{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T14:30:36Z","timestamp":1786113036300,"version":"build-2736575974"},"reference-count":5,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2026,7,28]]},"abstract":"<jats:p>The clinical presentation of juvenile-onset Huntington\u2019s disease differs from the adult-onset variant which adult neurologists are familiar. We report how we eventually arrived at this diagnosis in a patient whose clinical presentation was marked by numerous confounders and distractors for several years. Only when new clinical signs were elicited, in particular oculomotor apraxia, and a detailed timeline of events was reconstituted, was genetic testing performed to confirm the diagnosis of Huntington\u2019s disease. We reflect on several of the difficulties we experienced in securing this diagnosis.<\/jats:p>","DOI":"10.1136\/pn-2026-005321","type":"journal-article","created":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T17:20:29Z","timestamp":1785950429000},"page":"pn-2026-005321","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Juvenile-onset Huntington\u2019s disease: a challenging diagnosis"],"prefix":"10.1136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9831-1784","authenticated-orcid":false,"given":"Toni","family":"Saad","sequence":"first","affiliation":[{"name":"Neurology, Gloucestershire Royal Hospital, Gloucester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Norman","sequence":"additional","affiliation":[{"name":"St Michael\u2019s Hospital, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilary A","family":"Archer","sequence":"additional","affiliation":[{"name":"Neurology, NHS North Bristol NHS Trust, Bristol, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roswell","family":"Martin","sequence":"additional","affiliation":[{"name":"Dept of Neurology, Gloucestershire Royal Hospital, Gloucester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,8,5]]},"reference":[{"key":"2026080510201993000_pn-2026-005321v1.1","unstructured":"Department for Education . Infographics for GCSE results. 2024. Available: https:\/\/www.gov.uk\/government\/publications\/infographic-gcse-results-2024\/infographics-for-gcse-results-2024-accessible [Accessed 15 May 2026]."},{"key":"2026080510201993000_pn-2026-005321v1.2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.28823"},{"key":"2026080510201993000_pn-2026-005321v1.3","unstructured":"The neurology of eye movements. 4th edn. Oxford: Oxford University Press, 2006."},{"key":"2026080510201993000_pn-2026-005321v1.4","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1007\/s12311-025-01869-0","article-title":"Approach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes","volume":"24","author":"Salari","year":"2025","journal-title":"Cerebellum"},{"key":"2026080510201993000_pn-2026-005321v1.5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz138"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2026-005321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T17:20:30Z","timestamp":1785950430000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2026-005321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,5]]},"references-count":5,"alternative-id":["10.1136\/pn-2026-005321"],"URL":"https:\/\/doi.org\/10.1136\/pn-2026-005321","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,5]]}}}