Tracking the cognitive, social and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome
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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2013-11-01
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| Series: | Frontiers in Aging Neuroscience |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fnagi.2013.00080/full |
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| author | Sandra eBaez Blas eCouto Eduar eHerrera Yamile eBocanegra Natalia eTrujillo-Orrego Lucia eMadrigal-Zapata Juan F. Cardona Facundo eManes Agustin eIbanez Andres eVillegas |
| author_facet | Sandra eBaez Blas eCouto Eduar eHerrera Yamile eBocanegra Natalia eTrujillo-Orrego Lucia eMadrigal-Zapata Juan F. Cardona Facundo eManes Agustin eIbanez Andres eVillegas |
| author_sort | Sandra eBaez |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-21T20:57:21Z |
| format | Article |
| id | doaj.art-a0f4c79be2de4cc39682a8795edd23ff |
| institution | Directory Open Access Journal |
| issn | 1663-4365 |
| language | English |
| last_indexed | 2024-12-21T20:57:21Z |
| publishDate | 2013-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Aging Neuroscience |
| spelling | doaj.art-a0f4c79be2de4cc39682a8795edd23ff2022-12-21T18:50:33ZengFrontiers Media S.A.Frontiers in Aging Neuroscience1663-43652013-11-01510.3389/fnagi.2013.0008061529Tracking the cognitive, social and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndromeSandra eBaez0Blas eCouto1Eduar eHerrera2Yamile eBocanegra3Natalia eTrujillo-Orrego4Lucia eMadrigal-Zapata5Juan F. Cardona6Facundo eManes7Agustin eIbanez8Andres eVillegas9Institute of Cognitive NeurologyInstitute of Cognitive NeurologyUniversidad Autónoma del CaribeFacultad de Psicología, Universidad de San BuenaventuraNeuroscience Research Program, University of AntioquiaNeuroscience Research Program, University of AntioquiaInstitute of Cognitive NeurologyInstitute of Cognitive NeurologyInstitute of Cognitive NeurologyNeuroscience Research Program, University of AntioquiaCockayne 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.http://journal.frontiersin.org/Journal/10.3389/fnagi.2013.00080/fullCockayne Syndromeexecutive functionssocial cognitionVBMERCC8cognitive profile |
| spellingShingle | Sandra eBaez Blas eCouto Eduar eHerrera Yamile eBocanegra Natalia eTrujillo-Orrego Lucia eMadrigal-Zapata Juan F. Cardona Facundo eManes Agustin eIbanez Andres eVillegas Tracking the cognitive, social and neuroanatomical profile in early neurodegeneration: Type III Cockayne syndrome Frontiers in Aging Neuroscience Cockayne Syndrome executive functions social cognition VBM ERCC8 cognitive profile |
| title | 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_short | 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 |
| topic | Cockayne Syndrome executive functions social cognition VBM ERCC8 cognitive profile |
| url | http://journal.frontiersin.org/Journal/10.3389/fnagi.2013.00080/full |
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