{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:54:20Z","timestamp":1757613260372,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2024,6,27]]},"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:p>A 34-year-old woman presented with insidious onset and gradually progressive cerebellar ataxia over 10 years, with generalised convulsions. On examination, there were myoclonic jerks, choreiform movements and cerebellar syndrome. Her family history suggested an autosomal dominant inheritance with anticipation. Genetic analysis for trinucleotide repeat disorders led to a diagnosis of dentatorubral-pallidoluysian atrophy (60 CAG repeats in the atrophin-1 gene). This rare spinocerebellar ataxia should be considered in the differential diagnosis of inherited ataxia when combined with seizures and chorea. Other features suggesting a repeat expansion disorder are variable phenotypes within the same family and possible anticipation.<\/jats:p>","DOI":"10.1136\/pn-2024-004213","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T13:23:50Z","timestamp":1720531430000},"page":"63-65","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Dentatorubral-pallidoluysian atrophy: a rare cause of epilepsy, ataxia and chorea"],"prefix":"10.1136","volume":"25","author":[{"given":"Karthik","family":"Harisankar","sequence":"first","affiliation":[{"name":"Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jagdeep","family":"Singh","sequence":"additional","affiliation":[{"name":"Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5915-8334","authenticated-orcid":false,"given":"Sahil","family":"Mehta","sequence":"additional","affiliation":[{"name":"Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vivek","family":"Lal","sequence":"additional","affiliation":[{"name":"Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,7,9]]},"reference":[{"key":"2025090411064639000_25.1.63.1","doi-asserted-by":"crossref","DOI":"10.5334\/tohm.439","article-title":"Dentatorubral-pallidoluysian atrophy: an update","volume":"8","author":"Carroll","year":"2018","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"key":"2025090411064639000_25.1.63.2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29355"},{"key":"2025090411064639000_25.1.63.3","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1093\/brain\/69.4.251","article-title":"Heredo-degenerative Hemiballismus; a contribution to the question of primary atrophy of the corpus Luysii","volume":"69","author":"TITICA","year":"1946","journal-title":"Brain (Bacau)"},{"key":"2025090411064639000_25.1.63.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0194-14"},{"key":"2025090411064639000_25.1.63.5","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1007\/s12311-017-0862-9","article-title":"Dentatorubro-pallidoluysian atrophy (DRPLA) among 700 families with ataxia in Brazil","volume":"16","author":"Braga-Neto","year":"2017","journal-title":"Cerebellum"},{"key":"2025090411064639000_25.1.63.6","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1212\/WNL.49.6.1605","article-title":"Atrophy of the cerebellum and brainstem in dentatorubral pallidoluysian atrophy","volume":"49","author":"Koide","year":"1997","journal-title":"Neurology (ECronicon)"},{"key":"2025090411064639000_25.1.63.7","doi-asserted-by":"crossref","first-page":"S42","DOI":"10.1046\/j.1440-1789.2000.00307.x","article-title":"Hereditary dentatorubral-pallidoluysian atrophy","volume":"20 Suppl","author":"Oyanagi","year":"2000","journal-title":"Neuropathology"},{"key":"2025090411064639000_25.1.63.8","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1002\/mdc3.12179","article-title":"Eye of the Tiger sign and very late onset in dentatorubral-pallidoluysian atrophy","volume":"2","author":"Morgado","year":"2015","journal-title":"Mov Disord Clin Pract"},{"key":"2025090411064639000_25.1.63.9","doi-asserted-by":"crossref","unstructured":"Bavdhankar K , Jain N , Thakkar M , et al . Lurching and swaying: an Indian case of dentatorubral-pallidoluysian atrophy. Mov Disord Clin Pract 2024. doi:10.1002\/mdc3.14022","DOI":"10.1002\/mdc3.14022"},{"key":"2025090411064639000_25.1.63.10","doi-asserted-by":"crossref","DOI":"10.1186\/s12883-015-0520-0","article-title":"Case report of optic atrophy in dentatorubropallidoluysian atrophy (DRPLA)","volume":"15","author":"Silver","year":"2015","journal-title":"BMC Neurol"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2024-004213","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T18:18:27Z","timestamp":1757009907000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2024-004213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,9]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,16]]},"published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1136\/pn-2024-004213"],"URL":"https:\/\/doi.org\/10.1136\/pn-2024-004213","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2024,7,9]]}}}