History of Wilson Disease

Abstract This chapter reviews the key developments in the 20th century that led to the recognition of Wilson disease as an inherited, but treatable, copper storage disorder affecting the liver, brain, and other organs. In the 1950s–1980s, the development of oral drugs that can reduce the copper load transformed the prognosis of Wilson disease. The identification in the 1990s of the ATP7B gene, which is mutated in Wilson disease, offers the potential that gene therapy will one day provide a cure for Wilson disease.

• Publication year

  2019

• Venue

  Wilson Disease

• Publication date

  Unknown publication date

• Fields of study

  Medicine, History

• Identifiers
  DOI 10.1016/B978-0-12-811077-5.00001-3
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• A History of Wilson Disease

  2019cited by this paper
• Wilson's disease: the 60th anniversary of Walshe's article on treatment with penicillamine.

  2017cited by this paper
• History of Wilson disease: a personal account.

  2017cited by this paper
• Bis-choline tetrathiomolybdate in patients with Wilson's disease: an open-label, multicentre, phase 2 study.

  2017cited by this paper
• The copper rush of the nineties.

  2016cited by this paper
• Long-term metabolic correction of Wilson's disease in a murine model by gene therapy.

  2016cited by this paper
• Copper trafficking to the secretory pathway.

  2016cited by this paper
• Treatment of Wilson’s disease – another point of view

  2015cited by this paper
• Formation constants of copper(I) complexes with cysteine, penicillamine and glutathione: implications for copper speciation in the human eye.

  2015cited by this paper
• Copper is an endogenous modulator of neural circuit spontaneous activity

  2014cited by this paper
• A century for progress in the diagnosis of Wilson disease.

  2014cited by this paper
• The Treatment of Wilson's Disease, a Rare Genetic Disorder of Copper Metabolism

  2013cited by this paper
• Wilson's disease, 100 years later….

  2013cited by this paper
• The Link between Copper and Wilson's Disease

  2013cited by this paper
• Samuel Alexander Kinnier Wilson. Wilson's disease, Queen Square and neurology.

  2013cited by this paper
• EASL Clinical Practice Guidelines: Wilson's disease.

  2012cited by this paper
• A film of patients with movement disorders made in Queen Square, London in the Mid‐1920s by Samuel Alexander Kinnier Wilson

  2011cited by this paper
• Tetrathiomolybdate Inhibits Copper Trafficking Proteins Through Metal Cluster Formation

  2010cited by this paper
• Wilson-Krankheit und Westphal-Strümpell-Pseudosklerose

  2010cited by this paper
• Tracing copper-thiomolybdate complexes in a prospective treatment for Wilson's disease.

  2009cited by this paper
• Zinc and tetrathiomolybdate for the treatment of Wilson's disease and the potential efficacy of anticopper therapy in a wide variety of diseases.

  2009cited by this paper
• Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver, by S. A. Kinnier Wilson, (From the National Hospital, and the Laboratory of the National Hospital, Queen Square, London) Brain 1912: 34; 295-509.

  2009cited by this paper
• Treatment of Wilson's disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine.

  2009cited by this paper
• The conquest of Wilson's disease.

  2009cited by this paper
• Function and regulation of human copper-transporting ATPases.

  2007cited by this paper
• Reversible precipitation of bovine serum albumin by metal ions and synthesis, structure and reactivity of new tetrathiometallate chelating agents.

  2007cited by this paper
• Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.

  2006cited by this paper
• History of Wilson's disease: 1912 to 2000

  2006cited by this paper
• The Purification of Triethylenetetramine and Its Dihydrochloride for the Treatment of Wilson's Disease

  2005cited by this paper
• The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.

  2004cited by this paper
• Tetrathiomolybdate causes formation of hepatic copper-molybdenum clusters in an animal model of Wilson's disease.

  2003cited by this paper
• Commentary: Landmark Articles on Copper in the Field of Human Health

  2001cited by this paper
• Raulin award lecture: Wilson's disease therapy with zinc and tetrathiomolybdate

  2000cited by this paper
• Thiomolybdates — Simple but Very Versatile Reagents

  2000cited by this paper
• Complexation of copper(I) by thioamino acids. Implications for copper speciation in blood plasma.

  1997cited by this paper
• Treatment of Wilson's disease: the historical background.

  1996cited by this paper
• Treatment of Wilson's disease with ammonium tetrathiomolybdate. I. Initial therapy in 17 neurologically affected patients.

  1994cited by this paper
• The man behind the syndrome: S.A. Kinnier Wilson.

  1993cited by this paper
• Cloning the Wilson disease gene

  1993cited by this paper
• Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.

  1993cited by this paper
• The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

  1993cited by this paper
• The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

  1993cited by this paper
• Treatment of Wilson's disease with zinc: X. Intestinal metallothionein induction.

  1992cited by this paper
• Wilson's Disease.

  1991cited by this paper
• Spontaneous hepatic copper accumulation in Long-Evans Cinnamon rats with hereditary hepatitis. A model of Wilson's disease.

  1991cited by this paper
• Initial therapy of patients with Wilson's disease with tetrathiomolybdate.

  1991cited by this paper
• Close linkage of the Wilsons's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14

  1990cited by this paper
• Remembering Kinnier Wilson.

  1988cited by this paper
• Wilson's disease: Yesterday, today, and tomorrow

  1988cited by this paper
• Management of Wilson's disease with zinc sulphate. Experience in a series of 27 patients.

