Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene
In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. For this study we selected a group of ten homozygous carriers of Parkin mutation C212Y with diagnosis of PD, and ten healthy relatives as controls. The neuro...
- Autores:
-
Moreno, Sonia
Buriticá, Omar
Franco, Alejandro
Pineda, Nicolás
Arias, William
Sepúlveda, Diego
Aguirre, Camilo
Tamayo, William
Uribe, Santiago
Bedoya, Gabriel
Ruiz-Linares, Andrés
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:10819/6554
- Acceso en línea:
- http://hdl.handle.net/10819/6554
- Palabra clave:
- Cognitive alterations
Familial Parkinson´s disease
Juvenile Parkinson´s disease
MutationC212Y
Parkin gene
Parkinson Juvenil
Parkinson Familiar
Parkin
Fenotipo Cognitivo
Sin Lemb
- Rights
- License
- Atribución-NoComercial-SinDerivadas 2.5 Colombia
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| dc.title.spa.fl_str_mv |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene |
| dc.title.alternative.spa.fl_str_mv |
Alteraciones cognitivas en Parkinson Juvenil causado por la mutación C212Y en el gen Parkin. |
| title |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene |
| spellingShingle |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y Parkin gene Parkinson Juvenil Parkinson Familiar Parkin Fenotipo Cognitivo Sin Lemb |
| title_short |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene |
| title_full |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene |
| title_fullStr |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene |
| title_full_unstemmed |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene |
| title_sort |
Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene |
| dc.creator.fl_str_mv |
Moreno, Sonia Buriticá, Omar Franco, Alejandro Pineda, Nicolás Arias, William Sepúlveda, Diego Aguirre, Camilo Tamayo, William Uribe, Santiago Bedoya, Gabriel Ruiz-Linares, Andrés Lopera, Francisco |
| dc.contributor.author.none.fl_str_mv |
Moreno, Sonia Buriticá, Omar Franco, Alejandro Pineda, Nicolás Arias, William Sepúlveda, Diego Aguirre, Camilo Tamayo, William Uribe, Santiago Bedoya, Gabriel Ruiz-Linares, Andrés Lopera, Francisco |
| dc.subject.spa.fl_str_mv |
Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y Parkin gene Parkinson Juvenil Parkinson Familiar Parkin Fenotipo Cognitivo |
| topic |
Cognitive alterations Familial Parkinson´s disease Juvenile Parkinson´s disease MutationC212Y Parkin gene Parkinson Juvenil Parkinson Familiar Parkin Fenotipo Cognitivo Sin Lemb |
| dc.subject.lemb.spa.fl_str_mv |
Sin Lemb |
| description |
In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. For this study we selected a group of ten homozygous carriers of Parkin mutation C212Y with diagnosis of PD, and ten healthy relatives as controls. The neuropsychological evaluation revealed statistically significant differences between the two groups (p < 0.05) in Minimental State Examination and in tests evaluating working memory and attention in which prolonged execution times and marked slowing down of information processing were observed. We suggest that the observed alterations could be considered as neuropsychological features of patients with the C212Y mutation in the Parkin gene, the phenotypic expression of which seems to be associated in this population with slow evolution, mild cognitive impairment and functional involvement. |
| publishDate |
2010 |
| dc.date.issued.none.fl_str_mv |
2010 |
| dc.date.accessioned.none.fl_str_mv |
2018-11-20T16:04:56Z |
| dc.date.available.none.fl_str_mv |
2018-11-20T16:04:56Z |
| 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 |
Rodríguez Escobar, F. J., Hernández Granda, E., Herrero Olaizola, J., Estrada Pineda, C., Chan Gamba, C., & Bringas Molleda, C. (2010). Relationship between violence and social integration in classrooms of elementary education. International Journal of Psychological Research, 3(2), 34–42. https://doi.org/10.21500/20112084.810 |
| dc.identifier.issn.none.fl_str_mv |
2011-7922 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10819/6554 |
| identifier_str_mv |
Rodríguez Escobar, F. J., Hernández Granda, E., Herrero Olaizola, J., Estrada Pineda, C., Chan Gamba, C., & Bringas Molleda, C. (2010). Relationship between violence and social integration in classrooms of elementary education. International Journal of Psychological Research, 3(2), 34–42. https://doi.org/10.21500/20112084.810 2011-7922 |
