{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T21:11:59Z","timestamp":1762981919891,"version":"3.41.2"},"reference-count":17,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T00:00:00Z","timestamp":1721865600000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>X\u2010linked adrenoleukodystrophy (X\u2010ALD) is the most common peroxisomal disorder attributed to ABCD1 mutations. Case reports with predominant brainstem involvement are rare.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>In this study, we reported a plateau male worker of X\u2010ALD characterized by progressive weakness accompanied by gait instability, mild nystagmus, and constipation. After 2\u2009years of onset, a brain Magnetic Resonance Image (MRI) scan showed no abnormality but genetic analysis revealed a heterozygous mutation (c.1534G&gt;A) in the ABCD1 gene. After 7\u2009years of onset, although the patient was given aggressive dietary and symptomatic treatment in the course of the disease, a brain MRI scan showed predominantly brainstem damage, but serum concentrations of very long\u2010chain fatty acids were normal, and he had been bedridden for almost 2\u2009years with severe bladder dysfunction, forcing him to undergo cystostomy. The patient was discharged with improved urinary retention and renal function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We reported an X\u2010ALD patient with a novel ABCD1 variation characterized by brainstem damage and retrospectively summarized the clinical manifestation, MRI features, and genetic features of X\u2010ALD patients with brainstem damage.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2499","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T10:25:36Z","timestamp":1721903136000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Brainstem dominant form of X\u2010linked adrenoleukodystrophy with a novel <scp>ABCD1<\/scp> missense variant: A case report and literature review"],"prefix":"10.1002","volume":"12","author":[{"given":"Yulai","family":"Kang","sequence":"first","affiliation":[{"name":"Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Army Medical Centre of PLA Army Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Army Medical Centre of PLA Army Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuo","family":"Min","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Army Medical Centre of PLA Army Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Army Medical Centre of PLA Army Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Army Medical Centre of PLA Army Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-4195-355X","authenticated-orcid":false,"given":"Chunhua","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Army Medical Centre of PLA Army Medical University  Chongqing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,7,25]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.999419"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199905)45:5<652::AID-ANA14>3.0.CO;2-M"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-51"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MED.0000000000000782"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(98)00120-8"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1227"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2011.06.005"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.175"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380060203"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2009.12.002"},{"key":"e_1_2_12_12_1","first-page":"738","article-title":"One case of adult X\u2010linked adrenoleukodystrophycharacterized by cerebellar brainstem symptoms","volume":"9","author":"Liang K.","year":"2018","journal-title":"Chinese Journal of Neurology"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12230"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.3349\/ymj.2014.55.3.676"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-00866-x"},{"issue":"7","key":"e_1_2_12_16_1","first-page":"800","article-title":"Adult\u2010onset X\u2010linked adrenoleukodystrophy characterized by brainstem symptoms: A case report","volume":"56","author":"Yu M.","year":"2023","journal-title":"Chinese Journal of Neurology"},{"issue":"1","key":"e_1_2_12_17_1","first-page":"64","article-title":"A case of adult\u2010onset cerebello\u2010brainstem dominant form of X\u2010linked adrenoleukodystrophy (with video) DJ","volume":"3","author":"Zhao G. 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