Neurological manifestations in Wilson's disease: Report of 119 cases

Machado, A. A.; Chien, Hsin Fen; Deguti, Marta Mitiko; Cançado, Eduardo Luiz Rachid; Azevedo, Raymundo Soares; Scaff, Milberto; Barbosa, Egberto Reis

doi:10.1002/mds.21170

Cited by 256 publications

(221 citation statements)

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“…In this study, children with disease onset\8 years of age were mostly boys, which may be explained by the cultural philosophy of better care for boys. Mean age of appearance of neurological symptoms did not differ from that of hepatic symptoms (9.8 compared with 10.9 years); furthermore, onset of neurological symptoms was much earlier than that reported in the literature (Machado et al 2006). Genotype-phenotype correlation analysis was limited in this study due to diversity of the mutations detected, but it was found that frameshift and nonsense mutations (a possible predictor of severe phenotype) were found in 50% of children with age of onset \8 years compared with only 26% of patients with age of onset [10 years.…”

Section: Discussioncontrasting

confidence: 53%

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

et al. 2008

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The aim of this work was to study the mutations within ATP7B in Egyptian children with Wilson disease and to evaluate any potential correlation between genotype and phenotype in this cohort. The study consisted of 48 children with Wilson disease from 32 independent families. The 21 exons of the ATP7B gene were amplified in a thermal cycler. Direct sequencing of the amplified polymerase chain reaction (PCR) products was performed by cycle sequencing using fluorescent dye terminators in an automatic ABI sequencer. Thirty-one different mutations in 96 chromosomes were detected (19 missense, three nonsense, seven frameshift deletions, and two splice-site mutations).

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Section: Discussioncontrasting

confidence: 53%

Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

et al. 2008

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“…This line of investigation is up to nowadays one of the most traditional of the Neurologic Clinic (HC-FMUSP) and for the last 20 years, has counted with an effective participation of researchers from the Gastroenterology department [32][33][34] .…”

Section: Discussionmentioning

confidence: 99%

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

Barbosa

Machado

Cançado

et al. 2009

Arq. Neuro-Psiquiatr.

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-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.

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“…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.…”

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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.…”

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confidence: 99%