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Tracking the cognitive, social, and neuroanatomical profile in early neurodegeneration: type III Cockayne syndrome

AutoresBáez S, Couto JB, Herrera E, Bocanegra Y, Trujillo-Orrego N, Madrigal L, Cardona JF, Manes F, Ibanez A, Villegas A
Año11/2013
JournalFrontiers in Aging Neurocience
Volumen5
Páginas80
Estado de la publicaciónPublicado
AbstractCockayne 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 ERCC8gene 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.
Otra informaciónEn este trabajo reportamos la primer descripción multinivel (genética, cognitiva y cerebral) de un caso atípico (con preservación cognitiva) del Syndrome de Cockayne (una enfermedad autosómica recesiva de envejecimiento temprano). Comparado a controles, el paciente presentó (a) déficit marcados en memoria, lenguaje y funciones ejecutivas, con una relativa preservación de la cognición social; (b) un patrón de atrofia global (regiones frontales, cerebelo, ganglios basales, lóbulo temporal, y occipito-temporo-parietal) consistente con las regiones de expresión del gen ERCC8. Los resultados aportan nuevos insights sobre el envejecimiento normal y patológico.