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...
- Autores:
-
Moreno, Sonia
Garcia, Gloria
Saldarriaga, Amanda
Sepulveda-Falla, Diego
Arboleda, Joseph
kosik, Kenneth
Lopera, Francisco
- Tipo de recurso:
- Fecha de publicación:
- 2010
- Institución:
- Universidad de San Buenaventura
- Repositorio:
- Repositorio USB
- Idioma:
- spa
- OAI Identifier:
- oai:bibliotecadigital.usb.edu.co:10819/6560
- Acceso en línea:
- http://hdl.handle.net/10819/6560
- Palabra clave:
- Hereditary vascular dementia
Leukoencephalopathy
Cognitive performance in CADASIL
Neuropsychological markers
Demencia vascular hereditaria
Leucoencefalopatía
Desempeño cognitivo en CADASIL
Marcadores de rasgos neuropsicológicos
Neuropsicología cognitiva
- Rights
- License
- Atribución-NoComercial-SinDerivadas 2.5 Colombia
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| dc.title.spa.fl_str_mv |
Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R |
| dc.title.alternative.spa.fl_str_mv |
Correlación Genotipo-Fenotipo en CADASIL. Desempeño cognitivo en pacientes portadores de las mutaciones R1031C y 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 Demencia vascular hereditaria Leucoencefalopatía Desempeño cognitivo en CADASIL Marcadores de rasgos neuropsicológicos Neuropsicología cognitiva |
| 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.none.fl_str_mv |
Moreno, Sonia Garcia, Gloria Saldarriaga, Amanda Sepulveda-Falla, Diego Arboleda, Joseph kosik, Kenneth Lopera, Francisco |
| dc.subject.spa.fl_str_mv |
Hereditary vascular dementia Leukoencephalopathy Cognitive performance in CADASIL Neuropsychological markers Demencia vascular hereditaria Leucoencefalopatía Desempeño cognitivo en CADASIL Marcadores de rasgos neuropsicológicos |
| topic |
Hereditary vascular dementia Leukoencephalopathy Cognitive performance in CADASIL Neuropsychological markers Demencia vascular hereditaria Leucoencefalopatía Desempeño cognitivo en CADASIL Marcadores de rasgos neuropsicológicos Neuropsicología cognitiva |
| dc.subject.lemb.spa.fl_str_mv |
Neuropsicología cognitiva |
| 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.issued.none.fl_str_mv |
2010 |
| dc.date.accessioned.none.fl_str_mv |
2018-11-20T16:57:10Z |
| dc.date.available.none.fl_str_mv |
2018-11-20T16:57:10Z |
| dc.date.submitted.none.fl_str_mv |
2018-11-19 |
| dc.type.spa.fl_str_mv |
Artículo de revista |
| dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.type.spa.spa.fl_str_mv |
Artículo |
| dc.type.driver.spa.fl_str_mv |
info:eu-repo/semantics/article |
| dc.identifier.citation.spa.fl_str_mv |
Moreno, S., Garcia, G., Saldarriaga, A., Sepulveda-Falla, D., Arboleda, J., Kosik, K., & Lopera, F. (2010). Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R. International Journal of Psychological Research, 3(2), 109–122. https://doi.org/10.21500/20112084.817 |
| dc.identifier.issn.none.fl_str_mv |
2011-7922 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10819/6560 |
| identifier_str_mv |
Moreno, S., Garcia, G., Saldarriaga, A., Sepulveda-Falla, D., Arboleda, J., Kosik, K., & Lopera, F. (2010). Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R. International Journal of Psychological Research, 3(2), 109–122. https://doi.org/10.21500/20112084.817 2011-7922 |
| url |
http://hdl.handle.net/10819/6560 |
| dc.language.iso.spa.fl_str_mv |
spa |
| language |
spa |
| dc.relation.uri.spa.fl_str_mv |
http://dx.doi.org/10.21500/20112084.817 |
| dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
| dc.rights.cc.spa.fl_str_mv |
