Abstract
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.
Highlights
Cockayne syndrome (CS) is a rare autosomal recessive disease that is related to defective DNA transcription or repair and cellular hypersensitivity to ultraviolet light (UV) (Laugel, 2013)
General cognitive state In the Montreal cognitive assessment (MOCA), the patient showed a significantly lower total score (t = −5.903, p = 0.0003, zcc = −6.26). He failed in executive functions (t = −4.572, p = 0.001, zcc = −4.84) as well as in delayed recall (t = −3.21, p = 0.007, zcc = −3.41)
We compared the pattern of atrophy observed in the patient to the matched controls and to ERCC8 gene expression in a healthy brain
Summary
Cockayne syndrome (CS) is a rare autosomal recessive disease that is related to defective DNA transcription or repair and cellular hypersensitivity to ultraviolet light (UV) (Laugel, 2013). All CS patients show similar symptoms, but the time of onset and the rate of progression vary among the subtypes (Laugel, 2013). This syndrome has been classified into three severity groups: classical CS/type I, severe infantile form/type II, and a milder subtype/type III (Ghai et al, 2011; Natale, 2011). In the current study we present the case of a patient with type III CS This subtype may only manifest the first symptoms after adolescence and it is characterized by cognitive impairment, progressive cerebellar symptoms, and hearing loss. Type III CS patients might have mild intellectual disability and learning difficulties in primary
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