{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T20:41:08Z","timestamp":1747168868808,"version":"3.40.5"},"reference-count":13,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","prd-journal.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Parkinsonism &amp; Related Disorders"],"published-print":{"date-parts":[[2024,6]]},"DOI":"10.1016\/j.parkreldis.2024.106957","type":"journal-article","created":{"date-parts":[[2024,4,12]],"date-time":"2024-04-12T01:37:06Z","timestamp":1712885826000},"page":"106957","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Spinocerebellar ataxia subtype 40: Report of a case and review of literature"],"prefix":"10.1016","volume":"123","author":[{"given":"Gautam Bhausaheb","family":"Kale","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prajnya","family":"Rangnathan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pradeep","family":"Divate","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3886-8385","authenticated-orcid":false,"given":"J.M.K.","family":"Murthy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.parkreldis.2024.106957_bib1","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1093\/brain\/awl081","article-title":"Molecular pathogenesis of spinocerebellar ataxias","volume":"129","author":"Duenas","year":"2006","journal-title":"Brain"},{"issue":"9","key":"10.1016\/j.parkreldis.2024.106957_bib2","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1136\/jmedgenet-2014-102333","article-title":"A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia","volume":"51","author":"Tsoi","year":"2014","journal-title":"J. Med. Genet."},{"issue":"1","key":"10.1016\/j.parkreldis.2024.106957_bib3","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1002\/mds.27536","article-title":"Familial ataxia tremor and dementia in a polish family with a novel mutation in the CCDC88C gene","volume":"34","author":"Le\u0144ska-Mieciek","year":"2019","journal-title":"Mov. Disord."},{"issue":"6","key":"10.1016\/j.parkreldis.2024.106957_bib4","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/mdc3.13251","article-title":"Spinocerebellar ataxia 40: another etiology underlying essential tremor syndrome","volume":"8","author":"Emamikhah","year":"2021","journal-title":"Mov. Disord. Clin. Pract."},{"issue":"1","key":"10.1016\/j.parkreldis.2024.106957_bib5","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1515\/tnsci-2020-0190","article-title":"Spinocerebellar ataxia type 40: a case report and literature review","volume":"12","author":"Han","year":"2021","journal-title":"Transl. Neurosci."},{"issue":"4","key":"10.1016\/j.parkreldis.2024.106957_bib6","article-title":"Paroxysmal limbs jitter accompanied by different imaging findings in a Chinese family with spinocerebellar ataxia 40: clinical and neuroimaging studies","volume":"42","author":"Guol","year":"2021","journal-title":"Neuroendocrinol. Lett."},{"issue":"8","key":"10.1016\/j.parkreldis.2024.106957_bib7","doi-asserted-by":"crossref","first-page":"5111","DOI":"10.1007\/s10072-022-06095-8","article-title":"The first case report of spinocerebellar ataxia type-40 in India:novel phenotypic and radiological (bilateral olivary degeneration), features and a comprehensive review of this remarkable radiological sign","volume":"43","author":"Ghosh","year":"2022","journal-title":"Neurol. Sci."},{"issue":"4","key":"10.1016\/j.parkreldis.2024.106957_bib8","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1111\/ene.12350","article-title":"Autosomal dominant cerebellar ataxias: a systematic review of clinical features","volume":"21","author":"Rossi","year":"2014","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.parkreldis.2024.106957_bib9","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/B978-0-444-63233-3.00012-9","article-title":"Autosomal-dominant cerebellar ataxias","volume":"147","author":"Mundwiler","year":"2018","journal-title":"Handb. Clin. Neurol."},{"issue":"4","key":"10.1016\/j.parkreldis.2024.106957_bib10","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1007\/s12311-012-0376-4","article-title":"The ever-expanding spinocerebellar ataxias","volume":"11","author":"Matilla-Duenas","year":"2012","journal-title":"Editorial. Cerebellum"},{"key":"10.1016\/j.parkreldis.2024.106957_bib11","series-title":"Poster M277\/MDA Clinical & Scientific Conference","article-title":"Content validity of the friedrich's ataxia rating scale \u2013 Activities of daily living (FARS-ADL) for use in patients with spinocerebellar ataxia (SCA)","author":"Potashman","year":"2023"},{"issue":"3","key":"10.1016\/j.parkreldis.2024.106957_bib12","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1002\/ajmg.a.38592","article-title":"Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus","volume":"176","author":"Ruggeri","year":"2018","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.parkreldis.2024.106957_bib13","doi-asserted-by":"crossref","DOI":"10.1186\/s40478-021-01207-5","article-title":"Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants","volume":"9","author":"Marguet","year":"2021","journal-title":"Acta Neuropathol. commun."}],"container-title":["Parkinsonism &amp; Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802024009696?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1353802024009696?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,2]],"date-time":"2024-06-02T08:27:05Z","timestamp":1717316825000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1353802024009696"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6]]},"references-count":13,"alternative-id":["S1353802024009696"],"URL":"https:\/\/doi.org\/10.1016\/j.parkreldis.2024.106957","relation":{},"ISSN":["1353-8020"],"issn-type":[{"type":"print","value":"1353-8020"}],"subject":[],"published":{"date-parts":[[2024,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Spinocerebellar ataxia subtype 40: Report of a case and review of literature","name":"articletitle","label":"Article Title"},{"value":"Parkinsonism & Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.parkreldis.2024.106957","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"simple-article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"106957"}}