Year: 2024
Type: article
Study design: Case Report
Abstract: Dentatorubral-pallidoluysian atrophy (DRPLA) is a degenerative chorea-ataxia syndrome due to trinucleotide repeat expansions and was first described in 1946 as "heredo-degenerative hemiballismus" 1 and later as "combined dentato-rubral pallido-luysian degeneration." 2 The term "hereditary DRPLA" was coined by Naito and Oyanagi in 1982.3 The vast majority of DRPLA cases in the world are reported from Japan and it is rare in non-Japanese populations.We report a genetically proven case of DRPLA from India, presenting as progressive chorea, ataxia and dementia, with a negative family history.
DOI: 10.1002/mdc3.14022
Language: English
Subfield: Cellular and Molecular Neuroscience
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4392913243