{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T21:59:27Z","timestamp":1784584767750,"version":"3.55.0"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002456","name":"Chonnam National University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002456","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Alexander disease (AxD) is a rare autosomal dominant astrogliopathy caused by mutations in the gene encoding for glial fibrillary acidic protein. AxD is divided into two clinical subtypes: type I and type II AxD. Type II AxD usually manifests bulbospinal symptoms and occurs in the second decade of life or later, and its radiologic features include tadpole-like appearance of the brainstem, ventricular garlands, and pial signal changes along the brainstem. Recently, eye-spot signs in the anterior medulla oblongata (MO) have been reported in patients with elderly-onset AxD. In this case, an 82-year-old woman presented with mild gait disturbance and urinary incontinence without bulbar symptoms. The patient died 3 years after symptom onset as a result of rapid neurological deterioration after a minor head injury. MRI showed signal abnormalities resembling angel wings in the middle portion of the MO along with hydromyelia of the cervicomedullary junction. Herein, we report the case of this patient with older adult-onset AxD with an atypical clinical course and distinctive MRI findings.<\/jats:p>","DOI":"10.3389\/fneur.2023.1139047","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T05:46:05Z","timestamp":1686807965000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Older adult-onset Alexander disease with atypical clinicoradiological features: a case report"],"prefix":"10.3389","volume":"14","author":[{"given":"You-Ri","family":"Kang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tai-Seung","family":"Nam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae-Myung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyung Wook","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seung-Han","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seong-Min","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myeong-Kyu","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,6,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1212\/WNL.26.7.607","article-title":"Alexander's disease: a report and reappraisal","volume":"26","author":"Russo","year":"1976","journal-title":"Neurology."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.1212\/WNL.0b013e3182309f72","article-title":"GFAP mutations, age at onset, and clinical subtypes in Alexander disease","volume":"77","author":"Prust","year":"2011","journal-title":"Neurology."},{"key":"B3","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1471-2377-10-21","article-title":"Adult-onset Alexander disease with typical \u201ctadpole\u201d 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":"B4","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1212\/01.wnl.0000438230.33223.bc","article-title":"Neuroimaging and clinical features in type II (late-onset) Alexander disease","volume":"82","author":"Graff-Radford","year":"2014","journal-title":"Neurology."},{"key":"B5","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1212\/01.wnl.0000198770.80743.37","article-title":"Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord","volume":"66","author":"van der Knaap","year":"2006","journal-title":"Neurology."},{"key":"B6","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1212\/CPJ.0000000000000124","article-title":"Characteristic abnormal signals in medulla oblongata-\u201ceye spot\u201d sign: Four cases of elderly-onset Alexander disease","volume":"5","author":"Yoshida","year":"2015","journal-title":"Neurol Clin Pract."},{"key":"B7","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1159\/000475661","article-title":"Quantitative evaluation of brain stem atrophy using magnetic resonance imaging in adult patients with alexander disease","volume":"77","author":"Yoshida","year":"2017","journal-title":"Eur Neurol."},{"key":"B8","doi-asserted-by":"publisher","first-page":"3760","DOI":"10.1111\/ene.15017","article-title":"Clinical and radiological characteristics of older-adult-onset Alexander disease","volume":"28","author":"Yoshida","year":"2021","journal-title":"Eur J Neurol."},{"key":"B9","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/j.jocn.2020.03.033","article-title":"Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature","volume":"75","author":"Benzoni","year":"2020","journal-title":"J Clin Neurosci."},{"key":"B10","doi-asserted-by":"publisher","first-page":"e927","DOI":"10.7759\/cureus.927","article-title":"The Human central canal of the spinal cord: a comprehensive review of its anatomy, embryology, molecular development, variants, and pathology","volume":"8","author":"Saker","year":"2016","journal-title":"Cureus."},{"key":"B11","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1007\/BF00698278","article-title":"Rosenthal fibers formation in the central nervous system. Its relation to Alexander's disease","volume":"47","author":"Soffer","year":"1979","journal-title":"Acta Neuropathol."}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2023.1139047\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T05:46:07Z","timestamp":1686807967000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2023.1139047\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,15]]},"references-count":11,"alternative-id":["10.3389\/fneur.2023.1139047"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2023.1139047","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,15]]},"article-number":"1139047"}}