History of Wilson's disease: 1912 to 2000

Walshe, J. M.

doi:10.1002/mds.20694

Cited by 65 publications

(50 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…He emphasized the familial character of some cases and the presence of cirrhosis of the liver, mostly asymptomatic, but claimed that the liver did not contribute to the clinical progression of the disease. Bramwell, in 1916, was the first to realize the importance of liver pathology in Wd, when he described a family in which 4 siblings died of "acute fatal cirrhosis" all between 9 and 16 years of age, and suggested that this cases might have been related to those reported by Wilson 4 years before 12 .…”

mentioning

confidence: 99%

Wilson's Disease: a case report and a historical review

Barbosa

Machado

Cançado

et al. 2009

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

-The purpose of this report is to present a short review of the history of Wilson's disease and to describe the first diagnosed case at the Neurologic Clinic of Hospital das Clínicas of São Paulo University Medical School. The topics of the historical review are the first contributions of authors along the second half of the XIX century, the seminal monograph of Samuel Alexander Kinnier Wilson (1912), the landmarks in the investigation of mechanisms of the disease and the introduction of the first effective treatment by John Walshe (1956). The first case studied in our Clinic, in 1946, was a 20 year-old male whose main neurological manifestations were postural tremor ("wing beat") and dysarthria and could be characterized as WestphalStrümpell form of the disease. Along the discussion of this case difficulties to establish the diagnosis and to treat the patient at that time are highlighted. We conclude with a brief history of the development of researches on Wilson's disease in our Clinic, with an honor to the pioneer contributions of Horacio Martins Canelas.Key WordS: Wilson's disease, historical review, copper metabolism. Doença de Wilson: relato de caso e revisão históricaResumo -Neste artigo inicialmente é feito um retrospecto dos principais marcos na história dos conhecimentos sobre a doença de Wilson, desde as primeiras descrições de casos no século XIX, passando pela magnífica monografia de Samuel Alexander Kinnier Wilson, m 1912, pelas descobertas sobre a causa da doença e chegando à era do tratamento efetivo da moléstia inaugurada por Walshe em 1956. A seguir, relata-se o primeiro caso de doença de Wilson estudado na Clínica Neurológica do HC-FMUSP. o paciente admitido na Clínica Neurológica em 1946, aos 20 anos de idade, apresentava a variante da doença em que predominavam tremor postural e disartria, conhecida como forma de Westphal-Strümpell. Na discussão, são ressaltadas as dificuldades da época para a confirmação do diagnóstico e para o tratamento; além de se realizar um breve histórico do estudo da doença na Clínica Neurológica, com o devido realce para a figura de Horácio Martins Canelas, pela sua participação pioneira nas pesquisas sobre a doença de Wilson em nosso meio.PAlAvrAS-CHAve: doença de Wilson, revisão histórica, metabolismo do cobre.

show abstract

mentioning

confidence: 99%

Wilson's Disease: a case report and a historical review

Barbosa

Machado

Cançado

et al. 2009

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…Wilson's disease (WD) is a rare autosomal recessive metabolic disease resulting from mutations in the ATP7B gene, which has been mapped to chromosome 13q14 1,2 . The ATP7B gene encodes a copper-transporting adenosine triphosphatase (ATPase) protein, which is expressed most abundantly in the liver and is responsible for biliary copper excretion.…”

mentioning

confidence: 99%

“…The ATP7B gene encodes a copper-transporting adenosine triphosphatase (ATPase) protein, which is expressed most abundantly in the liver and is responsible for biliary copper excretion. Because of defects in this gene, copper accumulates in several organs, especially the liver, brain (basal ganglia) and corneas 1,2 . Clinically, patients present with predominantly hepatic, psychiatric and neurological symptoms, particularly dystonia, tremor and parkinsonism.…”

mentioning

confidence: 99%

“…Clinically, patients present with predominantly hepatic, psychiatric and neurological symptoms, particularly dystonia, tremor and parkinsonism. The Kayser-Fleischer ring is an important physical sign, and the most important laboratory tests are serum ceruloplasmin and urine copper levels 1,2 . The worldwide prevalence of WD is 1:30,000 and more than 400 distinct disease-causing mutations in the ATP7B gene associated with WD have been identified 1,2 .…”

mentioning

confidence: 99%

“…The Kayser-Fleischer ring is an important physical sign, and the most important laboratory tests are serum ceruloplasmin and urine copper levels 1,2 . The worldwide prevalence of WD is 1:30,000 and more than 400 distinct disease-causing mutations in the ATP7B gene associated with WD have been identified 1,2 . Treatment options for WD patients include copper chelating agents such as penicillamine, trientine, ammonium tetrathiomolybdate and zinc salts 1,3 .…”

mentioning

confidence: 99%

See 2 more Smart Citations