{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:13:03Z","timestamp":1790374383308,"version":"4.1.0"},"reference-count":15,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>\n                    X-linked adrenoleukodystrophy is a rare peroxisomal disorder caused by mutations in\n                    <jats:italic toggle=\"yes\">ABCD1<\/jats:italic>\n                    , thereby resulting in impaired \u03b2-oxidation of very long-chain fatty acids. Its adult-onset form, adrenomyeloneuropathy, typically presents as progressive spastic paraparesis that mimics hereditary spastic paraplegia. Brain and spinal magnetic resonance imaging findings are often unremarkable, contributing to diagnostic delays and misdiagnosis. Herein, we report the case of a 60-year-old woman who presented with a 10-year history of progressive lower limb stiffness, weakness, and gait disturbance. She was initially diagnosed with hereditary spastic paraplegia and sought a second opinion. Her family history was remarkable for her father, who experienced a chronic gait disturbance of unknown etiology but never received a formal diagnosis. Neurological examination revealed mild weakness and spasticity in the bilateral lower extremities accompanied by bladder dysfunction, whereas magnetic resonance imaging of the brain and spine was normal. Given the relevant family history and presence of urinary symptoms, metabolic testing was performed. Elevated plasma very long-chain fatty acid levels and a pathogenic variant in\n                    <jats:italic toggle=\"yes\">ABCD1<\/jats:italic>\n                    confirmed the diagnosis of X-linked adrenoleukodystrophy presenting as adrenomyeloneuropathy. This case underscores the need to consider X-linked adrenoleukodystrophy in patients with progressive spastic paraparesis, even in the absence of imaging abnormalities.\n                  <\/jats:p>","DOI":"10.1177\/03000605261431607","type":"journal-article","created":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T02:16:07Z","timestamp":1774318567000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report"],"prefix":"10.1177","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7629-7213","authenticated-orcid":false,"given":"Min Cheol","family":"Chang","sequence":"first","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, College of Medicine, Yeungnam University, Daegu, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7522-1655","authenticated-orcid":false,"given":"Seoyon","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Medicine, School of Medicine, Ewha Woman\u2019s University Seoul Hospital, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,3,23]]},"reference":[{"key":"e_1_3_9_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031697"},{"key":"e_1_3_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-323-99209-1.00022-3"},{"key":"e_1_3_9_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12858"},{"key":"e_1_3_9_5_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12944-024-02361-0"},{"key":"e_1_3_9_6_2","first-page":"101237","article-title":"Overview of genetic mutations causing adrenoleukodystrophy: a case-series study","volume":"44","author":"Fathi M","year":"2025","unstructured":"Fathi M, Khalilian S, Sayad A, et\u00a0al. Overview of genetic mutations causing adrenoleukodystrophy: a case-series study. Mol Genet Metab Rep 2025; 44: 101237.","journal-title":"Mol Genet Metab Rep"},{"key":"e_1_3_9_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_9_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"e_1_3_9_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-319481"},{"key":"e_1_3_9_10_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-51"},{"key":"e_1_3_9_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000059546.15529.CB"},{"key":"e_1_3_9_12_2","first-page":"1095","article-title":"MR imaging of the spinal cord in 23 subjects with ALD-AMN complex","volume":"12","author":"Snyder RD","year":"1991","unstructured":"Snyder RD, King JN, Keck GM, et\u00a0al. MR imaging of the spinal cord in 23 subjects with ALD-AMN complex. AJNR Am J Neuroradiol 1991; 12: 1095\u20131098.","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_3_9_13_2","volume-title":"Endotext [Internet]","author":"Vlachou S","year":"2000","unstructured":"Vlachou S, Kanakis G, Kaltsas G, et\u00a0al. Adrenal insufficiency due to X-linked adrenoleukodystrophy. In: Feingold KR, Ahmed SF, Anawalt B (eds) Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc., 2000."},{"key":"e_1_3_9_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopha.2021.112214"},{"key":"e_1_3_9_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2021.10.006"},{"key":"e_1_3_9_16_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-51"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261431607","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/03000605261431607","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/03000605261431607","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:48:55Z","timestamp":1777459735000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/03000605261431607"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1177\/03000605261431607"],"URL":"https:\/\/doi.org\/10.1177\/03000605261431607","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3]]},"article-number":"03000605261431607"}}