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Related Experiment Video

Updated: Sep 28, 2025

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders
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Wilson's Disease Update: An Indian Perspective.

Kalyan Bhattacharya1, Bindu Thankappan2

  • 1Department of Neurology, Medical Super Speciality Hospital, Kolkata, West Bengal, India.

Annals of Indian Academy of Neurology
|March 28, 2022
PubMed
Summary

Wilson

Area of Science:

  • Genetics and Metabolism
  • Neurology
  • Hepatology

Background:

  • Wilson's disease (WD) is an inherited disorder of copper metabolism caused by ATP7B gene mutations.
  • Early diagnosis and treatment are crucial for recovery, with significant research contributions from India.
  • WD primarily affects the liver and brain, presenting a treatable yet complex clinical picture.

Purpose of the Study:

  • To review and synthesize published Indian studies on Wilson's disease.
  • To provide perspective on WD prevalence, clinical manifestations, and management in the Indian context.
  • To highlight diagnostic challenges and therapeutic outcomes in Indian WD patients.

Main Methods:

  • Systematic collation of Indian WD studies from PubMed and Embase databases.
Keywords:
D-PenicillamineKayser-Fleischer ringWilson's diseaseserum ceruloplasminurinary copper

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  • Analysis of reported clinical presentations, genetic mutations, diagnostic delays, and treatment responses.
  • Review of epidemiological data, including prevalence, sex distribution, and family history.

    • Main Results:

    • Wilson's disease may be more prevalent in India than previously thought, with p.C271X being a common ATP7B mutation.
    • Hepatic and neuropsychiatric manifestations are common, with a male predominance observed.
    • A significant diagnostic delay (up to 2 years) and misdiagnosis rate (two-thirds) are noted, with hepatic WD carrying a higher mortality risk.

    Conclusions:

    • Wilson's disease is a significant health concern in India, requiring improved diagnostic strategies and awareness.
    • Copper chelation therapy, particularly D-penicillamine, is effective, with high recovery rates for neurological cases.
    • Understanding the unique epidemiological and clinical profile of WD in India is vital for optimizing patient outcomes.