Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome
- Autores
- Báez Buitrago, Sandra Jimena; Couto, Juan Blas Marcos; Herrera, Eduar; Bocanegra, Yamile; Trujillo Orrego, Natalia; Madriga Zapata, Lucia; Cardona Londoño, Juan Felipe; Manes, Facundo Francisco; Ibáñez Barassi, Agustín Mariano; Villegas, Andres
- Año de publicación
- 2013
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral and cerebellar atrophy, brain calcifications, and white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay and cognitive impairment with relative preservation of social skills, no previous studies have carried out a comprehensive neuropsychological and social cognition assessment. Furthermore, no previous research in individuals with CS has examined the relationship between brain atrophy and performance on neuropsychological and social cognition tests. This study describes the case of an atypical late-onset type III CS patient who exceeds the mean life expectancy of individuals with this pathology. The patient and a group of healthy controls underwent a comprehensive assessment that included multiple neuropsychological and social cognition (emotion recognition, theory of mind, and empathy) tasks. In addition, we compared the pattern of atrophy in the patient to controls and to its concordance with ERCC8 gene expression in a healthy brain. The results showed memory, language, and executive deficits that contrast with the relative preservation of social cognition skills. The cognitive profile of the patient was consistent with his pattern of global cerebral and cerebellar loss of gray matter volume (frontal structures, bilateral cerebellum, basal ganglia, temporal lobe, and occipito-temporal/occipito-parietal regions), which in turn was anatomically consistent with the ERCC8 gene expression level in a healthy donor's brain. The study of exceptional cases, such as the one described here, is fundamental to elucidating the processes that affect the brain in premature aging diseases, and such studies provide an important source of information for understanding the problems associated with normal and pathological aging.
Fil: Báez Buitrago, Sandra Jimena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Diego Portales; Chile. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires"; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina
Fil: Couto, Juan Blas Marcos. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina
Fil: Herrera, Eduar. Universidad Autónoma del Caribe; Colombia
Fil: Bocanegra, Yamile. Universidad de Antioquia; Colombia. Universidad de San Buenaventura; Colombia
Fil: Trujillo Orrego, Natalia. Universidad de Antioquia; Colombia
Fil: Madriga Zapata, Lucia. Universidad de Antioquia; Colombia
Fil: Cardona Londoño, Juan Felipe. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina
Fil: Manes, Facundo Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Australian Government, Australian Research Council; Australia. Universidad Diego Portales; Chile. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina
Fil: Ibáñez Barassi, Agustín Mariano. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Diego Portales; Chile. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina
Fil: Villegas, Andres. Universidad de Antioquia; Colombia - Materia
-
COCKAYNE SYNDROME
COGNITIVE PROFILE
EARLY-ONSET NEURODEGENERATION
ERCC8
EXECUTIVE FUNCTIONS
SOCIAL COGNITION
VBM - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/88820
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Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndromeBáez Buitrago, Sandra JimenaCouto, Juan Blas MarcosHerrera, EduarBocanegra, YamileTrujillo Orrego, NataliaMadriga Zapata, LuciaCardona Londoño, Juan FelipeManes, Facundo FranciscoIbáñez Barassi, Agustín MarianoVillegas, AndresCOCKAYNE SYNDROMECOGNITIVE PROFILEEARLY-ONSET NEURODEGENERATIONERCC8EXECUTIVE FUNCTIONSSOCIAL COGNITIONVBMhttps://purl.org/becyt/ford/5.1https://purl.org/becyt/ford/5Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral and cerebellar atrophy, brain calcifications, and white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay and cognitive impairment with relative preservation of social skills, no previous studies have carried out a comprehensive neuropsychological and social cognition assessment. Furthermore, no previous research in individuals with CS has examined the relationship between brain atrophy and performance on neuropsychological and social cognition tests. This study describes the case of an atypical late-onset type III CS patient who exceeds the mean life expectancy of individuals with this pathology. The patient and a group of healthy controls underwent a comprehensive assessment that included multiple neuropsychological and social cognition (emotion recognition, theory of mind, and empathy) tasks. In addition, we compared the pattern of atrophy in the patient to controls and to its concordance with ERCC8 gene expression in a healthy brain. The results showed memory, language, and executive deficits that contrast with the relative preservation of social cognition skills. The cognitive profile of the patient was consistent with his pattern of global cerebral and cerebellar loss of gray matter volume (frontal structures, bilateral cerebellum, basal ganglia, temporal lobe, and occipito-temporal/occipito-parietal regions), which in turn was anatomically consistent with the ERCC8 gene expression level in a healthy donor's brain. The study of exceptional cases, such as the one described here, is fundamental to elucidating the processes that affect the brain in premature aging diseases, and such studies provide an important source of information for understanding the problems associated with normal and pathological aging.Fil: Báez Buitrago, Sandra Jimena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Diego Portales; Chile. