aguado Balsas AM,Blanco,E,Lobo RB,Vera DLP (2001). The Cadasil síndrome: a model of subcortical-cortical disconnection. Rev Neurol;32(8):750-754 Birkett,D. Meter(1998) Psiquiatría clínica y accidente cerebrovascular cerebral. Editorial Masson. España. Pag 7-9. Dichgans M, Mayer M, Uttner I, Bruning R, Muller-Hocker J, Rungger (1998). The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol . 44(5):731-739Uribe CS, Jimenez I, Mora MO, Arana A, Sanchez JL, Zuluaga L et al. (1997) Epidemiology of cerebrovascular diseases in Sabaneta, Colombia . Rev Neurol . 25(143):1008-1012.
type_driver	info:eu-repo/semantics/article
type_coar	http://purl.org/coar/resource_type/c_6501
type_version	info:eu-repo/semantics/publishedVersion
type_coarversion	http://purl.org/coar/version/c_970fb48d4fbd8a85
type_content	Text
publishDate	2010-12-30
date_accessioned	2010-12-30T00:00:00Z
date_available	2010-12-30T00:00:00Z
url	https://revistas.usb.edu.co/index.php/IJPR/article/view/817
url_doi	https://doi.org/10.21500/20112084.817
issn	2011-2084
eissn	2011-7922
doi	10.21500/20112084.817
citationstartpage	109
citationendpage	122
url2_str_mv	https://revistas.usb.edu.co/index.php/IJPR/article/download/817/593
_version_	1811200835535765504

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

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