Atribución-NoComercial-SinDerivadas 2.5 Colombia |
| dc.rights.uri.spa.fl_str_mv |
http://creativecommons.org/licenses/by-nc-nd/2.5/co/ |
| rights_invalid_str_mv |
Atribución-NoComercial-SinDerivadas 2.5 Colombia http://creativecommons.org/licenses/by-nc-nd/2.5/co/ http://purl.org/coar/access_right/c_abf2 |
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pdf |
| dc.format.extent.spa.fl_str_mv |
14 páginas |
| dc.format.medium.spa.fl_str_mv |
Recurso en linea |
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application/pdf |
| dc.publisher.spa.fl_str_mv |
Editorial Bonaventuriana |
| dc.publisher.faculty.spa.fl_str_mv |
Psicología |
| dc.publisher.sede.spa.fl_str_mv |
Medellín |
| dc.source.spa.fl_str_mv |
International Journal of Psychological Research |
| institution |
Universidad de San Buenaventura |
| dc.source.instname.spa.fl_str_mv |
Universidad de San Buenaventura - Medellín |
| dc.source.reponame.spa.fl_str_mv |
Biblioteca Digital Universidad de San Buenaventura |
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Comunidad Científica y AcadémicaMoreno, Soniadf495672-635d-4179-ae88-4f4904cecbfd-1Garcia, Gloriabf80154a-8e66-429c-872e-838cd43a9ec1-1Saldarriaga, Amandac0f4029d-23a3-4abc-b452-467233bbcfbb-1Sepulveda-Falla, Diego4bfcd9cd-16aa-436c-8c31-fddf59445c6f-1Arboleda, Joseph0c00bd80-863f-4857-a646-3f62368cc386-1kosik, Kennethfe0f951f-c237-4a29-ba8a-8457ba9bbee9-1Lopera, Francisco82305b21-9a5c-402d-aa81-450cf9e85d24-12018-11-20T16:57:10Z2018-11-20T16:57:10Z20102018-11-19Even 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.Aunque en la literatura se han descrito ampliamente las alteraciones cognitivas asociadas a la enfermedad cerebrovascular, se conoce aún muy poco sobre la existencia de perfiles neuropsicológicos específicos en familias afectadas con demencia vascular hereditaria tipo CADASIL En Colombia reportamos por primera vez dos familias afectadas con CADASIL, pertenecientes a extensas genealogías del Departamento de Antioquia (Colombia), y portadoras de las mutaciones R1031C y la mutación C455R. en el gen Notch3. En este trabajo se realiza un análisis comparativo en 16 afectados portadores de la mutación R1031C (familia A) y 7 afectados portadores de la mutación C455R (familia B) . Se realiza una descripción del desempeño cognitivo en dos grupos de pacientes portadores de las mutaciones R1031C y C455R en el gen Notch3, a través de la aplicación de protocolos específicos que evalúan diversas funciones cognitivas y funcionalidad. La muestra está compuesta por un grupo de 23 sujetos afectados con diagnóstico clínico molecular de CADASIL. Ambos grupos de sujetos (familia A y familia B) se les administró una batería neuropsicológica, escalas funcionales y escala de depresiónpdf14 páginasRecurso en lineaapplication/pdfMoreno, S., Garcia, G., Saldarriaga, A., Sepulveda-Falla, D., Arboleda, J., Kosik, K., & Lopera, F. (2010). Genotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455R. International Journal of Psychological Research, 3(2), 109–122. https://doi.org/10.21500/20112084.8172011-7922http://hdl.handle.net/10819/6560spaEditorial BonaventurianaPsicologíaMedellínhttp://dx.doi.org/10.21500/20112084.817Atribución-NoComercial-SinDerivadas 2.5 ColombiaPor medio de este formato manifiesto mi voluntad de AUTORIZAR a la Universidad de San Buenaventura, Sede Bogotá, Seccionales Medellín, Cali y Cartagena, la difusión en texto completo de manera gratuita y por tiempo indefinido en la Biblioteca Digital Universidad de San Buenaventura, el