BRIV_adv
Annals of Indian Academy of Neurology
  Users Online: 2994 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
CASE REPORT
Year : 2021  |  Volume : 24  |  Issue : 3  |  Page : 413-416

LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family


1 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
2 Department of Human Genetics, Graduate School of Public Health, University of Pittsburg, Pittsburgh, PA, USA

Correspondence Address:
Dr. Sunita Bijarnia-Mahay
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi - 110 060
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/aian.AIAN_1262_20

Rights and Permissions

Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings of diffuse bilaterally symmetrical leukodystrophy which can distinguish this disorder. It is a rare disorder with no known treatment till date, and has never been described from the Indian subcontinent. We present an Indian family with autosomal dominant adult-onset demyelinating leukodystrophy with multiple members affected over four generations, and demonstrate a cheap and accurate molecular method of real-time polymerase chain reaction to detect the LMNB1 gene duplication, which is the genetic basis of this devastating disorder.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed242    
    Printed5    
    Emailed0    
    PDF Downloaded21    
    Comments [Add]    

Recommend this journal