{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T17:28:52Z","timestamp":1791307732882,"version":"4.3.1"},"reference-count":8,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2023,6,11]]},"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:p>Leukodystrophies are a group of genetic diseases with diverse clinical features and prominent involvement of the central nervous system white matter. We describe a 27-year-old man who presented with a progressive neurological disease, and striking involvement of the brainstem and symmetrical white matter lesions on MR scanning. Having excluded several other causes of leukodystrophy, we confirmed Alexander disease when a genetic panel showed a probable pathogenic variant in <jats:italic>GFAP<\/jats:italic>: p.Leu359Pro. Clinicians should suspect Alexander disease in people with a progressive neurological motor decline who has pyramidal and bulbar signs and compatible neuroimaging.<\/jats:p>","DOI":"10.1136\/pn-2023-003761","type":"journal-article","created":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T13:21:14Z","timestamp":1689859274000},"page":"414-417","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Adult-onset Alexander disease with brainstem and cervical cord enhancing lesions"],"prefix":"10.1136","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7078-4005","authenticated-orcid":false,"given":"Daniel Alves de","family":"Oliveira","sequence":"first","affiliation":[{"name":"Department of Neurology, Hospital das Cl\u00ednicas UFPE \/ EBSERH, Recife, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5072-8487","authenticated-orcid":false,"given":"Luziany Carvalho","family":"Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Department of Radiology, Hospital das Cl\u00ednicas UFPE \/ EBSERH, Recife, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8261-2275","authenticated-orcid":false,"given":"Anderson Rodrigues Brand\u00e3o de","family":"Paiva","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit, Neurology Department, Universidade de S\u00e3o Paulo Hospital das Cl\u00ednicas, Sao Paulo, Brazil"},{"name":"Rare diseases department, Mendelics Genomic Analysis, Sao Paulo, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0952-6653","authenticated-orcid":false,"given":"Eduardo Sousa de","family":"Melo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital das Cl\u00ednicas UFPE \/ EBSERH, Recife, Brazil"},{"name":"Neurology, Universidade Federal de Pernambuco, Recife, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,7,20]]},"reference":[{"key":"2025090409454743000_23.5.414.1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2013-305888"},{"key":"2025090409454743000_23.5.414.2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2018-319481"},{"key":"2025090409454743000_23.5.414.3","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000047"},{"key":"2025090409454743000_23.5.414.4","doi-asserted-by":"publisher","DOI":"10.1148\/rg.2019180081"},{"key":"2025090409454743000_23.5.414.5","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70129-1"},{"key":"2025090409454743000_23.5.414.6","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.3174\/ajnr.A1060","article-title":"Can MR imaging diagnose adult-onset Alexander disease","volume":"29","author":"Farina","year":"2008","journal-title":"AJNR Am J Neuroradiol"},{"key":"2025090409454743000_23.5.414.7","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2377-10-21","article-title":"Adult-onset Alexander disease with typical \"Tadpole\" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature","volume":"10","author":"Namekawa","year":"2010","journal-title":"BMC Neurol"},{"key":"2025090409454743000_23.5.414.8","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1212\/WNL.96.15_supplement.1617","article-title":"Adult-onset genetic leukodystrophies misdiagnosed as multiple sclerosis in clinical practice (1617)","volume":"96","author":"Carlson","year":"2021","journal-title":"Neurology Apr"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2023-003761","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T16:45:51Z","timestamp":1757004351000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2023-003761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,20]]},"references-count":8,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,10,2]]},"published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1136\/pn-2023-003761"],"URL":"https:\/\/doi.org\/10.1136\/pn-2023-003761","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,20]]}}}