{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:04Z","timestamp":1786976824270,"version":"build-2736575974"},"reference-count":6,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T00:00:00Z","timestamp":1719273600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A heterozygous gain\u2010of\u2010function variant in the acyl\u2010CoA oxidase 1 (\n                    <jats:italic>ACOX1<\/jats:italic>\n                    ) gene, c.710A&gt;G (p.Asn237Ser), is known to cause Mitchell syndrome, a very rare progressive disorder characterized by episodic demyelination, sensory polyneuropathy, and hearing loss. Only eight patients have been described so far. A single patient has been treated with intravenous immunoglobulin administration, indicating clinical improvement. In this study, we describe a 10\u2010year\u2010old girl carrying the identical mutation, who presented with progressive sensorineural deafness, visual abnormalities, skin ichthyosis, and gait ataxia from infantile age with progressive worsening and loss of walking ability by the age of 10\u2009years. Antioxidant therapies and monthly intravenous immunoglobulin infusions showed excellent clinical results: after 1\u2009year of treatment, the child is now able to walk, run, and jump. We emphasize the importance of early genetic diagnosis since an effective treatment is available for this rare condition.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63796","type":"journal-article","created":{"date-parts":[[2024,6,25]],"date-time":"2024-06-25T21:44:07Z","timestamp":1719351847000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp>\n                      <i>ACOX1<\/i>\n                    <\/scp>\n                    gain\u2010of\u2010function variation in a 10\u2010years\u2010old patient responsive to immunomodulating therapy"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0603-0529","authenticated-orcid":false,"given":"Corinna","family":"Filippi","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Brunetti","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Plumari","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[{"name":"Neurogenetics Research Center IRCCS Mondino Foundation  Pavia Italy"},{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Accorsi","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa Maria","family":"Fazzi","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia  Brescia Italy"},{"name":"Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2020.02.021"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20535"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200935"},{"key":"e_1_2_6_5_1","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Ozelius L.","year":"1999"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-023-01577-w"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0043-1776013"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63796","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T04:41:40Z","timestamp":1733114500000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63796"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,25]]},"references-count":6,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/ajmg.a.63796"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63796","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,25]]},"assertion":[{"value":"2024-04-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63796"}}