{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:53:56Z","timestamp":1790376836239,"version":"4.1.0"},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T00:00:00Z","timestamp":1630540800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:p>Vanishing white matter disease (VWMD) due to <jats:italic>eIF2B<\/jats:italic> mutations is a common leukodystrophy characterised by childhood onset, autosomal recessive inheritance, and progressive clinical course with episodic worsening. There are no reports of genetically confirmed adult patients from India. We describe the phenotype of two adults with genetically confirmed VWMD and typical radiological findings. Both had spastic ataxia and cognitive and behavioural disturbances. Other neurological features included myoclonic jerks and parkinsonism. At the last follow-up (duration: 2\u20139 years), one patient was wheelchair-bound. VWMD is rare in adults but should be suspected based on radiological findings and confirmed by <jats:italic>eIF2B<\/jats:italic> mutation.<\/jats:p>","DOI":"10.1017\/cjn.2021.202","type":"journal-article","created":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T04:05:11Z","timestamp":1630555511000},"page":"708-712","source":"Crossref","is-referenced-by-count":7,"title":["Leukodystrophy Due to <i>eIF2B<\/i> Mutations in Adults"],"prefix":"10.1017","volume":"49","author":[{"given":"Sumanth","family":"Shivaram","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhu","family":"Nagappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doniparthi Venkata","family":"Seshagiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitender","family":"Saini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0860-5592","authenticated-orcid":false,"given":"Periyasamy","family":"Govindaraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjib","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parayil Sankaran","family":"Bindu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arun B.","family":"Taly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2021,9,2]]},"reference":[{"key":"S031716712100202X_ref6","doi-asserted-by":"publisher","DOI":"10.1177\/0883073820904294"},{"key":"S031716712100202X_ref3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9325"},{"key":"S031716712100202X_ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25287"},{"key":"S031716712100202X_ref5","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807308705"},{"key":"S031716712100202X_ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-017-3997-4"},{"key":"S031716712100202X_ref10","doi-asserted-by":"publisher","DOI":"10.1042\/BST0340022"},{"key":"S031716712100202X_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(06)70440-9"},{"key":"S031716712100202X_ref7","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp171"},{"key":"S031716712100202X_ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-019-04334-6"},{"key":"S031716712100202X_ref4","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.20104"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S031716712100202X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T07:52:40Z","timestamp":1662537160000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S031716712100202X\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,2]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["S031716712100202X"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2021.202","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,2]]}}}