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires"; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; ArgentinaFil: Couto, Juan Blas Marcos. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; ArgentinaFil: Herrera, Eduar. Universidad Autónoma del Caribe; ColombiaFil: Bocanegra, Yamile. Universidad de Antioquia; Colombia. Universidad de San Buenaventura; ColombiaFil: Trujillo Orrego, Natalia. Universidad de Antioquia; ColombiaFil: Madriga Zapata, Lucia. Universidad de Antioquia; ColombiaFil: Cardona Londoño, Juan Felipe. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; ArgentinaFil: Manes, Facundo Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Australian Government, Australian Research Council; Australia. Universidad Diego Portales; Chile. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; ArgentinaFil: Ibáñez Barassi, Agustín Mariano. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Diego Portales; Chile. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; ArgentinaFil: Villegas, Andres. Universidad de Antioquia; ColombiaFrontiers Research Foundation2013-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/88820Báez Buitrago, Sandra Jimena; Couto, Juan Blas Marcos; Herrera, Eduar; Bocanegra, Yamile; Trujillo Orrego, Natalia; et al.; Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome; Frontiers Research Foundation; Frontiers in Aging Neuroscience; 5; 80; 11-2013; 1-181663-4365CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.3389/fnagi.2013.00080info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fnagi.2013.00080info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:37:57Zoai:ri.conicet.gov.ar:11336/88820instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:37:57.837CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome |
title |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome |
spellingShingle |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome Báez Buitrago, Sandra Jimena COCKAYNE SYNDROME COGNITIVE PROFILE EARLY-ONSET NEURODEGENERATION ERCC8 EXECUTIVE FUNCTIONS SOCIAL COGNITION VBM |
title_short |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome |
title_full |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome |
title_fullStr |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome |
title_full_unstemmed |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome |
title_sort |
Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome |
dc.creator.none.fl_str_mv |
Báez Buitrago, Sandra Jimena Couto, Juan Blas Marcos Herrera, Eduar Bocanegra, Yamile Trujillo Orrego, Natalia Madriga Zapata, Lucia Cardona Londoño, Juan Felipe Manes, Facundo Francisco Ibáñez Barassi, Agustín Mariano Villegas, Andres |
author |
Báez Buitrago, Sandra Jimena |
author_facet |
Báez Buitrago, Sandra Jimena Couto, Juan Blas Marcos Herrera, Eduar Bocanegra, Yamile Trujillo Orrego, Natalia Madriga Zapata, Lucia Cardona Londoño, Juan Felipe Manes, Facundo Francisco Ibáñez Barassi, Agustín Mariano Villegas, Andres |
author_role |
author |
author2 |
Couto, Juan Blas Marcos Herrera, Eduar Bocanegra, Yamile Trujillo Orrego, Natalia Madriga Zapata, Lucia Cardona Londoño, Juan Felipe Manes, Facundo Francisco Ibáñez Barassi, Agustín Mariano Villegas, Andres |
author2_role |
author author author author author author author author author |
dc.subject.none.fl_str_mv |
COCKAYNE SYNDROME COGNITIVE PROFILE EARLY-ONSET NEURODEGENERATION ERCC8 EXECUTIVE FUNCTIONS SOCIAL COGNITION VBM |
topic |
COCKAYNE SYNDROME COGNITIVE PROFILE EARLY-ONSET NEURODEGENERATION ERCC8 EXECUTIVE FUNCTIONS SOCIAL COGNITION VBM |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/5.1 https://purl.org/becyt/ford/5 |
dc.description.none.fl_txt_mv |
Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral and cerebellar atrophy, brain calcifications, and white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay and cognitive impairment with relative preservation of social skills, no previous studies have carried out a comprehensive neuropsychological and social cognition assessment. Furthermore, no previous research in individuals with CS has examined the relationship between brain atrophy and performance on neuropsychological and social cognition tests. This study describes the case of an atypical late-onset type III CS patient who exceeds the mean life expectancy of individuals with this pathology. The patient and a group of healthy controls underwent a comprehensive assessment that included multiple neuropsychological and social cognition (emotion recognition, theory of mind, and empathy) tasks. In addition, we compared the pattern of atrophy in the patient to