BRIV_adv
Annals of Indian Academy of Neurology
  Users Online: 2255 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
 
AIAN REVIEW
Ahead of Print

Wilson's disease update: An Indian perspective


1 Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
2 Center for Parkinson's Disease and Movement Disorders, Vikram Hospital, Bengaluru, Karnataka, India
3 Department of Neurology, Medanta Hospital, Gurugram, Haryana, India

Correspondence Address:
Niraj Kumar,
Additional Professor, Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_171_21

Wilson's disease (WD) is an autosomal recessive disorder due to ATP7B gene mutation, resulting in defective copper metabolism, with the liver and brain being primarily affected. WD being a treatable disorder, early diagnosis and proper management may result in near complete recovery. It has received significant attention over the past 50 years, with several Indian contributions. This study collates published Indian studies on WD in Pubmed and Embase databases and puts them in perspective. Several Indian case series suggest WD may be more prevalent than thought. Commonly detected ATP7B mutation in India is p.C271X. Although initial Indian series reported significant osseomuscular presentation, neuropsychiatric and hepatic manifestations dominated the later reports. A significant male predominance is observed in the Indian series. Pure hepatic presentation starts earlier than neurological or osseomuscular WD. A positive family history may be seen in nearly 50% of Indian WD cases, with a high rate of consanguinity. Up to two-third of the Indian cases may be initially misdiagnosed, with a mean diagnostic delay of up to 2 years. Abnormalities in serum ceruloplasmin and 24-hour urinary copper has been reported in more than four-fifth cases. Brain MRI is abnormal in nearly all neurological WD cases. Copper chelation remains the mainstay of therapy, with D-penicillamine being the most widely used chelator in India. Global Assessment Scale for WD is a comprehensive tool for clinical monitoring. Hepatic presentation carries a five-time higher mortality risk than neurological, with up to 90% Indian neurological WD cases recovering back to pre-morbid functionality with adequate therapy.


Print this article
 [NEXT]
 [PREV]
 Table of Contents

  Search Pubmed for
 
    -  Kumar N
    -  Prashant L K
    -  Goyal V
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed133    
    PDF Downloaded22    

Recommend this journal