{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T12:49:29Z","timestamp":1785761369402,"version":"3.56.0"},"reference-count":16,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,7,22]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>A woman in her mid-50s presented with an uncomfortable pulling sensation in the right neck that worsened with movement. This was diagnosed as cervical dystonia and treated symptomatically for several years through trials of botulinum toxin. As the years progressed, her symptoms worsened and evolved with the patient eventually experiencing debilitating ataxia requiring use of a wheelchair for mobility, severe dysphagia requiring the use of a feeding tube for nutrition and dysarthria requiring the need of a family member for translation. Through genetic testing, the patient was diagnosed with spinocerebellar ataxia-CACNA1A (SCA-CACNA1A, previously SCA6). The patient had an unusual presentation of the syndrome with dystonia having been the initial symptom, resulting in the patient failing to receive diagnostic clarification of her symptoms until 10 years after the onset of symptoms. Clinicians should consider SCA-CACNA1A in their differential diagnoses if a patient presents with dystonia of unknown aetiology.<\/jats:p>","DOI":"10.1136\/bcr-2026-272385","type":"journal-article","created":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T12:05:21Z","timestamp":1785758721000},"page":"e272385","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Cervical dystonia as the presenting symptom of novel calcium voltage-gated channel subunit alpha1A mutation"],"prefix":"10.1136","volume":"19","author":[{"given":"Yongjia","family":"Deng","sequence":"first","affiliation":[{"name":"WVU School of Medicine, Morgantown, West Virginia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-4546-7453","authenticated-orcid":false,"given":"David","family":"Fletcher","sequence":"additional","affiliation":[{"name":"WVU School of Medicine, Morgantown, West Virginia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Colantonio","sequence":"additional","affiliation":[{"name":"WVU School of Medicine, Morgantown, West Virginia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alali","family":"Abdulrazak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, WVU School of Medicine, Morgantown, West Virginia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Peron","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, WVU School of Medicine, Morgantown, West Virginia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Frey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, WVU School of Medicine, Morgantown, West Virginia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,8,3]]},"reference":[{"key":"2026080305051123000_19.8.e272385.1","doi-asserted-by":"crossref","DOI":"10.3389\/fnins.2024.1422442","article-title":"Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances","volume":"18","author":"Cui","year":"2024","journal-title":"Front Neurosci"},{"key":"2026080305051123000_19.8.e272385.2","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2021.639994","article-title":"From Genotype to Phenotype: Expanding the Clinical Spectrum of CACNA1A Variants in the Era of Next Generation Sequencing","volume":"12","author":"Indelicato","year":"2021","journal-title":"Front Neurol"},{"key":"2026080305051123000_19.8.e272385.3","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1002\/mds.30220","article-title":"Definition and Classification of Dystonia","volume":"40","author":"Albanese","year":"2025","journal-title":"Mov Disord"},{"key":"2026080305051123000_19.8.e272385.4","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1002\/mdc3.12635","article-title":"Genetic Dystonia-ataxia Syndromes: Clinical Spectrum, Diagnostic Approach, and Treatment Options","volume":"5","author":"Rossi","year":"2018","journal-title":"Mov Disord Clin Pract"},{"key":"2026080305051123000_19.8.e272385.5","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-004-0142-7"},{"key":"2026080305051123000_19.8.e272385.6","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0891-15.2015"},{"key":"2026080305051123000_19.8.e272385.7","unstructured":"Perlman S . Hereditary ataxia overview. In: Adam MP , Feldman J , Mirzaa GM , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, 1998. Available: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1138\/"},{"key":"2026080305051123000_19.8.e272385.8","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580112.x"},{"key":"2026080305051123000_19.8.e272385.9","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.5.1238"},{"key":"2026080305051123000_19.8.e272385.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2017.10.007"},{"key":"2026080305051123000_19.8.e272385.11","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14180"},{"key":"2026080305051123000_19.8.e272385.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.neubiorev.2017.01.033"},{"key":"2026080305051123000_19.8.e272385.13","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1016\/S1474-4422(16)00132-0","article-title":"Advances in management of movement disorders in children","volume":"15","author":"Koy","year":"2016","journal-title":"Lancet Neurol"},{"key":"2026080305051123000_19.8.e272385.14","doi-asserted-by":"crossref","DOI":"10.3390\/genes16030335","article-title":"Effects of Levetiracetam on Episodic Ataxia Type 2 and Spinocerebellar Ataxia Type 6 with Episodic Ataxic Symptoms: A Case Series","volume":"16","author":"Shimazaki","year":"2025","journal-title":"Genes (Basel)"},{"key":"2026080305051123000_19.8.e272385.15","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.ejpn.2024.12.006","article-title":"N-Acetyl-leucine in progressive CACNA1A ataxia: A case series","volume":"54","author":"Martakis","year":"2025","journal-title":"Eur J Paediatr Neurol"},{"key":"2026080305051123000_19.8.e272385.16","doi-asserted-by":"crossref","DOI":"10.3389\/fneur.2024.1458109","article-title":"Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A","volume":"15","author":"Mammadova","year":"2024","journal-title":"Front Neurol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-272385","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T12:05:22Z","timestamp":1785758722000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-272385"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":16,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,8,3]]},"published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1136\/bcr-2026-272385"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-272385","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]}}}