controls and to its concordance with ERCC8 gene expression in a healthy brain. The results showed memory, language, and executive deficits that contrast with the relative preservation of social cognition skills. The cognitive profile of the patient was consistent with his pattern of global cerebral and cerebellar loss of gray matter volume (frontal structures, bilateral cerebellum, basal ganglia, temporal lobe, and occipito-temporal/occipito-parietal regions), which in turn was anatomically consistent with the ERCC8 gene expression level in a healthy donor's brain. The study of exceptional cases, such as the one described here, is fundamental to elucidating the processes that affect the brain in premature aging diseases, and such studies provide an important source of information for understanding the problems associated with normal and pathological aging. Fil: Báez Buitrago, Sandra Jimena. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Diego Portales; Chile. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires"; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina Fil: Couto, Juan Blas Marcos. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina Fil: Herrera, Eduar. Universidad Autónoma del Caribe; Colombia Fil: Bocanegra, Yamile. Universidad de Antioquia; Colombia. Universidad de San Buenaventura; Colombia Fil: Trujillo Orrego, Natalia. Universidad de Antioquia; Colombia Fil: Madriga Zapata, Lucia. Universidad de Antioquia; Colombia Fil: Cardona Londoño, Juan Felipe. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina Fil: Manes, Facundo Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Australian Government, Australian Research Council; Australia. Universidad Diego Portales; Chile. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina Fil: Ibáñez Barassi, Agustín Mariano. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Diego Portales; Chile. Universidad Favaloro; Argentina. Instituto de Neurología Cognitiva; Argentina Fil: Villegas, Andres. Universidad de Antioquia; Colombia |
description |
Cockayne syndrome (CS) is an autosomal recessive disease associated with premature aging, progressive multiorgan degeneration, and nervous system abnormalities including cerebral and cerebellar atrophy, brain calcifications, and white matter abnormalities. Although several clinical descriptions of CS patients have reported developmental delay and cognitive impairment with relative preservation of social skills, no previous studies have carried out a comprehensive neuropsychological and social cognition assessment. Furthermore, no previous research in individuals with CS has examined the relationship between brain atrophy and performance on neuropsychological and social cognition tests. This study describes the case of an atypical late-onset type III CS patient who exceeds the mean life expectancy of individuals with this pathology. The patient and a group of healthy controls underwent a comprehensive assessment that included multiple neuropsychological and social cognition (emotion recognition, theory of mind, and empathy) tasks. In addition, we compared the pattern of atrophy in the patient to controls and to its concordance with ERCC8 gene expression in a healthy brain. The results showed memory, language, and executive deficits that contrast with the relative preservation of social cognition skills. The cognitive profile of the patient was consistent with his pattern of global cerebral and cerebellar loss of gray matter volume (frontal structures, bilateral cerebellum, basal ganglia, temporal lobe, and occipito-temporal/occipito-parietal regions), which in turn was anatomically consistent with the ERCC8 gene expression level in a healthy donor's brain. The study of exceptional cases, such as the one described here, is fundamental to elucidating the processes that affect the brain in premature aging diseases, and such studies provide an important source of information for understanding the problems associated with normal and pathological aging. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013-11 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/88820 Báez Buitrago, Sandra Jimena; Couto, Juan Blas Marcos; Herrera, Eduar; Bocanegra, Yamile; Trujillo Orrego, Natalia; et al.; Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome; Frontiers Research Foundation; Frontiers in Aging Neuroscience; 5; 80; 11-2013; 1-18 1663-4365 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/88820 |
identifier_str_mv |
Báez Buitrago, Sandra Jimena; Couto, Juan Blas Marcos; Herrera, Eduar; Bocanegra, Yamile; Trujillo Orrego, Natalia; et al.; Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome; Frontiers Research Foundation; Frontiers in Aging Neuroscience; 5; 80; 11-2013; 1-18 1663-4365 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.3389/fnagi.2013.00080 info:eu-repo/semantics/altIdentifier/url/https://www.frontiersin.org/articles/10.3389/fnagi.2013.00080 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Frontiers Research Foundation |
publisher.none.fl_str_mv |
Frontiers Research Foundation |
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reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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13.070432 |