| url |
http://hdl.handle.net/10819/6554 |
| dc.language.iso.spa.fl_str_mv |
spa |
| language |
spa |
| dc.relation.uri.spa.fl_str_mv |
http://dx.doi.org/10.21500/20112084.812 |
| 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 |
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8 páginas |
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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 |
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Biblioteca Digital Universidad de San Buenaventura |
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Comunidad Científica y AcadémicaMoreno, Soniadf495672-635d-4179-ae88-4f4904cecbfd-1Buriticá, Omar3b929701-dc27-4064-a293-faf93af07156-1Franco, Alejandro7f64f6a9-e131-48d1-a510-9eb7f995b76c-1Pineda, Nicolás0f7c7f3d-45f3-4d4f-8678-a37e81c7a97d-1Arias, Williamd657cf41-1600-42d5-8e3c-ec535c4c5b88-1Sepúlveda, Diego9cf761be-f856-48e1-8c77-36214b1b8dba-1Aguirre, Camilo7fdabeff-42cb-46d9-bdc4-1b24841dc44c-1Tamayo, Williamee974abd-4593-41da-a8f9-03924eff4bbb-1Uribe, Santiagof2efe2e2-d164-4142-86e9-bef199890e62-1Bedoya, Gabriel20d9a454-e1b6-4c79-a902-006e462478ca-1Ruiz-Linares, Andrésbcee6631-4e2d-4b5a-bc5a-f435e1103d84-1Lopera, Francisco82305b21-9a5c-402d-aa81-450cf9e85d24-12018-11-20T16:04:56Z2018-11-20T16:04:56Z20102018-11-19In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. For this study we selected a group of ten homozygous carriers of Parkin mutation C212Y with diagnosis of PD, and ten healthy relatives as controls. The neuropsychological evaluation revealed statistically significant differences between the two groups (p < 0.05) in Minimental State Examination and in tests evaluating working memory and attention in which prolonged execution times and marked slowing down of information processing were observed. We suggest that the observed alterations could be considered as neuropsychological features of patients with the C212Y mutation in the Parkin gene, the phenotypic expression of which seems to be associated in this population with slow evolution, mild cognitive impairment and functional involvement.En Antioquia (Colombia) hay reportadas cuatro grandes familias afectadas con enfermedad de Parkinson Familiar Juvenil portadoras de la mutación C212Y en el gen Parkin. Nosotros seleccionamos un grupo de 10 sujetos con diagnóstico de enfermedad de Parkinson (EP), portadores de la mutación C212Y y un grupo de 10 familiares sanos (no portadores). En el ámbito neuropsicológico se evidencian diferencias significativas entre los grupos (p<0.05) en el minimental state, y en pruebas que evalúan la memoria inmediata y la atención, observandose tiempos prolongados de ejecución y marcada lentificación. Esta investigación sugiere que las alteraciones observadas podrían ser consideradas como rasgos neuropsicológicos de los pacientes con la mutación C212Y en el gen Parkin, cuya expresión fenotípica en esta población parece estar asociada con una lenta evolución y a deterioro cognitivo leve (DCL).pdf8 páginasRecurso en lineaapplication/pdfRodríguez Escobar, F. J., Hernández Granda, E., Herrero Olaizola, J., Estrada Pineda, C., Chan Gamba, C., & Bringas Molleda, C. (2010). Relationship between violence and social integration in classrooms of elementary education. International Journal of Psychological Research, 3(2), 34–42. https://doi.org/10.21500/20112084.8102011-7922http://hdl.handle.net/10819/6554spaEditorial BonaventurianaPsicologíaMedellínhttp://dx.doi.org/10.21500/20112084.812Atribución-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 BuenaventuraCognitive alterationsFamilial Parkinson´s diseaseJuvenile Parkinson´s diseaseMutationC212YParkin geneParkinson JuvenilParkinson FamiliarParkinFenotipo CognitivoSin LembCognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin geneAlteraciones cognitivas en Parkinson Juvenil causado por la mutación C212Y en el gen Parkin.Artículo de revistaArtículoinfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1PublicationORIGINALCognitive_Alterations_Juvenile_Moreno_2010.pdfCognitive_Alterations_Juvenile_Moreno_2010.pdfapplication/pdf265134https://bibliotecadigital.usb.edu.co/bitstreams/2cfdd542-0234-47c0-b5c6-63990a34206d/download9822f3848ceb077e8b969dff7b74bfe9MD51LICENSElicense.txtlicense.txttext/plain; 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