  1987cited by this paper
• Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

  1985cited by this paper
• Unithiol in Wilson's disease.

  1985cited by this paper
• Copper: Its Role in the Pathogenesis of Liver Disease

  1984cited by this paper
• Toxic milk, a new mutation affecting cooper metabolism in the mouse.

  1983cited by this paper
• Oral zinc therapy for Wilson's disease.

  1983cited by this paper
• Biliary excretion of copper in Wilson's disease.

  1980cited by this paper
• The formation and nature of the mixed valence copper-D-penicillamine-chloride cluster in aqueous solution and its relevance to the treatment of Wilson's disease.

  1979cited by this paper
• Intestinal metallothionein and the mutual antagonism between copper and zinc in the rat.

  1979cited by this paper
• Hypocupremia induced by zinc therapy in adults.

  1978cited by this paper
• Structure, properties, and function of a copper(I)-copper(II) complex of D-penicillamine: pentathallium(I) mu8-chloro-dodeca (D-penicillaminato)-octacuprate(I)hexacuprate(II) n-hydrate.

  1977cited by this paper
• Potentiometric and spectroscopic study of the equilibria in the aqueous copper(II)–3,6-diazaoctane-1,8-diamine system and an equilibrium-di-alysis examination of the ternary system of human serum albumin–copper(II)–3,6-diazaoctane-1,8-diamine

  1977cited by this paper
• The eye in Wilson disease.

  1976cited by this paper
• Thiomolybdates and the copper–molybdenum–sulphur interaction in ruminant nutrition

  1975cited by this paper
• Defective biliary excretion of copper in Wilson's disease

  1974cited by this paper
• Recent studies of the copper-molybdenum antagonism

  1974cited by this paper
• Copper chelation in patients with Wilson's disease. A comparison of penicillamine and triethylene tetramine dihydrochloride.

  1973cited by this paper
• Preparation of triethylenetetramine dihydrochloride for the treatment of Wilson's disease.

  1972cited by this paper
• Orthotopic liver transplantation for Wilson's disease.

  1971cited by this paper
• Management of penicillamine nephropathy in Wilson's disease: a new chelating agent.

  1969cited by this paper
• Prevention of Wilson's disease in asymptomatic patients.

  1968cited by this paper
• [Wilson's disease or hepatolenticular degeneration].

  1968cited by this paper
• From the Archives

  1967cited by this paper
• Wilson's Disease

  1962cited by this paper
• A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration)

  1959cited by this paper
• Hepatolenticular degeneration (Wilson's disease) as a form of idiopathic cirrhosis.

  1957cited by this paper
• Wilson's disease; new oral therapy.

  1956cited by this paper
• Penicillamine, a new oral therapy for Wilson's disease.

  1956cited by this paper
• Studies on copper metabolism. XIII. Hepatolenticular degeneration.

  1954cited by this paper
• Studies on the assimilation and storage of copper in crossbred sheep.

  1954cited by this paper
• Genetic and biochemical aspects of Wilson's disease.

  1953cited by this paper
• Liver dysfunction in hepatolenticular degeneration; a review of eleven cases.

  1953cited by this paper
• Disturbances of aminoacid metabolism following liver injury; a study by means of paper chromatography.

  1953cited by this paper
• Influence of Inorganic Sulphate on the Copper–Molybdenum Interrelationship in Sheep

  1953cited by this paper
• Deficiency of ceruloplasmin in patients with hepatolenticular degeneration (Wilson's disease).

  1952cited by this paper
• Inorganic Complex Compounds Containing Polydentate Groups. V. Formation Constants of the Triethylenetetramine–Copper(II) and Nickel(II) Complex Ions.

  1951cited by this paper
• The effects of B.A.L. in hepatolenticular degeneration.

  1951cited by this paper
• The effect of BAL (2,3-dimercaptopropanol) on hepatolenticular degeneration (Wilson's disease).

  1951cited by this paper
• Investigations in Serum Copper. III. Coeruloplasmin as an Enzyme.

  1951cited by this paper
• Inhibition of the growth of the rat by L-penicillamine and its prevention by aminoethanol and related compounds.

  1950cited by this paper
• Reactions of British anti-lewisite with arsenic and other metals in living systems.

  1949cited by this paper
• The copper and iron content of brain and liver in the normal and in hepato-lenticular degeneration.

  1948cited by this paper
• Studies on copper metabolism in demyelinating diseases of the central nervous system.

  1948cited by this paper
• AMINO-ACIDURIA IN HEPATO-LENTICULAR DEGENERATION (WILSON'S DISEASE)

  1948cited by this paper
• Observations on the Administration of BAL-Intrav to Man

  1946cited by this paper
• British Anti-Lewisite (BAL)

  1945cited by this paper
• Kayser-Fleischer Ring in Cornea in Two Cases of Wilson's Disease (Progressive Lenticular Degeneration)

  1934cited by this paper
• HEPATO-LENTICULAR DEGENERATION; A FINAL NOTE

  1929cited by this paper
• A FURTHER NOTE ON HEPATO-LENTICULAR DEGENERATION

  1926cited by this paper
• HEPATO-LENTICULAR DEGENERATION

  1925cited by this paper
• Die histopathologische Zusammengehörigkeit der Wilsonschen Krankheit und der Pseudosklerose

  1920cited by this paper

• No citing papers are available for this paper.