Different neurological outcome of liver transplantation for Wilson's disease in two homozygotic twins

Senzolo, Marco; Loreno, Massimiliano; Fagiuoli, Stefano; Zanus, Giacomo; Canova, Daniele; Masier, A; Russo, Francesco Paolo; Sturniolo, Giacomo Carlo; Burra, Patrizia

doi:10.1016/j.clineuro.2006.01.008

Cited by 44 publications

(23 citation statements)

References 25 publications

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“…The course of neurological symptoms after LT in WD patients has been widely investigated. Several authors have reported a worse outcome for patients with the mixed phenotype . However, the burden placed on the post‐LT outcome by neurological involvement is often difficult to analyze due to protean pretransplant condition (ALF versus ESLD with neuropsychiatric symptoms).…”

Section: Discussionmentioning

confidence: 99%

Outcomes of Liver Transplant for Adults With Wilson’s Disease

et al. 2020

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Wilson’s disease (WD) is a rare genetic disorder with protean manifestations. Even if liver transplantation (LT) could represent an effective therapeutic option for patients with end‐stage liver disease, it has remained controversial in the presence of neuropsychiatric involvement. This study aimed to examine the frequency of adult LT for WD in Italy, focusing on the disease phenotype at the time of LT. A retrospective, observational, multicenter study was conducted across Italy exploring the frequency and characteristics of adults transplanted for WD between 2006 and 2016. A total of 29 adult WD patients underwent LT during the study period at 11 Italian LT centers (accounting for 0.4% of all LTs performed), and 27 of them were considered in this analysis (male/female, n = 9/18; age at LT, 29 years [19‐60 years]; median Model for End‐Stage Liver Disease score at LT, 27 [6‐49]). Isolated hepatic phenotype was the indication for LT in 17 (63%) patients, whereas 2 (7%) patients underwent LT for neurological impairment on compensated liver disease. Overall 1‐ and 5‐year patient survival was excellent (88% and 83%, respectively). Neuropsychiatric symptoms early after LT completely recovered in only a few patients. In conclusion, WD remains an uncommon, unusual indication for LT in Italy, displaying good post‐LT graft and patient survival. Because isolated neuropsychiatric involvement represents a rare indication to LT, more data are needed to properly assess the value of LT for WD in this subset of patients.

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Section: Discussionmentioning

confidence: 99%

Outcomes of Liver Transplant for Adults With Wilson’s Disease

et al. 2020

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“…It has been suggested that the clinical outcome depends on the type of mutation (8,11,48). Individuals with identical mutations, including twins (65) and also between family members, can have vastly different clinical phenotypes (66,67), which suggests that other factors are involved in determining the clinical outcome of Menkes and Wilson diseases. Such factors may include allelic dominance, copper levels, the environment, and other interacting proteins that may serve to modify the phenotypes (68).…”

Section: Discussionmentioning

confidence: 99%

Clusterin and COMMD1 Independently Regulate Degradation of the Mammalian Copper ATPases ATP7A and ATP7B

Materia

Cater

Klomp³

et al. 2012

Journal of Biological Chemistry

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Background: Clusterin and COMMD1 interact to down-regulate copper transporters ATP7A and ATP7B. Results: Clusterin and COMMD1 act independently and under different conditions to target ATP7B degradation via different pathways. Conclusion: Clusterin and COMMD1 regulate the quality control of ATP7A/ATP7B and directly impact copper homeostasis. Significance: Clusterin and COMMD1 allelic variations may influence the clinical expression of Menkes and Wilson diseases.

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“…A wide variety of mutations in ATP7B have been described (http://www.wilsondisease.med.ualberta.ca/database.asp) and most patients are compound heterozygotes (Kenney and Cox 2007). There is a lack of correlation between the genotype and the phenotype, and individuals carrying the same mutation can show distinct clinical signs, which poses major difficulties for diagnosing the disease (Riordan and Williams 2001; Senzolo et al 2007). Other genes or environmental influences are thought to modify clinical expression of the disease but have not yet been identified (de Bie et al 2007a).…”

Section: Introductionmentioning

confidence: 99%

Canine models of copper toxicosis for understanding mammalian copper metabolism

Fieten

Leegwater

Watson³

et al. 2011

Mamm Genome

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Hereditary forms of copper toxicosis exist in man and dogs. In man, Wilson’s disease is the best studied disorder of copper overload, resulting from mutations in the gene coding for the copper transporter ATP7B. Forms of copper toxicosis for which no causal gene is known yet are recognized as well, often in young children. Although advances have been made in unraveling the genetic background of disorders of copper metabolism in man, many questions regarding disease mechanisms and copper homeostasis remain unanswered. Genetic studies in the Bedlington terrier, a dog breed affected with copper toxicosis, identified COMMD1, a gene that was previously unknown to be involved in copper metabolism. Besides the Bedlington terrier, a number of other dog breeds suffer from hereditary copper toxicosis and show similar phenotypes to humans with copper storage disorders. Unlike the heterogeneity of most human populations, the genetic structure within a purebred dog population is homogeneous, which is advantageous for unraveling the molecular genetics of complex diseases. This article reviews the work that has been done on the Bedlington terrier, summarizes what was learned from studies into COMMD1 function, describes hereditary copper toxicosis phenotypes in other dog breeds, and discusses the opportunities for genome-wide association studies on copper toxicosis in the dog to contribute to the understanding of mammalian copper metabolism and copper metabolism disorders in man.

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Different neurological outcome of liver transplantation for Wilson's disease in two homozygotic twins

Cited by 44 publications

References 25 publications

Outcomes of Liver Transplant for Adults With Wilson’s Disease

Outcomes of Liver Transplant for Adults With Wilson’s Disease

Clusterin and COMMD1 Independently Regulate Degradation of the Mammalian Copper ATPases ATP7A and ATP7B

Canine models of copper toxicosis for understanding mammalian copper metabolism

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