Wilson's disease in Asia

Yue Zhang; Zi-Ying Wu
June 2011
Neurology Asia;Jun2011, Vol. 16 Issue 2, p103
Academic Journal
Wilson's disease is an autosomal recessive disorder of copper metabolism. The resultant accumulation of copper primarily damages the liver and brain, resulting in hepatic, neurological and psychiatric symptoms. There have been many recent studies advancing the understanding of Wilson's disease in Asia. There are indications that the incidence of Wilson's disease in parts of Asia may be relatively high. Many genetic studies have identified various hot spots in the ATP7B gene in a variety of the Asian populations. Screening of these hotspot mutations may thus be useful in confirming the diagnosis. Despite the advances in treatment, lack of familiarity by the health care profession resulting in late diagnosis, and poor access to treatment particularly among those from the developing economies remain areas of major concern.


Related Articles

  • Wilson�s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? Battisti, C.; Dotti, M.T.; Loudianos, G.; Dessi, V.; Battistini, S.; Amato, T.; Rufa, A.; Federico, A. // Neurological Sciences;Apr2004, Vol. 25 Issue 1, p18 

    Wilson�s disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expressed for the first time in homozygosity, is associated with neurological...

  • Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. Forbes, Nauzer; Goodwin, Susan; Woodward, Kevin; Morgan, David G.; Brady, Lauren; Coulthart, Michael B.; Tarnopolsky, Mark A. // BMC Medical Genetics;2014, Vol. 15 Issue 1, p1 

    Background Wilson's disease (WD), a rare cause of neuropsychiatric deterioration, is associated with mutations in the ATP7B gene. Prion diseases are also rare causes of neuropsychiatric deterioration that can occur sporadically without an identifiable cause, or can be attributed to mutations in...

  • Wilson Hastalığı. Hanağası, Figen; Hanağası, Haşmet A. // Turkish Journal of Neurology / Turk Noroloji Dergisi;Dec2013, Vol. 19 Issue 4, p122 

    Wilson's disease is a autosomal recessive disorder of copper metabolism. Clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Wilson's disease is caused by mutations in the ATP7B gene. ATP7B encodes a hepatic copper-transporting protein, which is important for...

  • Clinical genetics and neuropsychiatric aspects of Wilson's disease, referred to Mashhad Medical Centres, North east of Iran. Ghodsi, Kazem; Partovi, S.; Akbarzadeh, R.; Azar Pazhouh, M.R.; Sharifi, D.; Froghipoor, M.; Mokhber, N.; Ghahremani, F.; Pasdar, A.R.; Amini, M.A.; Rezaei Talab, F. // Journal of Medical Genetics;Sep2003 Supplement, Vol. 40, pS45 

    Introduction: Wilson disease (WD) is caused by mutations in the ATP7B gene, a disorder in copper metabolism. It is characterized by neuropsychiatric symptoms with frequent extrapyramidal and intellectual presentations. Materials and Method: Clinical and laboratory findings of 30 patients who...

  • A Homozygous Nonsense Mutation and a Combination of Two Mutations of the Wilson Disease Gene in Patients with Different Lysyl Oxidase Activities in Cultured Fibroblasts. Kemppainen, Ritva; Palatsi, Ritta; Kallioinen, Matti; Oikarinen, Aarne // Journal of Investigative Dermatology;Jan1997, Vol. 108 Issue 1, p35 

    Wilson disease is a rare autosomal recessive disease of copper metabolism. The gene for Wilson disease was characterized recently and has been predicted to encode a copper-transporting ATPase highly homologous to the protein encoded by the gene of Menkes disease. In this study, the genetic...

  • Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease. Zali, Narges; Mohebbi, Seyed Reza; Esteghamat, Sahar; Chiani, Mohsen; Haghighi, Mahdi Montazer; Hosseini-Asl, Seyed Mohammad-Kazem; Derakhshan, Faramarz; Mohammad-Alizadeh, Amir-Houshang; Malek-Hosseini, Seyed-Ali; Zali, Mohammad Reza // Hepatitis Monthly;2011, Vol. 11 Issue 11, p890 

    Background: Wilson disease (WD) is an autosomal recessive disorder. The WD gene, ATP7B, encodes a copper-transporting ATPase involved in the transport of copper into the plasma protein ceruloplasmin and in excretion of copper from the liver. ATP7B mutations cause copper to accumulate in the...

  • Novel ATPase Cu2+ Transporting Beta Polypeptide Mutations in Chinese Families with Wilson's Disease. Gu, Shaojuan; Yang, Huarong; Qi, Yong; Deng, Xiong; Zhang, Le; Guo, Yi; Huang, Qing; Li, Jing; Shi, Xiaoliu; Song, Zhi; Deng, Hao // PLoS ONE;Jul2013, Vol. 8 Issue 7, p1 

    Wilson's disease (WD) is an autosomal recessive inherited disorder caused by mutations in the ATPase Cu2+ transporting beta polypeptide gene (ATP7B). The detailed metabolism of copper-induced pathology in WD is still unknown. Gene mutations as well as the possible pathways involved in the ATP7B...

  • Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. Kusuda, Yoichiro; Hamaguchi, Kazuyuki; Mori, Tetsu; Shin, Rie; Seike, Masataka; Sakata, Toshiie // Journal of Human Genetics;2000, Vol. 45 Issue 2, p86 

    Abstract Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, and corneas, and culminating in copper toxication in these organs. In this study, we analyzed mutations of the responsible gene, A TP7B, in four Japanese patients...

  • Wilson Disease. El-Youssef, Mounif // Mayo Clinic Proceedings;Sep2003, Vol. 78 Issue 9, p1126 

    Discusses Wilson disease, a rare disorder of copper metabolism. Clinical manifestations of the disease; Pathophysiology; Genetic basis of the disease; Diagnosis; Treatment.


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics