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 : https://journals.lww.com/aomd/fulltext/2020/03010/genetically_confirmed_first_indian.10.aspx
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