{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T20:09:54Z","timestamp":1762459794184,"version":"3.41.2"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,9,26]],"date-time":"2019-09-26T00:00:00Z","timestamp":1569456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Adrenomyeloneuropathy (AMN) is a rare genetic disease. In this study, a case of AMN was uncovered in a Chinese family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical manifestations were collected and observed through medical records, physical examination, laboratory tests, and magnetic resonance imaging (MRI). Generation sequencing of the <jats:italic>ABCD1<\/jats:italic> gene was performed, and the pedigree of the family was analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The proband suffered from adrenocortical insufficiency at 8\u00a0years old and presented with a slowly progressive gait disorder at 21\u00a0years old. Physical examination, laboratory tests, and MRI showed that he had adult\u2010onset AMN manifestations, including spasticity and hyperactive tendon reflexes with Hoffman and Babinski signs in the limbs, difficulty in performing the heel\u2010to\u2010shin test, hyperpigmentation, increased levels of adrenocorticotropic hormone and very long\u2010chain fatty acids, decreased levels of corticosteroid and serum gesterol, and salient atrophy of the cervical and thoracic spinal cord. DNA analysis revealed a missense variant, c.290A&gt;C (p.His97Pro) in exon 1 of the <jats:italic>ABCD1<\/jats:italic> gene, in the proband. Sanger sequencing confirmed that the proband's mother was heterozygous for the same variant. The <jats:italic>ABCD1<\/jats:italic> gene mutation transmitted in an X\u2010linked inheritance manner.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A novel missense mutation in the <jats:italic>ABCD1<\/jats:italic> gene was identified in a Chinese family, which caused an unusual manifestation of adult\u2010onset AMN. This discovery is beneficial for the genetic counseling of patients with X\u2010linked adrenoleukodystrophy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.1416","type":"journal-article","created":{"date-parts":[[2019,9,27]],"date-time":"2019-09-27T02:22:03Z","timestamp":1569550923000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel <i>ABCD1<\/i> gene mutation causes adrenomyeloneuropathy in a Chinese family"],"prefix":"10.1002","volume":"9","author":[{"given":"Chao","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Neurology The First Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongchao","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Hospital of Jilin University Changchun 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