{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T23:07:43Z","timestamp":1778368063114,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,5,10]],"date-time":"2022-05-10T00:00:00Z","timestamp":1652140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001332","name":"Council for Scientific and Industrial Research, South Africa","doi-asserted-by":"publisher","award":["MLP1601"],"award-info":[{"award-number":["MLP1601"]}],"id":[{"id":"10.13039\/501100001332","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001332","name":"Council for Scientific and Industrial Research, South Africa","doi-asserted-by":"publisher","award":["MLP1802"],"award-info":[{"award-number":["MLP1802"]}],"id":[{"id":"10.13039\/501100001332","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Spinocerebellar ataxia 1 (SCA1) and SCA2 are dominantly inherited ataxias caused due to CAG expansion mutation in <jats:italic>ATXN1<\/jats:italic> (CAG\u226539) and <jats:italic>ATXN2<\/jats:italic> (CAG\u226532) genes located at <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/www.omim.org\/geneMap\/6\/84?start=-3&amp;limit=10&amp;highlight=84\">6p22.3<\/jats:ext-link> and <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/www.omim.org\/geneMap\/12\/766?start=-3&amp;limit=10&amp;highlight=766\">12q24.12<\/jats:ext-link> loci, respectively, with key manifestations of progressive limb and gait ataxia and with or without brain stem and pyramidal tract involvement. Both SCA1 and SCA2 are quite prevalent subtypes among the SCAs. There are very few reports that describe a combinatorial SCA subtype mutation in a single patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>Here, we report a novel co\u2010occurrence of SCA1 and SCA2 mutations in two unrelated patients. Case\u20101 was observed to carry <jats:italic>ATXN1<\/jats:italic>\u2010CAG (30\/40) and <jats:italic>ATXN2<\/jats:italic>\u2010CAG (23\/45), while case\u20102 harbored <jats:italic>ATXN1<\/jats:italic>\u2010CAG (29\/42) and <jats:italic>ATXN2<\/jats:italic>\u2010CAG (23\/41). Overall, the clinical outcome was complex with probable early onset than expected in Case\u20101 and in Case\u20102, we observed a significant delayed onset of the disease than expected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These cases highlight the probabilistic interactive outcome of two unrelated genetic events towards a converging phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13464","type":"journal-article","created":{"date-parts":[[2022,4,22]],"date-time":"2022-04-22T06:45:13Z","timestamp":1650609913000},"page":"688-692","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Novel Co\u2010existence of Spinocerebellar Ataxia 1 and Spinocerebellar Ataxia 2 Mutations in Indian Patients"],"prefix":"10.1002","volume":"9","author":[{"given":"Pooja","family":"Sharma","sequence":"first","affiliation":[{"name":"Genomics and Molecular Medicine, CSIR\u2010Institute of Genomics and Integrative Biology (CSIR\u2010IGIB), Mall Road  Delhi India"},{"name":"Academy for Scientific and Innovative Research  Ghaziabad India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akhilesh K.","family":"Sonakar","sequence":"additional","affiliation":[{"name":"Neurology Department, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinay","family":"Goel","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajay","family":"Garg","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4590-7947","authenticated-orcid":false,"given":"Achal K.","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Neurology Department, Neuroscience Centre All India Institute of Medical Sciences  New Delhi India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"Faruq","sequence":"additional","affiliation":[{"name":"Genomics and Molecular Medicine, CSIR\u2010Institute of Genomics and Integrative Biology (CSIR\u2010IGIB), Mall Road  Delhi India"},{"name":"Academy for Scientific and Innovative Research  Ghaziabad 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