DBpedia – Linked Data Fragments

Matches in DBpedia 2015-10 for { ?s ?p "Cockayne syndrome (CS) (also called Neill-Dingwall syndrome) is a rare autosomal recessive, neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies (conditions characterized by degradation of white matter). The underlying disorder is a defect in a DNA repair mechanism. Interestingly, unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne Syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. The mutation of specific genes in Cockayne Syndrome is known, but the widespread effects and its relationship with DNA repair is yet to be well understood.It is named after English physician Edward Alfred Cockayne (1880–1956) who first described it in 1936 and re-described in 1946 in a paper entitled “Dwarfism with Retinal Atrophy and Deafness”. Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill. These women described the case of two brothers with Cockayne syndrome and assert it is the same disease described by Edward Alfred Cockayne. In their article the women contributed to the symptoms of the disease through their discovery of calcifications in the brain. They also compared Cockayne Syndrome to what is now known as Hutchinson-Gilford Progeria Syndrome (HGPS), then called progeria, due to the advanced aging that characterizes both disorders."@en }

• Cockayne_syndrome abstract "Cockayne syndrome (CS) (also called Neill-Dingwall syndrome) is a rare autosomal recessive, neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies (conditions characterized by degradation of white matter). The underlying disorder is a defect in a DNA repair mechanism. Interestingly, unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection. Cockayne Syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. The mutation of specific genes in Cockayne Syndrome is known, but the widespread effects and its relationship with DNA repair is yet to be well understood.It is named after English physician Edward Alfred Cockayne (1880–1956) who first described it in 1936 and re-described in 1946 in a paper entitled “Dwarfism with Retinal Atrophy and Deafness”. Neill-Dingwall syndrome was named after Mary M. Dingwall and Catherine A. Neill. These women described the case of two brothers with Cockayne syndrome and assert it is the same disease described by Edward Alfred Cockayne. In their article the women contributed to the symptoms of the disease through their discovery of calcifications in the brain. They also compared Cockayne Syndrome to what is now known as Hutchinson-Gilford Progeria Syndrome (HGPS), then called progeria, due to the advanced aging that characterizes both disorders.".