Editing Wilson's disease (section)

==History==
The disease bears the name of [[United Kingdom|British]] physician [[Samuel Alexander Kinnier Wilson]] (1878–1937), a [[Neurology|neurologist]] who described the condition, including the pathological changes in the brain and liver, in 1912.<ref name=Wilson1912>{{cite journal | author=Kinnier Wilson SA | title=Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver | journal=Brain | year=1912 | volume=34 | issue=1 | pages=295–507 | doi=10.1093/brain/34.4.295 | url=https://zenodo.org/record/1431640 }}</ref> Wilson's work had been predated by, and drew on, reports from German neurologist [[Karl Friedrich Otto Westphal|Karl Westphal]] (in 1883), who termed it "pseudo-sclerosis"; by the British neurologist [[William Richard Gowers|William Gowers]] (in 1888);<ref name=Robertson/> by the Finnish neuropathologist Ernst Alexander Homén (in 1889–1892), who noted the hereditary nature of the disease;<ref name=Homén1892>{{cite journal | author=Homén EA  |title=Eine eigenthümliche bei drei Geschwistern auftretende typische Krankheit unter der Form einer progressiven Dementia in Verbindung mit ausgedehnten Gefässveränderungen (wohl Lues hereditaria tarda) |journal=Archiv für Psychiatrie und Nervenkrankheiten |volume=24|pages=1–38 |date=1892 }}</ref> and by [[Adolph Strümpell]] (in 1898), who noted hepatic cirrhosis.<ref name=Robertson>{{cite journal |author=Robertson WM |title=Wilson's disease |journal=Arch. Neurol. |volume=57 |issue=2 |pages=276–77 |date=February 2000 |pmid=10681092 |doi=10.1001/archneur.57.2.276 }}</ref> Neuropathologist John Nathaniel Cumings made the link with copper accumulation in both the liver and the brain in 1948.<ref name="pmid18124738">{{cite journal |author=Cumings JN |title=The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration |journal=Brain |volume=71 |issue=Dec |pages=410–15 |year=1948 |pmid=18124738 |doi=10.1093/brain/71.4.410 }}</ref> The occurrence of hemolysis was noted in 1967.<ref>{{cite journal |doi=10.1056/NEJM196702232760804 |vauthors=McIntyre N, Clink HM, Levi AJ, Cumings JN, Sherlock S |title=Hemolytic anemia in Wilson's disease |journal=N. Engl. J. Med. |volume=276 |issue=8 |pages=439–44 |date=February 1967 |pmid=6018274}}</ref>

In 1951, Cumings (in England), and New Zealand neurologist [[Derek Denny-Brown (doctor)|Derek Denny-Brown]] (working in the United States), simultaneously reported the first effective treatment, using the metal chelator [[dimercaprol|British anti-Lewisite]].<ref>{{cite journal |author=Cumings JN |title=The effects of B.A.L. in hepatolenticular degeneration |journal=Brain |volume=74 |issue=1 |pages=10–22 |date=March 1951 |pmid=14830662 |doi=10.1093/brain/74.1.10}}</ref><ref>{{cite journal |doi=10.1056/NEJM195112132452401 |vauthors=Denny-Brown D, Porter H |title=The effect of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease) |journal=N. Engl. J. Med. |volume=245 |issue=24 |pages=917–25 |date=December 1951 |pmid=14882450}}</ref> This treatment had to be injected, but was one of the first therapies available in the field of neurology, a field that classically was able to observe and diagnose, but had few treatments to offer.<ref name=Robertson/><ref>{{cite journal |vauthors=Vilensky JA, Robertson WM, Gilman S |title=Denny-Brown, Wilson's disease, and BAL (British antilewisite [2,3-dimercaptopropanol]) |journal=Neurology |volume=59 |issue=6 |pages=914–16 |date=September 2002 |pmid=12297577 |doi=10.1212/wnl.59.6.914}}</ref> The first oral chelation agent effective in Wilson's disease, [[penicillamine]], was discovered in 1956 by British neurologist John Walshe.<ref name=Walshe1956>{{cite journal |author=Walshe JM |title=Wilson's disease; new oral therapy |journal=Lancet |volume= 270|issue=6906 |pages=25–26 |date=January 1956 |pmid=13279157 |doi=10.1016/S0140-6736(56)91859-1}}</ref> In 1982, Walshe also introduced trientine,<ref>{{cite journal |author=Walshe JM |title=Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride |journal=Lancet |volume=1 |issue=8273 |pages=643–47 |date=March 1982 |pmid=6121964 |doi=10.1016/S0140-6736(82)92201-2|s2cid=205999334 }}</ref> and was the first to develop tetra-thiomolybdate for clinical use.<ref>{{cite journal |vauthors=Harper PL, Walshe JM |title=Reversible pancytopenia secondary to treatment with tetrathiomolybdate |journal=Br. J. Haematol. |volume=64 |issue=4 |pages=851–53 |date=December 1986 |pmid=3801328 |doi=10.1111/j.1365-2141.1986.tb02250.x|s2cid=11546705 |doi-access=free }}</ref> Zinc acetate therapy initially made its appearance in the Netherlands, where physicians Schouwink and Hoogenraad used it in 1961 and in the 1970s, respectively, and was further developed later by Brewer and colleagues at the [[University of Michigan]].<ref name=Walshe1996/><ref>{{cite journal |author=Brewer GJ |title=Recognition, diagnosis, and management of Wilson's disease |journal=Proc. Soc. Exp. Biol. Med. |volume=223 |issue=1 |pages=39–46 |date=January 2000 |pmid=10632959 |url=http://www.ebmonline.org/cgi/content/full/223/1/39 |doi=10.1046/j.1525-1373.2000.22305.x |doi-broken-date=6 February 2025 |url-status=dead |archive-url=https://web.archive.org/web/20080409223216/http://www.ebmonline.org/cgi/content/full/223/1/39 |archive-date=2008-04-09 |access-date=2008-05-20 }}</ref>

The genetic basis of Wilson's disease, and its link to ''ATP7B'' mutations, was elucidated by several research groups in the 1980s and 1990s.<ref name="pmid8298639">{{cite journal |vauthors=Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW |title=The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene |journal=Nat. Genet. |volume=5 |issue=4 |pages=327–37 |year=1993 |pmid=8298639 |doi=10.1038/ng1293-327|s2cid=1236890 }}</ref><ref name="pmid8298641">{{cite journal  |vauthors=Tanzi RE, Petrukhin K, Chernov I, etal |title=The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene |journal=Nat. Genet. |volume=5 |issue=4 |pages=344–50 |year=1993 |pmid=8298641 |doi=10.1038/ng1293-344|s2cid=610188 }}</ref>