{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T00:06:48Z","timestamp":1755907608476,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,8,6]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>Spinocerebellar ataxias (SCA) are a group of hereditary cerebellar ataxias that are autosomal dominant. They often manifest as an adult-onset progressive neurodegenerative disease with predominantly cerebellar features of gait ataxia, nystagmus and dysarthria. SCA6 is a subtype of SCA which has been historically classified as \u2018pure cerebellar\u2019. However, many patients may still present with non-cerebellar features. We present a woman in her 70s who was referred to a movement disorder clinic with rigidity, dystonia, upper limb contractures, dysarthria, ocular disturbance and muscle atrophy, with a strong family history of affected individuals. Whole exome sequencing identified 22 CAG repeats in the <jats:italic>CACNA1A<\/jats:italic> gene, in keeping with SCA6. A review of the literature identified a broader SCA6 phenotype, which can present with non-cerebellar features, and present a diagnostic challenge.<\/jats:p>","DOI":"10.1136\/bcr-2025-266791","type":"journal-article","created":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T10:45:22Z","timestamp":1755859522000},"page":"e266791","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["A diagnostic challenge: spinocerebellar ataxia type 6 presenting with dystonia and parkinsonism"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2014-8654","authenticated-orcid":false,"given":"Tal Jonatan","family":"Koren","sequence":"first","affiliation":[{"name":"Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate E","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kishore R","family":"Kumar","sequence":"additional","affiliation":[{"name":"The University of Sydney Sydney Medical School, Sydney, New South Wales, Australia"},{"name":"Concord Repatriation General Hospital Neurosciences Department, Concord, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Lubomski","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,8,22]]},"reference":[{"key":"2025082203450890000_18.8.e266791.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-9076-4"},{"key":"2025082203450890000_18.8.e266791.2","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/s41572-019-0074-3","article-title":"Spinocerebellar ataxia","volume":"5","author":"Klockgether","year":"2019","journal-title":"Nat Rev Dis Primers"},{"key":"2025082203450890000_18.8.e266791.3","doi-asserted-by":"crossref","first-page":"2152","DOI":"10.1007\/s12311-024-01703-z","article-title":"An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches","volume":"23","author":"Rudaks","year":"2024","journal-title":"Cerebellum"},{"key":"2025082203450890000_18.8.e266791.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.11.015"},{"key":"2025082203450890000_18.8.e266791.5","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/105.1.1"},{"key":"2025082203450890000_18.8.e266791.6","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-51892-7.00029-2"},{"key":"2025082203450890000_18.8.e266791.7","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1007\/s12311-020-01120-y","article-title":"The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6","volume":"19","author":"Rentiya","year":"2020","journal-title":"Cerebellum"},{"key":"2025082203450890000_18.8.e266791.8","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000325057.33666.72"},{"key":"2025082203450890000_18.8.e266791.9","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1007\/s00415-006-0383-9","article-title":"Regional patterns of cerebral glucose metabolism in spinocerebellar ataxia type 2, 3 and 6 : a voxel-based FDG-positron emission tomography analysis","volume":"254","author":"Wang","year":"2007","journal-title":"J Neurol"},{"key":"2025082203450890000_18.8.e266791.10","doi-asserted-by":"publisher","DOI":"10.1080\/147342204100032331"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266791","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T10:45:24Z","timestamp":1755859524000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266791"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2025,8,22]]},"published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1136\/bcr-2025-266791"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266791","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8]]}}}