Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report

Genetically confirmed first Indian dentatorubral–pallidoluysian atrophy kindred: A case report

DRPLA (dentatorubral–pallidoluysian atrophy) is a neurodegenerative disorder caused by cytosine-adenine-guanine (CAG) trinucleotide repeat expansion (>48) in ATN1 gene at 12p13.31 locus inherited in an autosomal-dominant manner. The key clinical manifestations of DRPLA are ataxia, dementia, and m...

Full description

Bibliographic Details
Main Authors: Pooja Sharma, Raja G Shaikh, Uzma Shamim, Vaishakh Anand, Biswaroop Chakrabarty, Sheffali Gulati, Akhilesh K Sonakar, Istaq Ahmad, Ajay Garg, Achal K Srivastava, Mohammed Faruq
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Annals of Movement Disorders
Subjects:
cag repeats
dentatorubral–pallidoluysian atrophy
indian population
trinucleotide repeats
Online Access:http://www.aomd.in/article.asp?issn=2590-3446;year=2020;volume=3;issue=1;spage=60;epage=64;aulast=Sharma

Internet

http://www.aomd.in/article.asp?issn=2590-3446;year=2020;volume=3;issue=1;spage=60;epage=64;aulast=Sharma

Similar Items