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| Please help WikiDoc by adding more content here. It's easy! Click [[Help:How_to_Edit_a_Page|here]] to learn about editing.
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| ==Historical Perspective== | | ==Historical Perspective== |
| The name, composed of the Latin ''tuber'' (swelling) and the Greek ''skleros'' (hard), refers to the [[pathological]] finding of thick, firm and pale [[gyrus|gyri]], called "tubers", in the brains of patients [[postmortem]]. These tubers were first described by [[Désiré-Magloire Bourneville]] in 1880; the cortical manifestations may sometimes still be known by the [[eponym]] Bourneville's disease.
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| [[Image:Désiré-Magloire Bourneville.jpg|thumb|left|Désiré-Magloire Bourneville]]
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| Tuberous sclerosis first came to medical attention when dermatologists described the distinctive facial rash (1835 and 1850). A more complete case was presented by [[Friedrich Daniel von Recklinghausen|von Recklinghausen]] (1862) who identified heart and brain tumours in a newborn that had only briefly lived. However, [[Désiré-Magloire Bourneville|Bourneville]] (1880) is credited with having first characterized the disease, coining the name ''tuberous sclerosis'', thus earning the [[eponym]] Bourneville's disease. The neurologist [[Heinrich Vogt|Vogt]] (1908) established a diagnostic triad of epilepsy, idiocy, and adenoma sebaceum (an obsolete term for facial angiofibroma).<ref name="TSC-history">Curatolo (2003), chapter: "Historical Background".</ref>
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| Symptoms were periodically added to the clinical picture. The disease as presently understood was first fully described by [[Manuel Rodríguez Gómez|Gomez]] (1979). The invention of [[Medical ultrasonography|medical ultrasound]], [[computed tomography|CT]] and [[magnetic resonance imaging|MRI]] has allowed physicians to examine the internal organs of live patients and greatly improved diagnostic ability.
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| Two genetic loci associated with tuberous sclerosis, TSC1 and TSC2, were discovered in 1997 and 1992 respectively. This has enabled the use of genetic testing as a diagnostic tool.<ref name="TSC-history"/> The proteins associated with TSC1 and TSC2, harmartin and tuberin, function as a complex in the [[Mammalian target of rapamycin|mTOR]] signalling pathway that controls cell growth and cell division. The importance of this pathway in cancer therapy has stimulated further research into Tuberous Sclerosis.
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| In 2002, treatment with [[rapamycin]] was found to be effective at shrinking tumours in animals. This has led to human trials of rapamycin as a drug to treat several of the tumors associated with Tuberous Sclerosis.<ref name="Rott2005>{{cite web
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| | url = http://www.tsdev.de/92001/Uploaded/hhehn%7Cgeschichte_der_tsc2005.pdf
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| | title = Zur Geschichte der Tuberösen Sklerose (The History of Tuberous Sclerosis)
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| | accessdate = 2007-01-08
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| | author = Rott HD, Mayer K, Walther B, Wienecke R
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| | year = 2005
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| | month = 03
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| | publisher = Tuberöse Sklerose Deutschland e.V
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| | language = German
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| }}</ref>
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| ==References== | | ==References== |
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| {{Reflist|2}}
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| [[Category:Genetic disorders]] | | [[Category:Genetic disorders]] |
| [[Category:Disease]] | | [[Category:Disease]] |
| [[Category:Neurology]] | | [[Category:Neurology]] |
| [[Category:Needs overview]] | | [[Category:Needs overview]] |