{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,2]],"date-time":"2025-08-02T19:07:42Z","timestamp":1754161662806,"version":"3.41.2"},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,7,11]],"date-time":"2025-07-11T00:00:00Z","timestamp":1752192000000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>This case report highlights an atypical presentation of Canavan disease (CD) in a 13\u2010year\u2010old female with intention tremor and fine motor difficulties. Neuroimaging revealed symmetrical changes in various brain regions initially suggesting a neurometabolic or mitochondrial disorder. However, further investigations, including biochemical analysis and whole genome sequencing, confirmed a diagnosis of CD. Unlike classical presentations, this case exhibited milder symptoms and unusual MRI findings, contributing to the expanding clinical and radiological spectrum of CD. The importance of recognizing such atypical presentations is emphasized for accurate diagnosis and management of CD.<\/jats:p>","DOI":"10.1002\/jmd2.70031","type":"journal-article","created":{"date-parts":[[2025,7,12]],"date-time":"2025-07-12T05:33:46Z","timestamp":1752298426000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and <scp>MRI<\/scp> Brain Features"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-1650-9230","authenticated-orcid":false,"given":"Preeya","family":"Rehsi","sequence":"first","affiliation":[{"name":"Department of Inherited Metabolic Diseases Evelina London Children's Hospital  London UK"},{"name":"Department of Inherited Metabolic Disease Great Ormond Street Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ata","family":"Siddiqui","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Evelina London Children's Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahul","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Children's Neurosciences Unit Evelina London Children's Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Obioma","family":"Ihezue","sequence":"additional","affiliation":[{"name":"Department of Paediatrics East Surrey Hospital  Redhill UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Halligan","sequence":"additional","affiliation":[{"name":"Department of Inherited Metabolic Diseases Evelina London Children's Hospital  London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,11]]},"reference":[{"volume-title":"GeneReviews((R))","year":"1993","author":"Nagy A.","key":"e_1_2_9_2_1"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-865865"},{"issue":"3","key":"e_1_2_9_4_1","first-page":"572","article-title":"The Molecular Basis of Canavan (Aspartoacylase Deficiency) Disease in European Non\u2010Jewish Patients","volume":"57","author":"Shaag A.","year":"1995","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033\u2010011\u20101438\u20102"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2019.11.009"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-03078-3"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70031","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T05:26:18Z","timestamp":1753766778000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.70031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1002\/jmd2.70031"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.70031","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"type":"print","value":"2192-8312"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"2025-03-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-11","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-11","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70031"}}