{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T16:19:20Z","timestamp":1787847560927,"version":"build-2784847793"},"reference-count":5,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>\n                    Spinocerebellar ataxia (SCA)-50 is a recently reported rare subtype. We describe the first case of SCA-50 from the Indian subcontinent. A 22-year-old man presented with progressive cerebellar ataxia over 2 years, along with oculomotor abnormalities and imaging findings indicating mild cerebellar atrophy. Genetic testing revealed an\n                    <jats:italic toggle=\"yes\">NPTX1<\/jats:italic>\n                    gene mutation, which correlates with SCA-50. Its unique pathogenesis distinguishes it from other SCA subtypes.\n                  <\/jats:p>","DOI":"10.4103\/aian.aian_281_26","type":"journal-article","created":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T04:00:12Z","timestamp":1780286412000},"page":"635-637","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Spinocerebellar Ataxia 50: The First Reported Case from the Indian Subcontinent with a Review of the Literature"],"prefix":"10.4103","volume":"29","author":[{"given":"Vijyeta","family":"Taparia","sequence":"first","affiliation":[{"name":"Department of Neurology, Chandan Hospital, Haldwani, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanushree","family":"Chawla","sequence":"additional","affiliation":[{"name":"Department of Neurology, Waikato Hospital, New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chanchal","family":"Goyal","sequence":"additional","affiliation":[{"name":"Descriptive Research Department, Indian Council of Medical Research, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinay","family":"Goyal","sequence":"additional","affiliation":[{"name":"Department of Neurology, Institute of Neurosciences, Medanta the Medicity, Gurugram, Haryana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,5,29]]},"reference":[{"key":"R1-20260818","doi-asserted-by":"crossref","first-page":"2514183","DOI":"10.1177\/2514183X18785258","article-title":"Epidemiology of inherited cerebellar ataxias and challenges in clinical research","volume":"2","author":"Pilotto","year":"2018","journal-title":"Clin Transl Neurosci"},{"key":"R2-20260818","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1093\/brain\/awab407","article-title":"NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia","volume":"145","author":"Coutelier","year":"2022","journal-title":"Brain"},{"key":"R3-20260818","doi-asserted-by":"crossref","first-page":"1774","DOI":"10.1002\/mds.29054","article-title":"A de novo missense NPTX1 variant in an individual with infantile-onset cerebellar ataxia","volume":"37","author":"Schoggl","year":"2022","journal-title":"Mov Disord"},{"key":"R4-20260818","doi-asserted-by":"crossref","first-page":"3931","DOI":"10.1007\/s00415-022-11057-3","article-title":"NPTX1-related oculomotor apraxia: An intra-hemispheric disconnection disorder","volume":"269","author":"Helmchen","year":"2022","journal-title":"J Neurol"},{"key":"R5-20260818","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1002\/mds.28985","article-title":"A novel NPTX1 de novo variant in a late-onset ataxia patient","volume":"37","author":"Deppe","year":"2022","journal-title":"Mov Disord"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_281_26","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T15:22:17Z","timestamp":1787844137000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_281_26"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,29]]},"references-count":5,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_281_26","relation":{},"ISSN":["0972-2327","1998-3549"],"issn-type":[{"value":"0972-2327","type":"print"},{"value":"1998-3549","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,29]]},"assertion":[{"value":"2026-03-11","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-02","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}