|
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.〔Bender M, Potocki L, Metry D. What syndrome is this? Cockayne syndrome. Pediatric Dermatology (online ). November 2003;20(6):538-540. Available from: MEDLINE with Full Text, Ipswich, MA. Accessed April 30, 2015.〕 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, which are conditions characterized by degradation of neurological white matter. The underlying disorder is a defect in a DNA repair mechanism. Unlike other defects of DNA repair, patients with CS are not predisposed to cancer or infection.〔Nance M, Berry S. Cockayne syndrome: review of 140 cases. American Journal Of Medical Genetics (online ). January 1, 1992;42(1):68-84. Available from: MEDLINE with Full Text, Ipswich, MA. Accessed April 30, 2015.〕 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.〔Neill CA, Dingwall MM. A Syndrome Resembling Progeria: A Review of Two Cases. Archives of Disease in Childhood. 1950;25(123):213-223.〕 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 asserted it was the same disease described by 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.〔 == Forms== * CS Type I, the "classic" form, is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Vision and hearing gradually decline.〔Cockayne Syndrome. Genetics Home Reference http://ghr.nlm.nih.gov/condition/cockayne-syndrome Published April 28, 2015. Reviewed May 2010. Accessed April 30, 2015.〕 The central and peripheral nervous systems progressively degenerate until death in the first or second decade of life as a result of serious neurological degradation. Cortical atrophy is less severe in CS Type I.〔Javadzadeh M. Cockayne Syndrome. Iran J Child Neurol. Autumn 2014;8;4(Suppl.1):18-19.〕 * CS Type II is present from birth (congenital) and is much more severe than CS Type 1.〔 It involves very little neurological development after birth. Death usually occurs by age seven. This specific type has also been designated as cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome Type II.〔 COFS syndrome is named so due to the effects it has on the brain, eyes, face, and skeletal system, as the disease frequently causes brain atrophy, cataracts, loss of fat in the face, and osteoporosis. COFS syndrome can be further subdivided into several conditions (COFS types 1, 2, 3 (associated with xeroderma pigmentosum) and 4).〔Cerebrooculofacioskeletal Syndrome 2. Online Mendelian Inheritance in Man. https://omim.org/entry/610756. Published 2/12/2007.〕 Typically patients with this early-onset form of the disorder show more severe brain damage, including reduced myelination of white matter, and more widespread calcifications, including in the cortex and basal ganglia.〔 * CS Type III, characterized by late onset, is typically milder than Types I and II.〔 Often patients with Type III will live into adulthood. * Xeroderma pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also suffers from xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed. For instance, freckling and pigment abnormalities characteristic of XP are present. The neurological disorder, spasticity, and underdevelopment of sexual organs characteristic of CS are seen. However, hypomyelination and the facial features of typical CS patients are not present.〔Laugel V. Cockayne Syndrome. 2000 Dec 28 (2012 Jun 14 ). In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® (). Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: ()〕 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Cockayne syndrome」の詳細全文を読む スポンサード リンク
|