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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/88820
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/88820
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling 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 Técnicas2025-10-15T15:35:22Zoai: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:34982025-10-15 15:35:22.87CONICET 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
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dc.publisher.none.fl_str_mv Frontiers Research Foundation
publisher.none.fl_str_mv Frontiers Research Foundation
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
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reponame_str CONICET Digital (CONICET)
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instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv 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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