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:
Moreno, Sonia
Garcia, Gloria
Saldarriaga, Amanda
Sepulveda-Falla, Diego
Arboleda, Joseph
kosik, Kenneth
Lopera, Francisco
Tipo de recurso:
Article of journal
Fecha de publicación:
2010
Institución:
Universidad de San Buenaventura
Repositorio:
Repositorio USB
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.usb.edu.co:10819/25696
Acceso en línea:
https://hdl.handle.net/10819/25696
https://doi.org/10.21500/20112084.817
Palabra clave:
Hereditary vascular dementia
leukoencephalopathy
cognitive performance in CADASIL
neuropsychological markers.
Rights
openAccess
License
International Journal of Psychological Research - 2010
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network_name_str Repositorio USB
repository_id_str
dc.title.spa.fl_str_mv Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
dc.title.translated.spa.fl_str_mv Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R
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
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
dc.creator.fl_str_mv Moreno, Sonia
Garcia, Gloria
Saldarriaga, Amanda
Sepulveda-Falla, Diego
Arboleda, Joseph
kosik, Kenneth
Lopera, Francisco
dc.contributor.author.eng.fl_str_mv Moreno, Sonia
Garcia, Gloria
Saldarriaga, Amanda
Sepulveda-Falla, Diego
Arboleda, Joseph
kosik, Kenneth
Lopera, Francisco
dc.subject.eng.fl_str_mv Hereditary vascular dementia
leukoencephalopathy
cognitive performance in CADASIL
neuropsychological markers.
topic Hereditary vascular dementia
leukoencephalopathy
cognitive performance in CADASIL
neuropsychological markers.
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.
publishDate 2010
dc.date.accessioned.none.fl_str_mv 2010-12-30T00:00:00Z
2025-07-31T16:11:17Z
dc.date.available.none.fl_str_mv 2010-12-30T00:00:00Z
2025-07-31T16:11:17Z
dc.date.issued.none.fl_str_mv 2010-12-30
dc.type.spa.fl_str_mv Artículo de revista
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dc.identifier.doi.none.fl_str_mv 10.21500/20112084.817
dc.identifier.eissn.none.fl_str_mv 2011-7922
dc.identifier.issn.none.fl_str_mv 2011-2084
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https://doi.org/10.21500/20112084.817
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dc.relation.ispartofjournal.eng.fl_str_mv International Journal of Psychological Research
dc.relation.references.eng.fl_str_mv 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.
dc.rights.eng.fl_str_mv International Journal of Psychological Research - 2010
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institution Universidad de San Buenaventura
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spelling Moreno, SoniaGarcia, GloriaSaldarriaga, AmandaSepulveda-Falla, DiegoArboleda, Josephkosik, KennethLopera, Francisco2010-12-30T00:00:00Z2025-07-31T16:11:17Z2010-12-30T00:00:00Z2025-07-31T16:11:17Z2010-12-30Even 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.application/pdf10.21500/20112084.8172011-79222011-2084https://hdl.handle.net/10819/25696https://doi.org/10.21500/20112084.817engUniversidad San Buenaventura - USB (Colombia)https://revistas.usb.edu.co/index.php/IJPR/article/download/817/59312221093International Journal of Psychological ResearchAmberla 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.International Journal of Psychological Research - 2010info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-sa/4.0/https://revistas.usb.edu.co/index.php/IJPR/article/view/817Hereditary vascular dementialeukoencephalopathycognitive performance in CADASILneuropsychological markers.Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455RGenotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455RArtículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85Textinfo:eu-repo/semantics/articleJournal articleinfo:eu-repo/semantics/publishedVersionPublicationOREORE.xmltext/xml2885https://bibliotecadigital.usb.edu.co/bitstreams/2b8484b8-0dbf-4ee5-88f4-b91af32d110a/download6546411a28719d7c2adf621769eb03a7MD5110819/25696oai:bibliotecadigital.usb.edu.co:10819/256962025-07-31 11:11:17.652https://creativecommons.org/licenses/by-nc-sa/4.0/https://bibliotecadigital.usb.edu.coRepositorio Institucional Universidad de San Buenaventura Colombiabdigital@metabiblioteca.com

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