Wilson's disease historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]


Wilson's disease was first described by Dr. Samuel Alexander Kinnier Wilson where he described the pathological changes in the brain and liver in 1912. Many research studies revealed the correlation between ATP7B gene mutation and Wilson's disease. The first effective oral chelator was discovered by Dr. Walshe in 1956.

Historical perspective


  • In 1912, the neurologist Dr. Samuel Alexander Kinnier Wilson was the first to describe Wilson's disease. Dr. Wilson described the pathological changes in the brain and liver.[1]
  • In 1902, Dr. Kayser described the corneal rings which was abnormal pigmentation of the eye which was named after that Kayser-Fleisher rings. Dr. Wilson did not correlate between the disease and the pigmented corneal rings at the time he discovered the disease.[2]
  • In 1948, Dr. John N. Cumings described the correlation between the copper accumulation and the pathological changes that occur in the liver and the brain.[3]
  • From 1980s to 1990s, many research studies proved the linkage between the mutation of ATP7B gene and Wilson's disease.[4][5]

Landmark Events in the Development of Treatment Strategies

  • In 1951, Dr. Cumings and Dr. Denny-Brown reported the first effective treatment against Wilson's disease by the copper chelators.[6]
  • In 1956, Dr. Walshe discovered penicillamine which was the first effective oral chelator back then.[7]
  • In 1961, Dr. Schouwink and Dr. Hoogenraad used Zinc acetate as a medical therapy in treatment of Wilson's disease.
  • In 1982, Dr. Walshe also described trientine as an effective chelator also for the copper.[8]


  1. Kinnier Wilson SA (1912). "Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver" (PDF). Brain. 34 (1): 295–507. doi:10.1093/brain/34.4.295.
  2. Lorincz MT (2010). "Neurologic Wilson's disease". Ann N Y Acad Sci. 1184: 173–87. doi:10.1111/j.1749-6632.2009.05109.x. PMID 20146697.
  3. Cumings JN (1948). "The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration" (PDF). Brain. 71 (Dec): 410–5. doi:10.1093/brain/71.4.410. PMID 18124738.
  4. Tanzi RE, Petrukhin K, Chernov I; et al. (1993). "The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene". Nat. Genet. 5 (4): 344–50. doi:10.1038/ng1293-344. PMID 8298641.
  5. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW (1993). "The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene". Nat. Genet. 5 (4): 327–37. doi:10.1038/ng1293-327. PMID 8298639.
  6. Cumings JN (1951). "The effects of B.A.L. in hepatolenticular degeneration". Brain. 74 (1): 10–22. doi:10.1093/brain/74.1.10. PMID 14830662. Unknown parameter |month= ignored (help)
  7. Walshe JM (1956). "Wilson's disease; new oral therapy". Lancet. 267 (6906): 25–6. doi:10.1016/S0140-6736(56)91859-1. PMID 13279157. Unknown parameter |month= ignored (help)
  8. Walshe JM (1982). "Treatment of Wilson's disease with trientine (triethylene tetramine) dihydrochloride". Lancet. 1 (8273): 643–7. doi:10.1016/S0140-6736(82)92201-2. PMID 6121964. Unknown parameter |month= ignored (help)

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