{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:31:08Z","timestamp":1787070668713,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>Spastic ataxic syndrome is a combination of cerebellar ataxia with spasticity and other pyramidal features. Common causes of spastic ataxic syndrome include spinocerebellar ataxia (SCA) 1, SCA2, autosomal recessive ataxia of Charlevoix\u2013Saguenay, Friedreich ataxia, and hereditary spastic paraplegia type-7. We report a 32-year-old female who presented with unsteadiness of gait, incoordination, and tremulousness of both hands for 10 years with microphthalmia, microdontia, dental caries, and syndactyly. Magnetic resonance imaging of the brain showed T2 fluid-attenuated inversion recovery hyper intensities in periventricular and lobar white matter and internal capsule. Thus, we report a genetically confirmed oculodentodigital dysplasia (ODDD), an autosomal dominant disorder, in an Indian patient who presented with spastic ataxic syndrome, a rarity that has not been reported so far.<\/jats:p>","DOI":"10.4103\/aian.aian_166_24","type":"journal-article","created":{"date-parts":[[2025,2,11]],"date-time":"2025-02-11T23:00:06Z","timestamp":1739314806000},"page":"112-115","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient"],"prefix":"10.4103","volume":"28","author":[{"given":"Gosala RK","family":"Sarma","sequence":"first","affiliation":[{"name":"Department of Neurology, St John\u2019s Medical College, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abhinaya","family":"Varidireddy","sequence":"additional","affiliation":[{"name":"Department of Neurology, St John\u2019s Medical College, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GG","family":"Sharath","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, St John\u2019s Medical College, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sunitha P","family":"Kumaran","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, St John\u2019s Medical College, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"key":"R1-20250220","doi-asserted-by":"crossref","first-page":"120","DOI":"10.3389\/fphar.2013.00120","article-title":"Neurological manifestations of oculodentodigital dysplasia: A Cx43 channelopathy of the central nervous system?","volume":"4","author":"De Bock","year":"2013","journal-title":"Front 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Dermatol"},{"key":"R10-20250220","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1097\/MCD.0000000000000094","article-title":"Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families","volume":"24","author":"Dwarakanathan","year":"2015","journal-title":"Clin Dysmorphol"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_166_24","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:34:33Z","timestamp":1787067273000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_166_24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_166_24","relation":{},"ISSN":["0972-2327","1998-3549"],"issn-type":[{"value":"0972-2327","type":"print"},{"value":"1998-3549","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-03-06","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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