Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome

dc.creatorBocanegra García, Orfa Yamile
dc.creatorBáez Buitrago, Sandra Jimena
dc.creatorCouto, Blas
dc.creatorHerrera Murcia, Eduar
dc.creatorTrujillo Orrego, Natalia
dc.creatorMadrigal Zapata, Lucia
dc.creatorCardona Londoño, Juan Felipe
dc.creatorManes, Facundo
dc.creatorIbañez Barassi, Agustín
dc.creatorVillegas Lanau, Carlos Andrés
dc.date2023-02-16T21:15:53Z
dc.date2023-02-16T21:15:53Z
dc.date2013
dc.date.accessioned2024-04-23T14:09:43Z
dc.date.available2024-04-23T14:09:43Z
dc.identifier1663-4365
dc.identifierhttps://hdl.handle.net/10495/33512
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/9229141
dc.descriptionABSTRACT: 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.
dc.descriptionCOL0007551
dc.descriptionCOL0010744
dc.format18
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.publisherFrontiers Media
dc.publisherGrupo Neuropsicología y Conducta
dc.publisherGrupo de Neurociencias de Antioquia
dc.publisherLausana, Suiza
dc.relationFront. Aging. Neurosci.
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rightshttp://creativecommons.org/licenses/by/2.5/co/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.rightshttps://creativecommons.org/licenses/by/4.0/
dc.subjectCockayne Syndrome
dc.subjectSíndrome de Cockayne
dc.subjectCognition
dc.subjectCognición
dc.subjectExecutive Function
dc.subjectFunción Ejecutiva
dc.titleTracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typehttp://purl.org/coar/resource_type/c_2df8fbb1
dc.typehttps://purl.org/redcol/resource_type/ART
dc.typeArtículo de investigación


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