{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T07:54:59Z","timestamp":1789631699279,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T00:00:00Z","timestamp":1662422400000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. AVED is an autosomal\u2010recessive disorder, which is characterized by ataxia, areflexia, and proprioceptive and vibratory sensory loss. The disease is characterized clinically by symptoms with often resembling to those of Friedreich ataxia (FRDA). Vitamin E supplementation improves symptoms and prevents the progression of the disease. In this case report, we reviewed the recently updated findings in AVED in regard to the management and present a case of AVED in a 16\u2010year\u2010old boy, who was initially misdiagnosed as FRDA, prior to the genetic test.<\/jats:p>","DOI":"10.1002\/ccr3.6303","type":"journal-article","created":{"date-parts":[[2022,9,7]],"date-time":"2022-09-07T04:59:01Z","timestamp":1662526741000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Ataxia due to vitamin E deficiency: A case report and updated review"],"prefix":"10.1002","volume":"10","author":[{"given":"Sangharsha","family":"Thapa","sequence":"first","affiliation":[{"name":"University of Minnesota Medical School Twin Cities  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8203-3329","authenticated-orcid":false,"given":"Sangam","family":"Shah","sequence":"additional","affiliation":[{"name":"Institute of Medicine Tribhuvan University  Kirtipur Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swati","family":"Chand","sequence":"additional","affiliation":[{"name":"Rochester General Hospital  Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjit Kumar","family":"Sah","sequence":"additional","affiliation":[{"name":"Institute of Medicine Tribhuvan University  Kirtipur Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawan","family":"Gyawali","sequence":"additional","affiliation":[{"name":"Institute of Medicine Tribhuvan University  Kirtipur Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandip","family":"Paudel","sequence":"additional","affiliation":[{"name":"Institute of Medicine Tribhuvan University  Kirtipur Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pitambar","family":"Khanal","sequence":"additional","affiliation":[{"name":"Institute of Medicine Tribhuvan University  Kirtipur Nepal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,9,6]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-47"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/301699"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10026"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt339"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-004-0246-z"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2013.12.001"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-1331.2001.00273.x"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70424-5"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710425"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pathophys.2006.05.003"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001331"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1987.04460020060027"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6303","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.6303","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.6303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T03:38:04Z","timestamp":1692502684000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.6303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9]]},"references-count":12,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/ccr3.6303"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.6303","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9]]},"assertion":[{"value":"2022-05-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e6303"}}