Back close

Genetically Confirmed First Indian Dentatorubral–Pallidoluysian Atrophy Kindred: A Case Report

Publication Type : Journal Article

Publisher : Annals of Movement Disorders

Source : Annals of Movement Disorders, 2020;3:60-4. DOI: 10.4103/AOMD.AOMD_38_19

Url :

Campus : Kochi

School : School of Medicine

Year : 2020

Abstract : 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 myoclonic epilepsy and have variable association with intellectual disability, behavioral changes, epileptic seizures, and choreoathetosis. It is most commonly reported in Japanese population with a prevalence of 0.2–0.7/100,000. Here we report a three-generation first Indian family identified to carry a pathogenic CAG expansion in ATN1 and clinical features conformed to its key manifestations.

Cite this Research Publication : Sharma P, Shaikh RG, Shamim U, Anand V, Chakrabarty B, Gulati S, Sonakar AK, Ahmad I, Garg A, Srivastava AK, Faruq M. "Genetically confirmed first Indian dentatorubral-pallidoluysian atrophy kindred: A case report". Annals of Movement Disorders, 2020;3:60-4. DOI: 10.4103/AOMD.AOMD_38_19

Admissions Apply Now