documento académico-investigativo objeto de la presente autorización, con fines estrictamente educativos, científicos y culturales, en los términos establecidos en la Ley 23 de 1982, Ley 44 de 1993, Decisión Andina 351 de 1993, Decreto 460 de 1995 y demás normas generales sobre derechos de autor. Como autor manifiesto que el presente documento académico-investigativo es original y se realiza sin violar o usurpar derechos de autor de terceros, por lo tanto, la obra es de mi exclusiva autora y poseo la titularidad sobre la misma. La Universidad de San Buenaventura no será responsable de ninguna utilización indebida del documento por parte de terceros y será exclusivamente mi responsabilidad atender personalmente cualquier reclamación que pueda presentarse a la Universidad. Autorizo a la Biblioteca Digital de la Universidad de San Buenaventura convertir el documento al formato que el repositorio lo requiera (impreso, digital, electrónico o cualquier otro conocido o por conocer) o con fines de preservación digital. Esta autorización no implica renuncia a la facultad que tengo de publicar posteriormente la obra, en forma total o parcial, por lo cual podrá, dando aviso por escrito con no menos de un mes de antelación, solicitar que el documento deje de estar disponible para el público en la Biblioteca Digital de la Universidad de San Buenaventura, así mismo, cuando se requiera por razones legales y/o reglas del editor de una revista.http://creativecommons.org/licenses/by-nc-nd/2.5/co/http://purl.org/coar/access_right/c_abf2International Journal of Psychological ResearchUniversidad de San Buenaventura - MedellínBiblioteca Digital Universidad de San BuenaventuraHereditary vascular dementiaLeukoencephalopathyCognitive performance in CADASILNeuropsychological markersDemencia vascular hereditariaLeucoencefalopatíaDesempeño cognitivo en CADASILMarcadores de rasgos neuropsicológicosNeuropsicología cognitivaGenotype - phenotype correlation in CADASIL. Cognitive performance in carriers of notch3 mutations R1031C and C455RCorrelación Genotipo-Fenotipo en CADASIL. Desempeño cognitivo en pacientes portadores de las mutaciones R1031C y C455RArtículo de revistaArtículoinfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1PublicationORIGINALGenotype_Phenotype_Correlation_Moreno_2010.pdfGenotype_Phenotype_Correlation_Moreno_2010.pdfapplication/pdf357383https://bibliotecadigital.usb.edu.co/bitstreams/c4b8244a-1ebc-4016-b01e-3ead36a293f0/download1d6a9588b16af9ea93e693158ce1b70dMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-82071https://bibliotecadigital.usb.edu.co/bitstreams/195f305b-f100-4315-975a-30cc9b149d99/download0c7b7184e7583ec671a5d9e43f0939c0MD52TEXTGenotype_Phenotype_Correlation_Moreno_2010.pdf.txtGenotype_Phenotype_Correlation_Moreno_2010.pdf.txtExtracted texttext/plain60101https://bibliotecadigital.usb.edu.co/bitstreams/176b57a5-2d04-4278-8439-fb8d3427ea90/download8bae99715ee49b6c60d1305968827ec2MD53THUMBNAILGenotype_Phenotype_Correlation_Moreno_2010.pdf.jpgGenotype_Phenotype_Correlation_Moreno_2010.pdf.jpgGenerated Thumbnailimage/jpeg16741https://bibliotecadigital.usb.edu.co/bitstreams/38db8e8d-18ed-4f3e-82c7-9577c62961cd/downloaddf38ff57b1fa386ae533da193fd8c16aMD5410819/6560oai:bibliotecadigital.usb.edu.co:10819/65602023-04-12 16:39:35.59http://creativecommons.org/licenses/by-nc-nd/2.5/co/https://bibliotecadigital.usb.edu.coRepositorio Institucional Universidad de San Buenaventura Colombiabdigital@metabiblioteca.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 |